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1. Metabolic Syndrome Derived from Principal Component Analysis and Incident Cardiovascular Events: The Multi Ethnic Study of Atherosclerosis (MESA) and Health, Aging, and Body Composition (Health ABC)

Author

Subhashish Agarwal, David R. Jacobs, Dhananjay Vaidya, Christopher T. Sibley, Neal W. Jorgensen, Jerome I. Rotter, Yii-Der Ida Chen, Yongmei Liu, Jeanette S. Andrews, Stephen Kritchevsky, Bret Goodpaster, Alka Kanaya, Anne B. Newman, Eleanor M. Simonsick, and David M. Herrington

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background. The NCEP metabolic syndrome (MetS) is a combination of dichotomized interrelated risk factors from predominantly Caucasian populations. We propose a continuous MetS score based on principal component analysis (PCA) of the same risk factors in a multiethnic cohort and compare prediction of incident CVD events with NCEP MetS definition. Additionally, we replicated these analyses in the Health, Aging, and Body composition (Health ABC) study cohort. Methods and Results. We performed PCA of the MetS elements (waist circumference, HDL, TG, fasting blood glucose, SBP, and DBP) in 2610 Caucasian Americans, 801 Chinese Americans, 1875 African Americans, and 1494 Hispanic Americans in the multiethnic study of atherosclerosis (MESA) cohort. We selected the first principal component as a continuous MetS score (MetS-PC). Cox proportional hazards models were used to examine the association between MetS-PC and 5.5 years of CVD events (n=377) adjusting for age, gender, race, smoking and LDL-C, overall and by ethnicity. To facilitate comparison of MetS-PC with the binary NCEP definition, a MetS-PC cut point was chosen to yield the same 37% prevalence of MetS as the NCEP definition (37%) in the MESA cohort. Hazard ratio (HR) for CVD events were estimated using the NCEP and Mets-PC-derived binary definitions. In Cox proportional models, the HR (95% CI) for CVD events for 1-SD (standard deviation) of MetS-PC was 1.71 (1.54–1.90) (P

Published
2012
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2. Genome-wide association of body fat distribution in African ancestry populations suggests new loci.

Author

Ching-Ti Liu, Keri L Monda, Kira C Taylor, Leslie Lange, Ellen W Demerath, Walter Palmas, Mary K Wojczynski, Jaclyn C Ellis, Mara Z Vitolins, Simin Liu, George J Papanicolaou, Marguerite R Irvin, Luting Xue, Paula J Griffin, Michael A Nalls, Adebowale Adeyemo, Jiankang Liu, Guo Li, Edward A Ruiz-Narvaez, Wei-Min Chen, Fang Chen, Brian E Henderson, Robert C Millikan, Christine B Ambrosone, Sara S Strom, Xiuqing Guo, Jeanette S Andrews, Yan V Sun, Thomas H Mosley, Lisa R Yanek, Daniel Shriner, Talin Haritunians, Jerome I Rotter, Elizabeth K Speliotes, Megan Smith, Lynn Rosenberg, Josyf Mychaleckyj, Uma Nayak, Ida Spruill, W Timothy Garvey, Curtis Pettaway, Sarah Nyante, Elisa V Bandera, Angela F Britton, Alan B Zonderman, Laura J Rasmussen-Torvik, Yii-Der Ida Chen, Jingzhong Ding, Kurt Lohman, Stephen B Kritchevsky, Wei Zhao, Patricia A Peyser, Sharon L R Kardia, Edmond Kabagambe, Ulrich Broeckel, Guanjie Chen, Jie Zhou, Sylvia Wassertheil-Smoller, Marian L Neuhouser, Evadnie Rampersaud, Bruce Psaty, Charles Kooperberg, Joann E Manson, Lewis H Kuller, Heather M Ochs-Balcom, Karen C Johnson, Lara Sucheston, Jose M Ordovas, Julie R Palmer, Christopher A Haiman, Barbara McKnight, Barbara V Howard, Diane M Becker, Lawrence F Bielak, Yongmei Liu, Matthew A Allison, Struan F A Grant, Gregory L Burke, Sanjay R Patel, Pamela J Schreiner, Ingrid B Borecki, Michele K Evans, Herman Taylor, Michele M Sale, Virginia Howard, Christopher S Carlson, Charles N Rotimi, Mary Cushman, Tamara B Harris, Alexander P Reiner, L Adrienne Cupples, Kari E North, and Caroline S Fox

Subjects
Genetics, QH426-470
Abstract

Central obesity, measured by waist circumference (WC) or waist-hip ratio (WHR), is a marker of body fat distribution. Although obesity disproportionately affects minority populations, few studies have conducted genome-wide association study (GWAS) of fat distribution among those of predominantly African ancestry (AA). We performed GWAS of WC and WHR, adjusted and unadjusted for BMI, in up to 33,591 and 27,350 AA individuals, respectively. We identified loci associated with fat distribution in AA individuals using meta-analyses of GWA results for WC and WHR (stage 1). Overall, 25 SNPs with single genomic control (GC)-corrected p-values

Published
2013
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3. Clinical evolution of beta cell function in youth with diabetes: the SEARCH for Diabetes in Youth study

Author

Ralph B. D'Agostino, Catherine Pihoker, Jeanette S. Andrews, Dana Dabelea, Richard F. Hamman, G Imperatore, L. M. Dolan, Wilfred Y. Fujimoto, Barbara Linder, Elizabeth J. Mayer-Davis, Santica M. Marcovina, and Carla J. Greenbaum

Subjects
Male, Gerontology, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Type 2 diabetes, Article, Body Mass Index, Insulin resistance, Predictive Value of Tests, Risk Factors, Insulin-Secreting Cells, Diabetes mellitus, Epidemiology, Internal Medicine, medicine, Humans, Age of Onset, Child, Autoantibodies, Glycated Hemoglobin, Type 1 diabetes, C-Peptide, business.industry, Fasting, medicine.disease, United States, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Immunology, Disease Progression, Female, Insulin Resistance, Age of onset, Beta cell, business, Body mass index, Biomarkers
Abstract

Few studies have explored the epidemiology of beta cell loss in youth with diabetes. This report describes the evolution and major determinants of beta cell function, assessed by fasting C-peptide (FCP), in the SEARCH for Diabetes in Youth study.Participants were 1,277 youth with diabetes (948 positive for diabetes autoantibodies [DAs] and 329 negative for DAs), diagnosed when aged20 years, who were followed from a median of 8 months post diagnosis, for approximately 30 months. We modelled the relationship between rate of change in log FCP and determinants of interest using repeated measures general linear models.Among DA-positive youth, there was a progressive decline in beta cell function of 4% per month, independent of demographics (age, sex, race/ethnicity), genetic susceptibility to autoimmunity (HLA risk), HbA(1c) and BMI z score, or presence of insulin resistance. Among DA-negative youth, there was marked heterogeneity in beta cell loss, reflecting an aetiologically mixed group. This group likely includes youths with undetected autoimmunity (whose decline is similar to that of DA-positive youth) and youth with non-autoimmune, insulin-resistant diabetes, with limited decline (~0.7% per month).SEARCH provides unique estimates of beta cell function decline in a large sample of youth with diabetes, indicating that autoimmunity is the major contributor. These data contribute to a better understanding of clinical evolution of beta cell function in youth with diabetes, provide strong support for the aetiological classification of diabetes type and may inform tertiary prevention efforts targeted at high-risk groups.

Published
2012

4. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

Author

John R. B. Perry, James B. Meigs, José Dupuis, Luigi Ferrucci, Johan G. Eriksson, Vilmundur Gudnason, Eric J.G. Sijbrands, Jeanette S. Andrews, Jonna L. Grimsby, Lawrence F. Bielak, Peter Kovacs, Panos Deloukas, Marijana Peričić, Johannes H. Smit, Ruth J. F. Loos, Gonneke Willemsen, Eric Boerwinkle, Ben A. Oostra, Manuel Serrano-Ríos, Alena Stančáková, Meena Kumari, Antti Jula, Michael Marmot, Caroline S. Fox, Simon Heath, Guo Li, Ola Hansson, Gerard Waeber, Anne U. Jackson, Nicholas L. Smith, Markku Laakso, George Dedoussis, Aarno Palotie, Sara M. Willems, John F. Peden, Elisabeth Widen, Caroline Hayward, Alan F. Wright, Claes Ladenvall, May E. Montasser, María Teresa Martínez-Larrad, Peter Vollenweider, Louis Pérusse, Tamara B. Harris, Wen Hong L. Kao, Danijela Budimir, Denis Rybin, David B. Savage, Michael A. Province, Alisa K. Manning, Bruna Gigante, Najaf Amin, Lenore J. Launer, Naveed Sattar, Lori L. Bonnycastle, Göran Hallmans, Jeffrey R. O'Connell, Stéphane Lobbens, Jacques S. Beckmann, Gemma Cadby, J. Wouter Jukema, Maria Dimitriou, Michael Stumvoll, Max Vikström, Rona J. Strawbridge, Hugh Watkins, Lyle J. Palmer, Johanna Kuusisto, Aimo Ruokonen, Hanieh Yaghootkar, Yan V. Sun, Inês Barroso, Amy J. Swift, Nancy L. Pedersen, Lars Lind, Mladen Boban, Nita G. Forouhi, Ken K. Ong, Ivana Kolcic, Anke Tönjes, Timothy M. Frayling, Paul W. Franks, Narisu Narisu, Karin Leander, Serge Hercberg, Diana Zelenika, Sharon L.R. Kardia, Min A. Jhun, Marjo-Riitta Järvelin, Stella Trompet, Jaakko Kaprio, Toshiko Tanaka, David S. Siscovick, Toby Johnson, Cornelia M. van Duijn, Veikko Salomaa, Jose C. Florez, James F. Wilson, Leena Peltonen, Pilar Galan, Robert Clarke, Andrew A. Hicks, Claudia Langenberg, Anders Hamsten, David Couper, Albert Hofman, Dawn M. Waterworth, John Blangero, James S. Pankow, Nabila Bouatia-Naji, Sirkka Keinänen-Kiukaanniemi, Mark I. McCarthy, Valeriya Lyssenko, Leif Groop, Brenda W.J.H. Penninx, Ching-Ti Liu, Anuj Goel, Marina Pehlić, Michael Boehnke, Mika Kivimäki, Maria Sabater-Lleal, Emil Rehnberg, Ingrid B. Borecki, Ozren Polasek, Eco J. C. de Geus, Peter P. Pramstaller, Igor Rudan, Richard M. Watanabe, Pierre Meneton, Iva Miljkovic, Vincent Mooser, G. Mark Lathrop, John Beilby, Laura J. Rasmussen-Torvik, Arturo Corbató-Anchuelo, Yvonne Böttcher, Richard N. Bergman, Daniel R. Barnes, Paul C. D. Johnson, Mustafa Atalay, Aroon D. Hingorani, Olga D. Carlson, Perttu Salo, Jacqueline C.M. Witteman, Udo Seedorf, Timo Saaristo, Jian'an Luan, Nicholas J. Wareham, Gudny Eiriksdottir, Matti Uusitupa, Yongmei Liu, Jaakko Tuomilehto, Yurii S. Aulchenko, Peter Schwarz, Robert A. Scott, Lina Zgaga, Joseph Hung, Reedik Mägi, Maria Grazia Franzosi, Eric J. Brunner, Claude Bouchard, Ian Ford, Francis S. Collins, Ulf de Faire, Benjamin F. Voight, Erik Ingelsson, Mario A. Morken, Stefania Bandinelli, Nicole L. Glazer, Dmitry Shungin, Lars Lannfelt, André G. Uitterlinden, Tatijana Zemunik, Markus Perola, Kenneth Rice, Veronique Vitart, Kerrin S. Small, Jouke-Jan Hottenga, Han Chen, Jerome I. Rotter, Philippe Froguel, Karen L. Mohlke, Marie-Claude Vohl, Dorret I. Boomsma, Harry Campbell, Peter S. Chines, Pau Navarro, Vasiliki Lagou, Albert V. Smith, Kathleen Stirrups, Josephine M. Egan, Alan R. Shuldiner, Katri Räikkönen, Inga Prokopenko, Ping An, Rainer Rauramaa, Beverley Balkau, Thor Aspelund, Eleanor Wheeler, Mariza de Andrade, Richa Saxena, Jari Lahti, Cécile Lecoeur, Timo A. Lakka, Jennie Hui, Michael R. Erdos, Stavroula Kanoni, Kirsten Ohm Kyvik, Bengt Sennblad, Sarah H. Wild, Patricia A. Peyser, Patrik K. E. Magnusson, Claire Bellis, Elodie Eury, Jaana Lindström, Boston University [Boston] (BU), Broad Institute of Harvard and MIT, Partenaires INRAE, Massachusetts General Hospital, Massachusetts General Hospital [Boston], Department of Genetics [Boston], Harvard Medical School [Boston] (HMS), Department of Medicine, Université de Sherbrooke (UdeS), Addenbrooke's Hospital, Harvard Medical School [Boston] (HMS)-Beth Israel Deaconess Medical Center [Boston] (BIDMC), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP), Université Lille Nord de France (COMUE), Department of Epidemiology, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System-Center for Social Epidemiology and Population Health, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford [Oxford], The Wellcome Trust Centre for Human Genetics [Oxford], The Netherlands Cancer Institute, Ontario Institute for Cancer Research, Mount Sinai Hospital [Toronto, Canada] (MSH), VU University Amsterdam, Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet [Stockholm], University of Michigan System, Queen Mary University of London (QMUL), The Wellcome Trust Sanger Institute [Cambridge], Lund University [Lund], Diabetes Centre, Lund University, University of Helsinki, Wake Forest School of Medicine, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, University of Maryland School of Medicine, University of Maryland System, University of Edinburgh, University of Exeter, Department of Twin Research and Genetic Epidemiology, King's College London, London, Northwestern University [Evanston], National Institute of Health and Welfare, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Lund University Diabetes Centre, Umeå University, National Institutes of Health, Centre for Medical Systems Biology, Netherlands Genomics Initiative, Washington University in Saint Louis (WUSTL), Department of Health Sciences Research, Mayo Clinic, Wake Forest University, Icelandic Heart Association, Heart Preventive Clinic and Research Institute, University of Iceland, Institute of Biomedicine, Physiology, University of Eastern Finland, Institut National de la Santé et de la Recherche Médicale (INSERM), UMR S 1018, Université Paris-Sud - Paris 11 (UP11), Azienda Sanitaria Firenze, Department of Medical Genetics, Université de Lausanne (UNIL), Centre Hospitalier Universitaire Vaudois (CHUV), Queen Elizabeth II Medical Centre, Research Institute, University of Southern California (USC), University of Split, The University of Texas Health Science Center at Houston (UTHealth), Leipzig University, Pennington Biomedical Research Center, Department of Epidemiology & Public Health, University College of London [London] (UCL), San Carlos Clinical Hospital, University of North Carolina, Harokopio University, National Institute on Aging, Folkhälsan Research Centre, Vaasa Central Hospital, Unité de Recherche en Epidémiologie Nutritionnelle (UREN), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Psychiatry, EMGO - Lifestyle, overweight and diabetes, Epidemiology, Immunology, Erasmus School of Social and Behavioural Sciences, Clinical Genetics, Ophthalmology, Internal Medicine, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Multiple Tissue Human Expression Resource (MUTHER) Consortium, Ahmadi, K.R., Ainali, C., Barrett, A., Bataille, V., Bell, J.T., Buil, A., Deloukas, P., Dermitzakis, E.T., Dimas, A.S., Durbin, R., Glass, D., Grundberg, E., Hassanali, N., Hedman, Å.K., Ingle, C., Knowles, D., Krestyaninova, M., Lindgren, C.M., Lowe, C.E., McCarthy, M.I., Meduri, E., di Meglio, P., Min, J.L., Montgomery, S.B., Nestle, F.O., Nica, A.C., Nisbet, J., O'Rahilly, S., Parts, L., Potter, S., Sekowska, M., Shin, S.Y., Small, K.S., Soranzo, N., Spector, T.D., Surdulescu, G., Travers, M.E., Tsaprouni, L., Tsoka, S., Wilk, A., Yang, T.P., Zondervan, K.T., Voight, B.F., Scott, L.J., Steinthorsdottir, V., Morris, A.P., Dina, C., Welch, R.P., Zeggini, E., Huth, C., Aulchenko, Y.S., Thorleifsson, G., McCulloch, L.J., Ferreira, T., Grallert, H., Amin, N., Wu, G., Willer, C.J., Raychaudhuri, S., McCarroll, S.A., Langenberg, C., Hofmann, O.M., Dupuis, J., Qi, L., Segrè, A.V., van Hoek, M., Navarro, P., Ardlie, K., Balkau, B., Benediktsson, R., Bennett, A.J., Blagieva, R., Boerwinkle, E., Bonnycastle, L.L., Boström, K.B., Bravenboer, B., Bumpstead, S., Burtt, N.P., Charpentier, G., Chines, P.S., Cornelis, M., Couper, D.J., Crawford, G., Doney, A.S., Elliott, K.S., Elliott, A.L., Erdos, M.R., Fox, C.S., Franklin, C.S., Ganser, M., Gieger, C., Grarup, N., Green, T., Griffin, S., Groves, C.J., Guiducci, C., Hadjadj, S., Herder, C., Isomaa, B., Jackson, A.U., Johnson, P.R., Jørgensen, T., Kao, W.H., Klopp, N., Kong, A., Kraft, P., Kuusisto, J., Lauritzen, T., Li, M., Lieverse, A., Lyssenko, V., Marre, M., Meitinger, T., Midthjell, K., Morken, M.A., Narisu, N., Nilsson, P., Owen, K.R., Payne, F., Perry, J.R., Petersen, A.K., Platou, C., Proença, C., Prokopenko, I., Rathmann, W., Rayner, N.W., Robertson, N.R., Rocheleau, G., Roden, M., Sampson, M.J., Saxena, R., Shields, B.M., Shrader, P., Sigurdsson, G., Sparsø, T., Strassburger, K., Stringham, H.M., Sun, Q., Swift, A.J., Thorand, B., Tichet, J., Tuomi, T., van Dam, R.M., van Haeften, T.W., van Herpt, T., van Vliet-Ostaptchouk, J.V., Walters, G.B., Weedon, M.N., Wijmenga, C., Witteman, J., Bergman, R.N., Cauchi, S., Collins, F.S., Gloyn, A.L., Gyllensten, U., Hansen, T., Hide, W.A., Hitman, G.A., Hofman, A., Hunter, D.J., Hveem, K., Laakso, M., Mohlke, K.L., Morris, A.D., Palmer, C.N., Pramstaller, P.P., Rudan, I., Sijbrands, E., Stein, L.D., Tuomilehto, J., Uitterlinden, A., Walker, M., Wareham, N.J., Watanabe, R.M., Abecasis, G.R., Boehm, B.O., Campbell, H., Daly, M.J., Hattersley, A.T., Hu, F.B., Meigs, J.B., Pankow, J.S., Pedersen, O., Wichmann, H.E., Barroso, I., Florez, J.C., Frayling, T.M., Groop, L., Sladek, R., Thorsteinsdottir, U., Wilson, J.F., Illig, T., Froguel, P., van Duijn, C.M., Stefansson, K., Altshuler, D., Boehnke, M., Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Institut National de la Recherche Agronomique (INRA)

Subjects
Blood Glucose, Netherlands Twin Register (NTR), medicine.medical_treatment, [SDV]Life Sciences [q-bio], LOCI, Genome-wide association study, Type 2 diabetes, SUSCEPTIBILITY, Body Mass Index, GLUCOSE, Blood Glucose/metabolism, Cholesterol, HDL/metabolism, Diabetes Mellitus, Type 2/genetics, Genome-Wide Association Study, Humans, Insulin/metabolism, Insulin Resistance/genetics, Polymorphism, Single Nucleotide, 0302 clinical medicine, Insulin, 2. Zero hunger, Genetics, 0303 health sciences, COMMON VARIANTS, 3. Good health, ENVIRONMENT INTERACTION, OBESITY, CORONARY-ARTERY-DISEASE, medicine.medical_specialty, 030209 endocrinology & metabolism, Accounting, Biology, Article, 03 medical and health sciences, Insulin resistance, SDG 3 - Good Health and Well-being, Internal medicine, Diabetes mellitus, medicine, 030304 developmental biology, Genetic association, Glycemic, loci, SNP, insulin, business.industry, Cholesterol, HDL, medicine.disease, Obesity, POLYMORPHISM, ASSOCIATION ANALYSIS, Endocrinology, Diabetes Mellitus, Type 2, TYPE-2 DIABETES RISK, Insulin Resistance, business
Abstract

Group Authors : DIAGRAM Consortium MUTHER Consortium variants influencing fasting glycemic traits and insulin resistance Seuls les 100 premiers auteurs ont été conservés dans la publication. La liste complète des auteurs et des des affiliations est disponible sur la publication https://www.nature.com/articles/ng.2274.pdf p. 667-669.; International audience; Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and beta-cell dysfunction but have contributed little to the understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance pathways might be uncovered by accounting for differences in body mass index (BMI) and potential interactions between BMI and genetic variants. We applied a joint meta-analysis approach to test associations with fasting insulin and glucose on a genome-wide scale. We present six previously unknown loci associated with fasting insulin at P < 5 x 10(-8) in combined discovery and follow-up analyses of 52 studies comprising up to 96,496 non-diabetic individuals. Risk variants were associated with higher triglyceride and lower high-density lipoprotein (HDL) cholesterol levels, suggesting a role for these loci in insulin resistance pathways. The discovery of these loci will aid further characterization of the role of insulin resistance in T2D pathophysiology.

Published
2012

5. Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk

Author

Aaron Isaacs, Fernando Rivadeneira, Louise V. Wain, Gudny Eiriksdottir, Joseph A. Vita, Cornelia M. van Duijn, Jingzhong Ding, Samer S. Najjar, Timothy D. Howard, Kim Sutton-Tyrrell, Anne B. Newman, Daniel Levy, Luc M. Van Bortel, Matthias Olden, Gonçalo R. Abecasis, David M. Herrington, Lenore J. Launer, Sofie Bekaert, Toshiko Tanaka, Vilmundur Gudnason, Naomi M. Hamburg, Guy De Backer, Afshin Parsa, Jeanette S. Andrews, Albert Hofman, Anna F.C. Schut, Quince Gibson, Tamara B. Harris, A. R. Shuldiner, Abbas Dehghan, Emelia J. Benjamin, Angelo Scuteri, Bruce M. Psaty, Christian Fuchsberger, John R. Cockcroft, Kevin M. O'Shaughnessy, Jeanette Erdmann, Kirill V. Tarasov, Yongmei Liu, Nicholas L. Smith, Andrew D. Johnson, Ian B. Wilkinson, Thor Aspelund, Tim De Meyer, Manuela Uda, Germaine C. Verwoert, Ramachandran S. Vasan, Paul Elliott, Marie Josee E. van Rijn, Mark P.S. Sie, Jacqueline C.M. Witteman, Martin G. Larson, Serena Sanna, Dirk De Bacquer, Patrick Segers, Yasmin, André G. Uitterlinden, Ben A. Oostra, Marc De Buyzere, Gary F. Mitchell, Sigurdur Sigurdsson, Eric J.G. Sijbrands, Elizabeth S. Jewell, Albert V. Smith, Stephen Newhouse, Wendy S. Post, Patrick F. McArdle, Carmel M. McEniery, Mohammad Arfan Ikram, Luigi Ferrucci, Ernst Rietzschel, Thierry C. Gillebert, Edward G. Lakatta, Francesco U.S. Mattace-Raso, Janine F. Felix, Epidemiology, Medical Oncology, Internal Medicine, Surgery, Radiology & Nuclear Medicine, Intensive Care, and Clinical Genetics

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Vascular Stiffness/physiology, Locus (genetics), Genome-wide association study, Biology, Tumor Suppressor Proteins/genetics, Article, Cohort Studies, Young Adult, Vascular Stiffness, SDG 3 - Good Health and Well-being, Gene Frequency, Risk Factors, Internal medicine, Genetics, medicine, 80 and over, Cardiovascular Diseases/genetics, Humans, Allele, Pulse wave velocity, Allele frequency, Genetics (clinical), Alleles, Aged, Proportional Hazards Models, Aged, 80 and over, Repressor Proteins/genetics, Tumor Suppressor Proteins, Hazard ratio, Genetic Variation, Middle Aged, medicine.disease, Repressor Proteins, Minor allele frequency, Phenotype, Cardiovascular Diseases, Genetic Loci, Arterial stiffness, Cardiology, Female, Cardiology and Cardiovascular Medicine, Genome-Wide Association Study
Abstract

Background— Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events. Methods and Results— We conducted a meta-analysis of genome-wide association data in 9 community-based European ancestry cohorts consisting of 20 634 participants. Results were replicated in 2 additional European ancestry cohorts involving 5306 participants. Based on a preliminary analysis of 6 cohorts, we identified a locus on chromosome 14 in the 3′- BCL11B gene desert that is associated with CFPWV (rs7152623, minor allele frequency=0.42, β=−0.075±0.012 SD/allele, P =2.8×10 −10 ; replication β=−0.086±0.020 SD/allele, P =1.4×10 −6 ). Combined results for rs7152623 from 11 cohorts gave β=−0.076±0.010 SD/allele, P =3.1×10 −15 . The association persisted when adjusted for mean arterial pressure (β=−0.060±0.009 SD/allele, P =1.0×10 −11 ). Results were consistent in younger (P =2.3×10 −9 ) and older (9 cohorts, n=12 026, β=−0.061±0.014 SD/allele, P =9.4×10 −6 ) participants. In separate meta-analyses, the locus was associated with increased risk for coronary artery disease (hazard ratio=1.05; confidence interval=1.02–1.08; P =0.0013) and heart failure (hazard ratio=1.10, CI=1.03–1.16, P =0.004). Conclusions— Common genetic variation in a locus in the BCL11B gene desert that is thought to harbor 1 or more gene enhancers is associated with higher CFPWV and increased risk for cardiovascular disease. Elucidation of the role this novel locus plays in aortic stiffness may facilitate development of therapeutic interventions that limit aortic stiffening and related cardiovascular disease events.

Published
2012

6. Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

Author

W. H. Linda Kao, Nicole Probst-Hensch, Florian Ernst, Paul Mitchell, Christa Meisinger, Florian Kronenberg, Sharon L.R. Kardia, Paul M. Ridker, Vilmundur Gudnason, Jeanette S. Andrews, Ming-Huei Chen, Frank B. Hu, Jean-Charles Lambert, Mario Pirastu, Ozren Polasek, Xiaoyi Gao, Sven Bergmann, Catherine Helmer, Wilmar Igl, Jie Jin Wang, Barry I. Freedman, Anke Tönjes, Jacqueline C. M. Witteman, Sheila Ulivi, Conall M. O'Seaghdha, Mika Kähönen, Mariza de Andrade, Daniel I. Chasman, Meredith C. Foster, Rossella Sorice, Mathias Gorski, Eric Boerwinkle, Karlhans Endlich, Maksim Struchalin, Bernhard K. Krämer, Bénédicte Stengel, Caroline Hayward, Giorgio Pistis, Andres Metspalu, Peter Kovacs, Jorma Viikari, Guo Li, Cristian Pattaro, Adrienne Tin, Igor Rudan, Christian Gieger, Mary F. Feitosa, Stephen T. Turner, Gary C. Curhan, Shamika Ketkar, Ian Ford, Peter Vollenweider, Wolfgang Koenig, Madhumathi Rao, Iris M. Heid, Stuart K. Kim, Heather E. Wheeler, Matthias Olden, Hinco J. Gierman, Alex S. F. Doney, Lenore J. Launer, Mladen Boban, Georg Homuth, Paolo Gasparini, Harshal Deshmukh, Henry Völzke, Daniela Ruggiero, Medea Imboden, Elizabeth J. Atkinson, Ben A. Oostra, Stefan Coassin, Ute Nöthlings, Marilyn C. Cornelis, David S. Siscovick, Yongmei Liu, Gian Andri Thun, Gunnar Jacobs, Franco Giulianini, Uwe Völker, Tõnu Esko, Alexander Teumer, Jeffrey R. O'Connell, Brendan M. Buckley, Heyo K. Kroemer, Albert V. Smith, Ulf Gyllensten, Federico Murgia, Man Li, Harry Campbell, Antonietta Robino, Abbas Dehghan, Inga Prokopenko, Shih-Jen Hwang, Sylvia Stracke, Michael Stumvoll, Alan R. Shuldiner, Christian Fuchsberger, Claudia Hundertmark, Luigi Ferrucci, David Ellinghaus, Laura Portas, Caroline S. Fox, Afshin Parsa, Carsten A. Böger, Toshiko Tanaka, Terho Lehtimäki, Ayse Demirkan, James F. Wilson, Elizabeth G. Holliday, Yurii S. Aulchenko, Murielle Bochud, Helen M. Colhoun, Jingzhong Ding, Nicole L. Glazer, Rainer Rettig, Bernhard Paulweber, Margherita Cavalieri, Andre Franke, Ingrid B. Borecki, Olli T. Raitakari, Josef Coresh, Tamara B. Harris, Sarah H. Wild, Reinhold Schmidt, Ching-Ti Liu, Zoltán Kutalik, André G. Uitterlinden, J. Wouter Jukema, Helena Schmidt, Martin Adam, Audrey Y. Chu, Fernando Rivadeneira, Cornelia M. van Duijn, Braxton D. Mitchell, Gudny Eiriksdottir, Tatijana Zemunik, Andrew D. Johnson, Ghazal Zaboli, Reiner Biffar, Thor Aspelund, Cinzia Sala, Peter P. Pramstaller, Veronique Vitart, Michael A. Province, Anna Köttgen, Nicholas D. Hastie, Daniel Taliun, Marina Ciullo, Cosetta Minelli, Kurt Lohman, Matthias Nauck, Thomas Illig, Alan F. Wright, Albert Hofman, Colin N. A. Palmer, Daniela Toniolo, Qiong Yang, Lina Zgaga, Åsa Johansson, Margot Haun, Stella Trompet, Aaron Isaacs, Reedik Mägi, Tiit Nikopensius, Epidemiology, Erasmus School of Social and Behavioural Sciences, Clinical Genetics, Internal Medicine, Chasman, Di, Fuchsberger, C, Pattaro, C, Teumer, A, Böger, Ca, Endlich, K, Olden, M, Chen, Mh, Tin, A, Taliun, D, Li, M, Gao, X, Gorski, M, Yang, Q, Hundertmark, C, Foster, Mc, O'Seaghdha, Cm, Glazer, N, Isaacs, A, Liu, Ct, Smith, Av, O'Connell, Jr, Struchalin, M, Tanaka, T, Li, G, Johnson, Ad, Gierman, Hj, Feitosa, Mf, Hwang, Sj, Atkinson, Ej, Lohman, K, Cornelis, Mc, Johansson, A, Tönjes, A, Dehghan, A, Lambert, Jc, Holliday, Eg, Sorice, R, Kutalik, Z, Lehtimäki, T, Esko, T, Deshmukh, H, Ulivi, S, Chu, Ay, Murgia, F, Trompet, S, Imboden, M, Coassin, S, Pistis, G, Cardiogram, Consortium, Icbp, Consortium, the CARe, Consortium, Wtccc2, Harris, Tb, Launer, Lj, Aspelund, T, Eiriksdottir, G, Mitchell, Bd, Boerwinkle, E, Schmidt, H, Cavalieri, M, Rao, M, Hu, F, Demirkan, A, Oostra, Ba, de Andrade, M, Turner, St, Ding, J, Andrews, J, Freedman, Bi, Giulianini, F, Koenig, W, Illig, T, Meisinger, C, Gieger, C, Zgaga, L, Zemunik, T, Boban, M, Minelli, C, Wheeler, He, Igl, W, Zaboli, G, Wild, Sh, Wright, Af, Campbell, H, Ellinghaus, D, Nöthlings, U, Jacobs, G, Biffar, R, Ernst, F, Homuth, G, Kroemer, Hk, Nauck, M, Stracke, S, Völker, U, Völzke, H, Kovacs, P, Stumvoll, M, Mägi, R, Hofman, A, Uitterlinden, Ag, Rivadeneira, F, Aulchenko, Y, Polasek, O, Hastie, N, Vitart, V, Helmer, C, Wang, Jj, Stengel, B, Ruggiero, D, Bergmann, S, Kähönen, M, Viikari, J, Nikopensius, T, Province, M, Ketkar, S, Colhoun, H, Doney, A, Robino, Antonietta, Krämer, Bk, Portas, L, Ford, I, Buckley, Bm, Adam, M, Thun, Ga, Paulweber, B, Haun, M, Sala, C, Mitchell, P, Ciullo, M, Kim, Sk, Vollenweider, P, Raitakari, O, Metspalu, A, Palmer, C, Gasparini, Paolo, Pirastu, M, Jukema, Jw, Probst Hensch, Nm, Kronenberg, F, Toniolo, D, Gudnason, V, Shuldiner, Ar, Coresh, J, Schmidt, R, Ferrucci, L, Siscovick, D, van Duijn, Cm, Borecki, Ib, Kardia, Sl, Liu, Y, Curhan, Gc, Rudan, I, Gyllensten, U, Wilson, Jf, Franke, A, Pramstaller, Pp, Rettig, R, Prokopenko, I, Witteman, J, Hayward, C, Ridker, Pm, Parsa, A, Bochud, M, Heid, Im, Kao, Wl, Fox, C, and Köttgen, A.

Subjects
Candidate gene, Amino Acid Transport Systems, Basic/genetics, Genome-wide association study, Gene, Genome, Inhibin-beta Subunits/genetics, GWAS, kidney, eGFR, Genetics (clinical), Inhibin-beta Subunits, Glomerular Filtration Rate/genetics, Genetics, 0303 health sciences, Genetic Predisposition to Disease/genetics, Association Studies Articles, 030305 genetics & heredity, Intracellular Signaling Peptides and Proteins, General Medicine, Low Density Lipoprotein Receptor-Related Protein-2/genetics, Polymorphism, Single Nucleotide/genetics, LRP2, 3. Good health, Low Density Lipoprotein Receptor-Related Protein-2, Genome-Wide Association Study/methods, Single Nucleotide/genetics, Glomerular Filtration Rate, Fusion Regulatory Protein 1, Heavy Chain, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genome-Wide Association Studies, Humans, SNP, Genetic Predisposition to Disease, ddc:610, Membrane Proteins/genetics, Polymorphism, Molecular Biology, 030304 developmental biology, Genetic association, Fusion Regulatory Protein 1, Heavy Chain/genetics, Fusion Regulatory Protein 1, Genes, Kidney Function, Membrane Proteins, ta3121, Amino Acid Transport Systems, Basic, Amino Acid Transport Systems, Basic/genetics, Heavy Chain/genetics, Intracellular Signaling Peptides and Proteins/genetics, Candidate Disease Gene, Genome-Wide Association Study
Abstract

In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we developed a strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium. Our strategy focuses on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eGFR associations. It then requires association thresholds consistent with multiple testing, and finally evaluates novel candidates by independent replication. Among the samples of European ancestry, we identified a genome-wide significant SNP in FBXL20 (P = 5.6 × 10(-9)) in meta-analysis of all available data, and additional SNPs at the INHBC, LRP2, PLEKHA1, SLC3A2 and SLC7A6 genes meeting multiple-testing corrected significance for replication and overall P-values of 4.5 × 10(-4)-2.2 × 10(-7). Neither the novel PLEKHA1 nor FBXL20 associations, both further supported by association with eGFR among African Americans and with transcript abundance, would have been implicated by eGFR candidate gene approaches. LRP2, encoding the megalin receptor, was identified through connection with the previously known eGFR gene DAB2 and extends understanding of the megalin system in kidney function. These findings highlight integration of existing genome-wide association data with independent biological knowledge to uncover novel candidate eGFR associations, including candidates lacking known connections to kidney-specific pathways. The strategy may also be applicable to other clinical phenotypes, although more testing will be needed to assess its potential for discovery in general.

Published
2012

7. Outcomes of Revascularized Acute Mesenteric Ischemia in the American College of Surgeons National Surgical Quality Improvement Program Database

Author

William B. Newton, Matthew A. Corriere, Philip P. Goodney, Matthew S. Edwards, Jeanette S. Andrews, Kimberly J. Hansen, and Matthew J. Sagransky

Subjects
Male, Databases, Factual, medicine.medical_treatment, Revascularization, computer.software_genre, Article, Ischemia, medicine, Humans, Prospective Studies, Vascular Diseases, Risk factor, Prospective cohort study, Aged, Database, business.industry, Mortality rate, General Medicine, Bowel resection, Middle Aged, medicine.disease, Treatment Outcome, Mesenteric ischemia, Mesenteric Ischemia, Concomitant, Current Procedural Terminology, Female, business, Vascular Surgical Procedures, computer
Abstract

This report examines outcomes of revascularization for acute arterial mesenteric ischemia (AAMI) using the American College of Surgeons National Surgical Quality Improvement Program database. Patients with International Classification of Diseases, 9th Revision and Current Procedural Terminology codes indicating AAMI with concomitant mesenteric revascularization were identified. Demographic, risk factor, procedural, morbidity, and mortality data were examined. Associations with morbidity and mortality were analyzed by logistic regression. One hundred forty-two cases of AAMI were identified. Seventy-one cases were thrombotic and 71 were embolic according to revascularization codes. Mean age was 66 years, 84 per cent of patients were white, and 54 per cent were female. Unadjusted major morbidity and mortality rates were 69 and 30 per cent, respectively. Patients with thrombotic AAMI were more likely to have a lower body mass index, greater than 10 per cent weight loss in the past 6 months, and a history of smoking. Patients with embolic AAMI were more likely to present emergently with sepsis. Unadjusted morbidity and mortality rates were 78 and 38 per cent for embolic and 61 and 23 per cent for thrombotic AAMI, respectively. Multi-variable predictors of morbidity included bowel resection at the time of revascularization, transfer admission, and involvement of a surgical resident. Multivariable predictors of mortality included impaired functional status, increased age, and postoperative sepsis. Cause of AAMI was not a significant predictor of morbidity or mortality. In a large sample of AAMI cases, AAMI remained a highly lethal and morbid condition. Predictors of morbidity and mortality included indicators of advanced presentation, treatment delay, and patient-related factors specific to AAMI, including debility and advanced age. Efforts directed at prevention and increasing the speed of diagnosis and definitive treatment appear to be necessary to improve outcomes.

Published
2011

8. Meta-analysis of loci associated with age at natural menopause in African-American women

Author

Barbara McKnight, Herman A. Taylor, Leslie Bernstein, Jennifer A. Smith, Jill Dreyfus, Nora L. Nock, Michael F. Press, Sandra L. Deming, Melissa Wellons, Alice M. Arnold, David Couper, Gerardo Heiss, Kristin D. Marciante, Tamara B. Harris, Charles Kooperberg, Ching-Ti Liu, Melissa E. Garcia, Brian E. Henderson, Kathleen F. Kerr, Loic Le Marchand, Joanne M. Murabito, Christopher S. Carlson, Christina T. L. Chen, Nora Franceschini, Jeanette S. Andrews, Elisa V. Bandera, Michele K. Evans, Nancy Fugate Woods, Aleksandar Rajkovic, Wei Zheng, Robert G. Brzyski, Solomon K. Musani, Thomas H. Mosley, Mark O. Goodarzi, Robert C. Millikan, Bruce M. Psaty, Guo Li, Leslie J. Raffel, Mike A. Nalls, Anne R. Cappola, Christine B. Ambrosone, Yongmei Liu, Wei Zhao, L. Adrienne Cupples, Angela Britton, Dhananjay Vaiyda, Alan B. Zonderman, Xiaoning Lu, Ellen W. Demerath, Gary K. Chen, Kurt Lohman, Andrew F. Olshan, Beverly G Windham, Christopher A. Haiman, Esther M. John, and Sharon L.R. Kardia

Subjects
Candidate gene, Aging, Genome-wide association study, Single-nucleotide polymorphism, Reproductive health and childbirth, Biology, Medical and Health Sciences, Chromosomes, White People, Genetic variation, medicine, Genetics, 2.1 Biological and endogenous factors, Chromosomes, Human, Humans, Aetiology, Molecular Biology, Genetics (clinical), African american, Genetics & Heredity, Contraception/Reproduction, Human Genome, Association Studies Articles, Age Factors, Genetic Variation, General Medicine, Biological Sciences, medicine.disease, Estrogen, United States, Menopause, Black or African American, Genetic Loci, Meta-analysis, Female, Candidate Disease Gene, Demography, Human, Genome-Wide Association Study
Abstract

Age at menopause marks the end of a woman's reproductive life and its timing associates with risks for cancer, cardiovascular and bone disorders. GWAS and candidate gene studies conducted in women of European ancestry have identified 27 loci associated with age at menopause. The relevance of these loci to women of African ancestry has not been previously studied. We therefore sought to uncover additional menopause loci and investigate the relevance of European menopause loci by performing a GWAS meta-analysis in 6510 women with African ancestry derived from 11 studies across the USA. We did not identify any additional loci significantly associated with age at menopause in African Americans. We replicated the associations between six loci and age at menopause (P-value < 0.05): AMHR2, RHBLD2, PRIM1, HK3/UMC1, BRSK1/TMEM150B and MCM8. In addition, associations of 14 loci are directionally consistent with previous reports. We provide evidence that genetic variants influencing reproductive traits identified in European populations are also important in women of African ancestry residing in USA.

Published
2014

9. Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function

Author

Afshin Parsa, 1§ Christian Fuchsberger, 2§ Anna Köttgen, 3, 4§ Conall M. O'Seaghdha, 5, 6§ Cristian Pattaro, 7§ Mariza de Andrade, 8§ Daniel I. Chasman, 9, 11 Alexander Teumer, 12 Karlhans Endlich, Matthias Olden, 15 Ming-Huei Chen, 17 Adrienne Tin, 4 Young J. Kim, 125 Daniel Taliun, 7 Man Li, 4 Mary Feitosa, 18 Mathias Gorski, 20 Qiong Yang, 21 Claudia Hundertmark, 22 Meredith C. Foster, 5 Nicole Glazer, 23 Aaron Isaacs, 25 Madhumathi Rao, 26 Albert V. Smith, 28 Jeffrey R. O'Connell, 29 Maksim Struchalin, 30 Toshiko Tanaka, 31 Guo Li, 32 Shih-Jen Hwang, 5 Elizabeth J. Atkinson, 8 Kurt Lohman, 33 Marilyn C. Cornelis, 34 Åsa Johansson, 35 Anke Tönjes, 37 Abbas Dehghan, 38 Vincent Couraki39 Elizabeth G. Holliday, 41 Rossella Sorice, 42 Zoltan Kutalik, 44 Terho Lehtimäki, 45 Tõnu Esko, 47 Harshal Deshmukh, 48 Sheila Ulivi, 49 Audrey Y. Chu, 50 Federico Murgia, 51 Stella Trompet, 52 Medea Imboden, 118 Barbara Kollerits, 54 Giorgio Pistis, 55 Tamara B. Harris, 56 Lenore J. Launer, 56 Thor Aspelund, 28 Gudny Eiriksdottir, 27 Braxton D. Mitchell, 29 Eric Boerwinkle, 57 Helena Schmidt, 58 Edith Hofer, 59 Frank Hu, 34 Ayse Demirkan, 24 Ben A. Oostra, 126 Stephen T. Turner, 60 Jingzhong Ding, 61 Jeanette S. Andrews, 62 Barry I. Freedman, 63 Franco Giulianini, 64 Wolfgang Koenig, 65 Thomas Illig, 116, 117Angela Döring, 20 H.-Erich Wichmann, 68 Lina Zgaga, 69 Tatijana Zemunik, 70 Mladen Boban, 70 Cosetta Minelli, 7 Heather E. Wheeler, 72 Wilmar Igl, 35 Ghazal Zaboli, 35 Sarah H Wild, 69 Alan F Wright, 73 Harry Campbell, 69 David Ellinghaus, 74 Ute Nöthlings, 121, 122 Gunnar Jacobs, 121 Reiner Biffar, 76 Florian Ernst, 12 Georg Homuth, 12 Heyo K. Kroemer, 77 Matthias Nauck, 78 Sylvia Stracke, 79 Uwe Völker, 12 Henry Völzke, 80 Peter Kovacs, 81 Michael Stumvoll, 37 Reedik Mägi, 83 Albert Hofman, 38 Andre G. Uitterlinden, 84 Fernando Rivadeneira, 84 Yurii S Aulchenko, 38 Ozren Polasek, 85 Nick Hastie, 86 Veronique Vitart, 86 Catherine Helmer, 88 Jie Jin Wang, 90 Bénédicte Stengel, 124 Daniela Ruggiero, 42 Sven Bergmann, 44 Mika Kähönen, 92 Jorma Viikari, 93 Tiit Nikopensius, 94 Michael Province, 18 Helen Colhoun, 48 Alex Doney, 95 Antonietta Robino, 49 Bernhard K. Krämer, 96 Laura Portas, 51 Ian Ford, 97 Brendan M. Buckley, 98 Martin Adam, 118 Gian-Andri Thun, 118 Bernhard Paulweber, 99 Margot Haun, 100 Cinzia Sala, 55 Paul Mitchell, 89 Marina Ciullo, 42 Peter Vollenweider, 101 Olli Raitakari, 102 Andres Metspalu, 47 Colin Palmer, 103 Paolo Gasparini, 49 Mario Pirastu, 51 J. Wouter Jukema, 104, 119, 120 Nicole M. Probst-Hensch, 118 Florian Kronenberg, 54 Daniela Toniolo, 128 Vilmundur Gudnason, 28 Alan R. Shuldiner, 105 Josef Coresh, 4, 106 Reinhold Schmidt, 59 Luigi Ferrucci, 31 Cornelia M. van Duijn, 127 Ingrid Borecki, 18 Sharon L.R. Kardia, 107 Yongmei Liu, 33 Gary C. Curhan, 108 Igor Rudan, 69 Ulf Gyllensten, 35 James F. Wilson, 69 Andre Franke, 74 Peter P. Pramstaller, 7 Rainer Rettig, 109 Inga Prokopenko, 123 Jacqueline Witteman, 38 Caroline Hayward, 86 Paul M Ridker, 110 Murielle Bochud, 111 Iris M. Heid, 112, 113 David S. Siscovick, 32§ Caroline S. Fox, 114§ W. Linda Kao, 106§ Carsten A. Böger115§ §Writing/Working group, Parsa, A, Fuchsberger, C, Köttgen, A, O'Seaghdha, Cm, Pattaro, C, de Andrade, M, Chasman, Di, Teumer, A, Endlich, K, Olden, M, Chen, Mh, Tin, A, Kim, Yj, Taliun, D, Li, M, Feitosa, M, Gorski, M, Yang, Q, Hundertmark, C, Foster, Mc, Glazer, N, Isaacs, A, Rao, M, Smith, Av, O'Connell, Jr, Struchalin, M, Tanaka, T, Li, G, Hwang, Sj, Atkinson, Ej, Lohman, K, Cornelis, Mc, Johansson, A, Tönjes, A, Dehghan, A, Couraki, V, Holliday, Eg, Sorice, R, Kutalik, Z, Lehtimäki, T, Esko, T, Deshmukh, H, Ulivi, S, Chu, Ay, Murgia, F, Trompet, S, Imboden, M, Kollerits, B, Pistis, G, Harris, Tb, Launer, Lj, Aspelund, T, Eiriksdottir, G, Mitchell, Bd, Boerwinkle, E, Schmidt, H, Hofer, E, Hu, F, Demirkan, A, Oostra, Ba, Turner, St, Ding, J, Andrews, J, Freedman, Bi, Giulianini, F, Koenig, W, Illig, T, Döring, A, Wichmann, He, Zgaga, L, Zemunik, T, Boban, M, Minelli, C, Wheeler, He, Igl, W, Zaboli, G, Wild, Sh, Wright, Af, Campbell, H, Ellinghaus, D, Nöthlings, U, Jacobs, G, Biffar, R, Ernst, F, Homuth, G, Kroemer, Hk, Nauck, M, Stracke, S, Völker, U, Völzke, H, Kovacs, P, Stumvoll, M, Mägi, R, Hofman, A, Uitterlinden, Ag, Rivadeneira, F, Aulchenko, Y, Polasek, O, Hastie, N, Vitart, V, Helmer, C, Wang, Jj, Stengel, B, Ruggiero, D, Bergmann, S, Kähönen, M, Viikari, J, Nikopensius, T, Province, M, Colhoun, H, Doney, A, Robino, Antonietta, Krämer, Bk, Portas, L, Ford, I, Buckley, Bm, Adam, M, Thun, Ga, Paulweber, B, Haun, M, Sala, C, Mitchell, P, Ciullo, M, Vollenweider, P, Raitakari, O, Metspalu, A, Palmer, C, Gasparini, Paolo, Pirastu, M, Jukema, Jw, Probst Hensch, Nm, Kronenberg, F, Toniolo, D, Gudnason, V, Shuldiner, Ar, Coresh, J, Schmidt, R, Ferrucci, L, van Duijn, Cm, Borecki, I, Kardia, Sl, Liu, Y, Curhan, Gc, Rudan, I, Gyllensten, U, Wilson, Jf, Franke, A, Pramstaller, Pp, Rettig, R, Prokopenko, I, Witteman, J, Hayward, C, Ridker, Pm, Bochud, M, Heid, Im, Siscovick, D, Fox, C, Kao, Wl, Böger, Ca, Epidemiology, Erasmus School of Social and Behavioural Sciences, Clinical Genetics, and Internal Medicine

Subjects
Kidney Disease, Kidney/physiology, Population, 030232 urology & nephrology, Genome-wide association study, Single-nucleotide polymorphism, Biology, Kidney, Renal Insufficiency, Chronic/genetics, Polymorphism, Single Nucleotide, White People, Chronic/genetics, 03 medical and health sciences, symbols.namesake, Databases, 0302 clinical medicine, Genetic, Gene Frequency, Clinical Research, Databases, Genetic, OMIM : Online Mendelian Inheritance in Man, Humans, Renal Insufficiency, Renal Insufficiency, Chronic, Polymorphism, European Continental Ancestry Group/genetics, education, Mendelian kidney disease, 030304 developmental biology, Genetics, 0303 health sciences, education.field_of_study, Genetic Variation, Mendelian Randomization Analysis, General Medicine, Single Nucleotide, ta3121, Kidney disease, renal function, genetic variants, 3. Good health, Minor allele frequency, Phenotype, Nephrology, Mendelian inheritance, symbols, Common disease-common variant, Genome-Wide Association Study
Abstract

Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.

Published
2013

10. Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations

Author

Nora Franceschini, Ervin Fox, Zhaogong Zhang, Todd L. Edwards, Michael A. Nalls, Yun Ju Sung, Bamidele O. Tayo, Yan V. Sun, Omri Gottesman, Adebawole Adeyemo, Andrew D. Johnson, J. Hunter Young, Ken Rice, Qing Duan, Fang Chen, Yun Li, Hua Tang, Myriam Fornage, Keith L. Keene, Jeanette S. Andrews, Jennifer A. Smith, Jessica D. Faul, Zhang Guangfa, Wei Guo, Yu Liu, Sarah S. Murray, Solomon K. Musani, Sathanur Srinivasan, Digna R. Velez Edwards, Heming Wang, Lewis C. Becker, Pascal Bovet, Murielle Bochud, Ulrich Broeckel, Michel Burnier, Cara Carty, Daniel I. Chasman, Georg Ehret, Wei-Min Chen, Guanjie Chen, Wei Chen, Jingzhong Ding, Albert W. Dreisbach, Michele K. Evans, Xiuqing Guo, Melissa E. Garcia, Rich Jensen, Margaux F. Keller, Guillaume Lettre, Vaneet Lotay, Lisa W. Martin, Jason H. Moore, Alanna C. Morrison, Thomas H. Mosley, Adesola Ogunniyi, Walter Palmas, George Papanicolaou, Alan Penman, Joseph F. Polak, Paul M. Ridker, Babatunde Salako, Andrew B. Singleton, Daniel Shriner, Kent D. Taylor, Ramachandran Vasan, Kerri Wiggins, Scott M. Williams, Lisa R. Yanek, Wei Zhao, Alan B. Zonderman, Diane M. Becker, Gerald Berenson, Eric Boerwinkle, Erwin Bottinger, Mary Cushman, Charles Eaton, Fredrik Nyberg, Gerardo Heiss, Joel N. Hirschhron, Virginia J. Howard, Konrad J. Karczewsk, Matthew B. Lanktree, Kiang Liu, Yongmei Liu, Ruth Loos, Karen Margolis, Michael Snyder, Bruce M. Psaty, Nicholas J. Schork, David R. Weir, Charles N. Rotimi, Michele M. Sale, Tamara Harris, Sharon L.R. Kardia, Steven C. Hunt, Donna Arnett, Susan Redline, Richard S. Cooper, Neil J. Risch, D.C. Rao, Jerome I. Rotter, Aravinda Chakravarti, Alex P. Reiner, Daniel Levy, Brendan J. Keating, Xiaofeng Zhu, Min Jin Go, Young Jin Kim, Jong-Young Lee, Jae-Pil Jeon, Sung Soo Kim, Bok-Ghee Han, Yoon Shin Cho, Xueling Sim, Wan Ting Tay, Rick Twee Hee Ong, Mark Seielstad, Jian Jun Liu, Tin Aung, Tien Yin Wong, Yik Ying Teo, E. Shyong Tai, Chien-Hsiun Chen, Li-ching Chang, Yuan-Tsong Chen, Jer-Yuarn Wu, Tanika N. Kelly, Dongfeng Gu, James E. Hixson, Jiang He, Yasuharu Tabara, Yoshihiro Kokubo, Tetsuro Miki, Naoharu Iwai, Norihiro Kato, Fumihiko Takeuchi, Tomohiro Katsuya, Toru Nabika, Takao Sugiyama, Yi Zhang, Wei Huang, Xuegong Zhang, Xueya Zhou, Li Jin, Dingliang Zhu, Bochud, Murielle, and Ehret, Georg Benedikt

Subjects
Blood Pressure/genetics, Black People, Genome-wide association study, Locus (genetics), Blood Pressure, 030204 cardiovascular system & hematology, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Quantitative Trait, Heritable, Report, Databases, Genetic, Genetics, Humans, Genetics(clinical), Genetic Predisposition to Disease, Gene, Genetics (clinical), 030304 developmental biology, Genetic association, ddc:616, 0303 health sciences, African Continental Ancestry Group/genetics, Reproducibility of Results, Polymorphism, Single Nucleotide/genetics, 3. Good health, Genetic Loci, Meta-analysis, Multiple comparisons problem, Genetic Loci/genetics, Africa, Trait, Genome-Wide Association Study
Abstract

High blood pressure (BP) is more prevalent and contributes to more severe manifestations of cardiovascular disease (CVD) in African Americans than in any other United States ethnic group. Several small African-ancestry (AA) BP genome-wide association studies (GWASs) have been published, but their findings have failed to replicate to date. We report on a large AA BP GWAS meta-analysis that includes 29,378 individuals from 19 discovery cohorts and subsequent replication in additional samples of AA (n = 10,386), European ancestry (EA) (n = 69,395), and East Asian ancestry (n = 19,601). Five loci (EVX1-HOXA, ULK4, RSPO3, PLEKHG1, and SOX6) reached genome-wide significance (p < 1.0 × 10(-8)) for either systolic or diastolic BP in a transethnic meta-analysis after correction for multiple testing. Three of these BP loci (EVX1-HOXA, RSPO3, and PLEKHG1) lack previous associations with BP. We also identified one independent signal in a known BP locus (SOX6) and provide evidence for fine mapping in four additional validated BP loci. We also demonstrate that validated EA BP GWAS loci, considered jointly, show significant effects in AA samples. Consequently, these findings suggest that BP loci might have universal effects across studied populations, demonstrating that multiethnic samples are an essential component in identifying, fine mapping, and understanding their trait variability.

Published
2013

11. Genome-Wide Association of Body Fat Distribution in African Ancestry Populations Suggests New Loci

Author

Jose M. Ordovas, Brian E. Henderson, Lara Sucheston, W. Timothy Garvey, JoAnn E. Manson, Julie R. Palmer, Caroline S. Fox, Alexander P. Reiner, Daniel Shriner, Sara S. Strom, Leslie A. Lange, Jiankang Liu, Yongmei Liu, Xiuqing Guo, Charles Kooperberg, Edmond K. Kabagambe, Paula J. Griffin, Heather M. Ochs-Balcom, Jingzhong Ding, L. Adrienne Cupples, Christine B. Ambrosone, Karen C. Johnson, Sanjay R. Patel, Sharon L.R. Kardia, Robert C. Millikan, Guanjie Chen, Lynn Rosenberg, Elisa V. Bandera, Ingrid B. Borecki, Evadnie Rampersaud, Thomas H. Mosley, Christopher S. Carlson, Yan V. Sun, Uma Nayak, Curtis A. Pettaway, Mara Z. Vitolins, Talin Haritunians, Wei Zhao, Adebowale Adeyemo, Marian L. Neuhouser, Kira C. Taylor, Michele K. Evans, Laura J. Rasmussen-Torvik, Angela Britton, Fang Chen, Lewis H. Kuller, Luting Xue, Stephen B. Kritchevsky, Yii-Der Ida Chen, Wei-Min Chen, Gregory L. Burke, Barbara V. Howard, Sarah J. Nyante, Jeanette S. Andrews, Michèle M. Sale, Tamara B. Harris, Ulrich Broeckel, Matthew A. Allison, Bruce M. Psaty, Barbara McKnight, Ida J. Spruill, Lawrence F. Bielak, Herman A. Taylor, Pamela J. Schreiner, Mary K. Wojczynski, Kurt Lohman, Virginia J. Howard, Simin Liu, Josyf C. Mychaleckyj, Diane M. Becker, Elizabeth K. Speliotes, Sylvia Wassertheil-Smoller, Ching-Ti Liu, Jaclyn C. Ellis, Walter Palmas, Guo Li, Alan B. Zonderman, Mike A. Nalls, Jerome I. Rotter, Kari E. North, Christopher A. Haiman, Edward A. Ruiz-Narváez, Lisa R. Yanek, Charles N. Rotimi, Patricia A. Peyser, Jie Zhou, Mary Cushman, Struan F.A. Grant, Keri L. Monda, Ellen W. Demerath, George J. Papanicolaou, Marguerite R. Irvin, Megan Smith, and McCarthy, Mark I

Subjects
Male, Cancer Research, Genome-wide association study, 0302 clinical medicine, Waist–hip ratio, 2.1 Biological and endogenous factors, Body Fat Distribution, Aetiology, Genetics (clinical), African Continental Ancestry Group, Adiposity, 2. Zero hunger, Genetics, 0303 health sciences, Single Nucleotide, Medicine, Female, Research Article, Waist, lcsh:QH426-470, European Continental Ancestry Group, Black People, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Locus (genetics), Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Gene mapping, Clinical Research, medicine, Genome-Wide Association Studies, Humans, Obesity, Polymorphism, Molecular Biology, Metabolic and endocrine, Ecology, Evolution, Behavior and Systematics, Nutrition, 030304 developmental biology, Waist-Hip Ratio, Human Genome, nutritional and metabolic diseases, medicine.disease, Sexual dimorphism, lcsh:Genetics, Genetic Loci, Metabolic Disorders, Genome-Wide Association Study, Developmental Biology
Abstract

Central obesity, measured by waist circumference (WC) or waist-hip ratio (WHR), is a marker of body fat distribution. Although obesity disproportionately affects minority populations, few studies have conducted genome-wide association study (GWAS) of fat distribution among those of predominantly African ancestry (AA). We performed GWAS of WC and WHR, adjusted and unadjusted for BMI, in up to 33,591 and 27,350 AA individuals, respectively. We identified loci associated with fat distribution in AA individuals using meta-analyses of GWA results for WC and WHR (stage 1). Overall, 25 SNPs with single genomic control (GC)-corrected p-values, Author Summary Central obesity is a marker of body fat distribution and is known to have a genetic underpinning. Few studies have reported genome-wide association study (GWAS) results among individuals of predominantly African ancestry (AA). We performed a collaborative meta-analysis in order to identify genetic loci associated with body fat distribution in AA individuals using waist circumference (WC) and waist to hip ratio (WHR) as measures of fat distribution, with and without adjustment for body mass index (BMI). We uncovered 2 genetic loci potentially associated with fat distribution: LHX2 in association with WC-adjusted-for-BMI and at RREB1 for WHR-adjusted-for-BMI. Six of fourteen previously reported loci for waist in EA populations were significant in AA studied here (TBX15-WARS2, GRB14, ADAMTS9, LY86, RSPO3, ITPR2-SSPN). These findings reinforce the concept that there are loci for body fat distribution that are independent of generalized adiposity.

Published
2013

12. The influence of exposure to maternal diabetes in utero on the rate of decline in β-cell function among youth with diabetes

Author

Beatriz L. Rodriguez, Jeanette S. Andrews, Dana Dabelea, Jennifer R. Law, David J. Pettitt, Sharon Saydah, Elizabeth J. Mayer-Davis, Carla J. Greenbaum, Lawrence M. Dolan, Jean M. Lawrence, Tessa L. Crume, and Ralph B. D'Agostino

Subjects
Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Type 2 diabetes, Article, chemistry.chemical_compound, Endocrinology, Pregnancy, Insulin-Secreting Cells, Internal medicine, Diabetes mellitus, Humans, Medicine, Child, Type 1 diabetes, C-Peptide, business.industry, C-peptide, medicine.disease, Confidence interval, Gestational diabetes, Diabetes, Gestational, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, chemistry, In utero, Pediatrics, Perinatology and Child Health, Female, business
Abstract

We explored the influence of exposure to maternal diabetes in utero on β cell decline measured by fasting C-peptide (FCP) among 1079 youth

Published
2013
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13. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

Author

Andrew A. Hicks, Han Chen, Anders Franco-Cereceda, Vilmundur Gudnason, David M. Evans, May E. Montasser, Ulf de Faire, Jeanette S. Andrews, Rainer Rauramaa, Ching-Ti Liu, Michael Boehnke, Panos Deloukas, Naveed Sattar, Jacques S. Beckmann, Marcus E. Kleber, Hanneke Basart, Bruna Gigante, Göran Hallmans, Francis S. Collins, Toshiko Tanaka, Stella Trompet, Kathleen Stirrups, Jula Antti, Ryan P. Welch, Sirkka Keinänen-Kiukaanniemi, Jaakko Kaprio, T. Saaristo, Jeffrey R. O'Connell, Bernhard O. Boehm, Eleanor Wheeler, Kijoung Song, John Beilby, Michael A. Province, Inga Prokopenko, Ping An, Dawn M. Waterworth, Nita G. Forouhi, Nicholas J. Timpson, George Dedoussis, Fernando Rivadeneira, Winfried Maerz, Anneli Pouta, Anuj Goel, Jackie F. Price, Sarah Edkins, Markus Perola, Inês Barroso, Albertine J. Oldehinkel, Igor Rudan, Peter Vollenweider, Philippe Froguel, Richard M. Watanabe, Kari E. North, Dorret I. Boomsma, Harry Campbell, G. Kees Hovingh, Paul C. D. Johnson, Cécile Lecoeur, Vasiliki Lagou, Denis Rybin, Pierre Meneton, Soumya Raychaudhuri, Jian'an Luan, Neil Robertson, Andrew P. Morris, Veikko Salomaa, Anubha Mahajan, Beate St Pourcain, Robert A. Scott, Evelin Mihailov, Gerard R Fowkes, Nancy L. Pedersen, Susan Campbell, Sonia Shah, Veronique Vitart, Mustafa Atalay, Richard N. Bergman, Ross M. Fraser, Anders Hamsten, Benjamin F. Voight, Wolfgang Rathmann, Christian Gieger, James F. Wilson, Wieland Kiess, Marcel Bruinenberg, Serge Hercberg, Ian Ford, James B. Meigs, Tibor V. Varga, George Davey Smith, Josée Dupuis, Stefania Bandinelli, John F. Peden, Mika Kivimäki, J. Wouter Jukema, Michael Stumvoll, Caroline Hayward, Emil Rehnberg, Ozren Polasek, Letizia Marullo, Andrew D. Morris, Brenda W.J.H. Penninx, Lori L. Bonnycastle, Jouke-Jan Hottenga, Martin Farrall, Albert V. Smith, Rona J. Strawbridge, Ingrid B. Borecki, Kari Stefansson, Kirsten Ohm Kyvik, Harald Grallert, Alan James, Tim D. Spector, Paul W. Franks, Lasse Folkersen, Sara M. Willems, Stephan J. L. Bakker, Iva Miljkovic, Nigel W. Rayner, Tamara B. Harris, Momoko Horikoshi, Linda S. Adair, Christian Herder, Tõnu Esko, Thomas Illig, Alan R. Shuldiner, Ruth J. F. Loos, Serena Sanna, Massimo Mangino, Alex S. F. Doney, Hugh Watkins, Erik Ingelsson, Colin N. A. Palmer, Pau Navarro, Claudia Langenberg, Mark I. McCarthy, Johanna Kuusisto, Anne U. Jackson, Martina Müller-Nurasyid, Perttu Salo, Ying Wu, Alan F. Wright, Lars Lind, Johannes H. Smit, Gonneke Willemsen, Stefan R. Bornstein, Jennie Hui, Peter Schwarz, Anke Toenjes, Albert Hofman, Markku Laakso, Maria Dimitriou, Marjo-Riitta Järvelin, Aaron Isaacs, Hyun Min Kang, James S. Pankow, Annette Peters, André G. Uitterlinden, Loic Yengo, Beverley Balkau, Augustine Kong, Toby Johnson, Cornelia M. van Duijn, Luigi Ferrucci, Samuli Ripatti, Mulas Antonella, Aroon D. Hingorani, Meena Kumari, Nicholas J. Wareham, Sarah H. Wild, Patricia B. Munroe, Nicholas D. Hastie, Stefan Gustafsson, Kerrin S. Small, Cecilia M. Lindgren, Jennifer L. Bolton, Matti Uusitupa, Peter P. Pramstaller, Tove Fall, Patricia A. Peyser, Dmitry Shungin, Yongmei Liu, Patrik K. E. Magnusson, Jaakko Tuomilehto, Francesco Cucca, Reedik Mägi, Karen L. Mohlke, Gudmar Thorleifsson, Hanneke Jansen, Mark J. Caulfield, Tanya M. Teslovich, Timo A. Lakka, Heather M. Stringham, Bruce M. Psaty, Niek Verweij, Heikki Oksa, Wei Zhao, Andres Metspalu, Jaana Lindström, Stavroula Kanoni, Bengt Sennblad, Carlo Sidore, Eco J. C. de Geus, Ben A. Oostra, Lawrence F. Bielak, Peter Kovacs, Laura J. Rasmussen-Torvik, Tatijana Zemunik, Jose C. Florez, Antje Körner, Pim van der Harst, Ramaiah Nagaraja, Peter S. Chines, Nabila Bouatia-Naji, Addenbrooke's Hospital, Wellcome Trust Ctr Human Genet, University of Oxford [Oxford], Michigan State University [East Lansing], Michigan State University System, Wellcome Trust Sanger Inst, Partenaires INRAE, University of Maryland [College Park], University of Maryland System, University of Tartu, Karolinska Institutet [Stockholm], Karolinska University Hospital [Stockholm], The Wellcome Trust Sanger Institute [Cambridge], Northwestern University [Evanston], Université Lille Nord de France (COMUE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP), Lund University [Lund], Umeå University, Consiglio Nazionale delle Ricerche (CNR), Istituto di Virologia Vegetale, Università degli studi di Torino (UNITO), Università degli Studi di Sassari, University of Glasgow, Netherlands Heart Institute, Leiden University, Queen Mary University of London (QMUL), University of Groningen, deCODE genetics [Reykjavik], Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), (IGE3 Inst Genet & Genom Geneva), University College of London [London] (UCL), Icelandic Heart Association, Heart Preventive Clinic and Research Institute, University of Iceland, German Research Center for Environmental Health - Helmholtz Center München (GmbH), Natl Inst Hlth & Welf, University of Helsinki, University of Bristol [Bristol], North Carolina State University, Center for High Performance Simulation and Department of Chemical and Biomolecular Engineering, Wake Forest School of Medicine, Sir Charles Gairdner Hospital, University of Western Australia, PathW Lab Med WA, University of Edinburgh, Centre for Medical Systems Biology, Erasmus University Rotterdam, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], University of Pennyslvania, Brigham and Women's Hospital, Boston University [Boston] (BU), Dept Med Genet, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Centre Hospitalier Universitaire Vaudois (CHUV), National Human Genome Research Institute (NHGRI), GlaxoSmithKline, National Institute on Aging, Unité de Recherche en Epidémiologie Nutritionnelle (UREN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Institut National de la Recherche Agronomique (INRA), National Institutes of Health [N01-AG-1-2100], National Institute on Aging Intramural Research Program, Hjartavernd (the Icelandic Heart Association), Althingi (the Icelandic Parliament), Psychiatry, EMGO - Lifestyle, overweight and diabetes, Other departments, ACS - Amsterdam Cardiovascular Sciences, Vascular Medicine, Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Medical Research Council (MRC), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Life Course Epidemiology (LCE), Groningen Institute for Organ Transplantation (GIOT), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Cardiovascular Centre (CVC), Epidemiology, Medical Microbiology & Infectious Diseases, Clinical Chemistry, Child and Adolescent Psychiatry / Psychology, Dermatology, Internal Medicine, Clinical Genetics, and VU University Amsterdam

Subjects
Netherlands Twin Register (NTR), Blood Glucose, Male, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Genome-wide association study, Type 2 diabetes, Fasting/blood, Mice, 0302 clinical medicine, DIAbetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium, Gene Frequency, Insulin, GENETICS & HEREDITY, Genetics, 0303 health sciences, INSULIN-RESISTANCE, Metabolic Networks and Pathways/genetics, gene, glucose, glycemic, GLUCOSE-METABOLISM, 11 Medical And Health Sciences, Fasting, CARDIOVASCULAR-DISEASE, SKELETAL-MUSCLE, Female, Life Sciences & Biomedicine, Metabolic Networks and Pathways, Adult, SUSCEPTIBILITY LOCI, Quantitative Trait Loci, 030209 endocrinology & metabolism, Blood Glucose/genetics, KAPPA-B, Quantitative trait locus, Biology, Article, 03 medical and health sciences, Insulin resistance, SDG 3 - Good Health and Well-being, Diabetes mellitus, Genome-Wide Association Study/statistics & numerical data, Quantitative Trait Loci/physiology, KLOTHO GENE POLYMORPHISMS, medicine, Animals, Humans, GENOME-WIDE ASSOCIATION, Allele frequency, 030304 developmental biology, Glycemic, Science & Technology, Osmolar Concentration, 06 Biological Sciences, medicine.disease, BODY-MASS INDEX, BINDING-PROTEIN-ALPHA, Insulin/blood, Developmental Biology, Genome-Wide Association Study
Abstract

Seuls les auteurs INRA et les 100 premiers auteurs figurent sur la notice. Group Authors : DIAbet Genetics Replication traits and provide insight into the underlying biological pathways La liste complète des auteurs et de leurs affiliations des auteurs est disponible sur la publication, p. 1004-1005, à l'adresse suivante : https://www.nature.com/articles/ng.2385.pdf; International audience; Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes risk (q < 0.05). Loci influencing fasting insulin concentration showed association with lipid levels and fat distribution, suggesting impact on insulin resistance. Gene-based analyses identified further biologically plausible loci, suggesting that additional loci beyond those reaching genome-wide significance are likely to represent real associations. This conclusion is supported by an excess of directionally consistent and nominally significant signals between discovery and follow-up studies. Functional analysis of these newly discovered loci will further improve our understanding of glycemic control.

Published
2012

15. Abstract 425: Coronary Artery Disease in Patients with Premature Atherosclerotic Peripheral Artery Disease

Author

Pavel J Levy, Jeanette S. Andrews, Hamza Rana, and Kimberley J. Hansen

Subjects
medicine.medical_specialty, business.industry, Arterial disease, Disease, medicine.disease, Surgery, Coronary artery disease, Premature atherosclerosis, Internal medicine, Concomitant, medicine, Cardiology, In patient, Cardiology and Cardiovascular Medicine, business
Abstract

Objective: Premature atherosclerotic peripheral artery disease (PAD) is being diagnosed with increasing frequency. Little is known about concomitant coronary artery disease (CAD) in patients with premature PAD. This study examines prevalence, associated clinical characteristics, and predictors of concomitant CAD in young PAD patients. Methods: We studied patients with severe atherosclerotic PAD Results: Total of 561 patients (46% female, 20% Black) were analyzed. Mean age at diagnosis was 46.64±6.86 years. Risk factors included smoking (97%), hyperlipidemia (67%), hypertension (64%), family history of premature CAD (47%), and diabetes (25%). Aortoiliac disease was present in 77% of patients; 36% were disabled. Overall, 174 (31%) patients had clinical CAD. Patients with premature CAD were less likely to be Blacks (p=0.004), had greater frequency of hypertension, hyperlipidemia, diabetes, family history of premature CAD, polyvascular disease (i.e. cerebral vascular disease [CeVD]) (p Conclusions: Clinical CAD was prevalent in 1/3 of patients with premature PAD, and those with premature CAD were less likely to be Black. Among patients with premature PAD, higher odds of concomitant clinical CAD were associated with presence of hyperlipidemia, diabetes, family history of premature CAD, polyvascular disease.

Published
2012

16. Anesthesia-based evaluation of outcomes of lower-extremity vascular bypass procedures

Author

Philip P. Goodney, Racheed J. Ghanami, Jeanette S. Andrews, Matthew S. Edwards, Kimberley J. Hansen, Matthew A. Corriere, Robert N. Harrington, and Justin B. Hurie

Subjects
Male, medicine.medical_specialty, Time Factors, medicine.medical_treatment, Critical Illness, Comorbidity, Anesthesia, General, Risk Assessment, Article, Postoperative Complications, Anesthesia, Conduction, Ischemia, Risk Factors, Medicine, Humans, Risk factor, Stroke, Aged, Retrospective Studies, Aged, 80 and over, business.industry, Mortality rate, Vascular bypass, Retrospective cohort study, General Medicine, Critical limb ischemia, Length of Stay, Middle Aged, medicine.disease, Surgery, Logistic Models, Treatment Outcome, Amputation, Lower Extremity, Anesthesia, Anesthetic, Multivariate Analysis, Linear Models, Female, Vascular Grafting, medicine.symptom, Cardiology and Cardiovascular Medicine, business, medicine.drug
Abstract

Background This report examines the effects of regional versus general anesthesia for infrainguinal bypass procedures performed in the treatment of critical limb ischemia (CLI). Methods Nonemergent infrainguinal bypass procedures for CLI (defined as rest pain or tissue loss) were identified using the 2005 to 2008 American College of Surgeons National Surgical Quality Improvement Program database using International Classification of Disease, ninth edition, and Current Procedure Terminology codes. Patients were classified according to National Surgical Quality Improvement Program data as receiving either general anesthesia or regional anesthesia. The regional anesthesia group included those specified as having regional, spinal, or epidural anesthesia. Demographic, medical, risk factor, operative, and outcomes data were abstracted for the study sample. Individual outcomes were evaluated according to the following morbidity categories: wound, pulmonary, venous thromboembolic, genitourinary, cardiovascular, and operative. Length of stay, total morbidity, and mortality were also evaluated. Associations between anesthesia types and outcomes were evaluated using linear or logistic regression. Results A total of 5,462 inpatient hospital visits involving infrainguinal bypasses for CLI were identified. Mean patient age was 69 ± 12 years; 69% were Caucasian; and 39% were female. In all, 4,768 procedures were performed using general anesthesia and 694 with regional anesthesia. Patients receiving general anesthesia were younger and significantly more likely to have a history of smoking, previous lower-extremity bypass, previous amputation, previous stroke, and a history of a bleeding diathesis including the use of warfarin. Patients receiving regional anesthesia had a higher prevalence of chronic obstructive pulmonary disease. Tibial-level bypasses were performed in 51% of procedures, whereas 49% of procedures were popliteal-level bypasses. Cases performed using general anesthesia demonstrated a higher rate of resident involvement, need for blood transfusion, and operative time. There was no difference in the rate of popliteal-level and infrapopliteal-level bypasses between groups. Infrapopliteal bypass procedures performed using general anesthesia were more likely to involve prosthetic grafts and composite vein. Mortality occurred in 157 patients (3%). The overall morbidity rate was 37%. Mean and median lengths of stay were 7.5 days (± 8.1) and 6.0 days (Q1: 4.0, Q3: 8.0), respectively. Multivariate analyses demonstrated no significant differences by anesthesia type in the incidence of morbidity, mortality, or length of stay. Conclusion These results provide no evidence to support the systematic avoidance of general anesthesia for lower-extremity bypass procedures. These data suggest that anesthetic choice should be governed by local expertise and practice patterns.

Published
2012

17. Metabolic Syndrome Derived from Principal Component Analysis and Incident Cardiovascular Events: The Multi Ethnic Study of Atherosclerosis (MESA) and Health, Aging, and Body Composition (Health ABC)

Author

Yii-Der Ida Chen, David R. Jacobs, Anne B. Newman, Eleanor M. Simonsick, Bret H. Goodpaster, Subhashish Agarwal, Jerome I. Rotter, Neal W. Jorgensen, Stephen B. Kritchevsky, David M. Herrington, Alka M. Kanaya, Christopher T. Sibley, Yongmei Liu, Jeanette S. Andrews, and Dhananjay Vaidya

Subjects
lcsh:Diseases of the circulatory (Cardiovascular) system, Aging, Waist, Article Subject, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Cardiorespiratory Medicine and Haematology, Cardiovascular, Mesa, 03 medical and health sciences, 0302 clinical medicine, Genetics, Medicine, Obesity, cardiovascular diseases, computer.programming_language, Chinese americans, business.industry, Proportional hazards model, Prevention, Hazard ratio, Confounding, Atherosclerosis, medicine.disease, Heart Disease, Good Health and Well Being, lcsh:RC666-701, Cohort, Metabolic syndrome, Cardiology and Cardiovascular Medicine, business, computer, Research Article, Demography
Abstract

Background. The NCEP metabolic syndrome (MetS) is a combination of dichotomized interrelated risk factors from predominantly Caucasian populations. We propose a continuous MetS score based on principal component analysis (PCA) of the same risk factors in a multiethnic cohort and compare prediction of incident CVD events with NCEP MetS definition. Additionally, we replicated these analyses in the Health, Aging, and Body composition (Health ABC) study cohort.Methods and Results. We performed PCA of the MetS elements (waist circumference, HDL, TG, fasting blood glucose, SBP, and DBP) in 2610 Caucasian Americans, 801 Chinese Americans, 1875 African Americans, and 1494 Hispanic Americans in the multiethnic study of atherosclerosis (MESA) cohort. We selected the first principal component as a continuous MetS score (MetS-PC). Cox proportional hazards models were used to examine the association between MetS-PC and 5.5 years of CVD events (n=377) adjusting for age, gender, race, smoking and LDL-C, overall and by ethnicity. To facilitate comparison of MetS-PC with the binary NCEP definition, a MetS-PC cut point was chosen to yield the same 37% prevalence of MetS as the NCEP definition (37%) in the MESA cohort. Hazard ratio (HR) for CVD events were estimated using the NCEP and Mets-PC-derived binary definitions. In Cox proportional models, the HR (95% CI) for CVD events for 1-SD (standard deviation) of MetS-PC was 1.71 (1.54–1.90) (P<0.0001) overall after adjusting for potential confounders, and for each ethnicity, HRs were: Caucasian, 1.64 (1.39–1.94), Chinese, 1.39 (1.06–1.83), African, 1.67 (1.37–2.02), and Hispanic, 2.10 (1.66-2.65). Finally, when binary definitions were compared, HR for CVD events was 2.34 (1.91–2.87) for MetS-PC versus 1.79 (1.46–2.20) for NCEP MetS. In the Health ABC cohort, in a fully adjusted model, MetS-PC per 1-SD (Health ABC) remained associated with CVD events (HR=1.21, 95%CI 1.12–1.32) overall, and for each ethnicity, Caucasian (HR=1.24, 95%CI 1.12–1.39) and African Americans (HR=1.16, 95%CI 1.01–1.32). Finally, when using a binary definition of MetS-PC (cut point 0.505) designed to match the NCEP definition in terms of prevalence in the Health ABC cohort (35%), the fully adjusted HR for CVD events was 1.39, 95%CI 1.17–1.64 compared with 1.46, 95%CI 1.23–1.72 using the NCEP definition.Conclusion. MetS-PC is a continuous measure of metabolic syndrome and was a better predictor of CVD events overall and in individual ethnicities. Additionally, a binary MetS-PC definition was better than the NCEP MetS definition in predicting incident CVD events in the MESA cohort, but this superiority was not evident in the Health ABC cohort.

Published
2012

18. Mortality in Patients with Premature Lower Extremity Atherosclerosis

Author

Billy G. Chacko, Jeanette S. Andrews, Hamza Rana, Pavel J. Levy, and Kimberley J. Hansen

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, medicine.medical_treatment, Comorbidity, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, 030230 surgery, Risk Assessment, Severity of Illness Index, Coronary artery disease, 03 medical and health sciences, Peripheral Arterial Disease, 0302 clinical medicine, Interquartile range, Risk Factors, Internal medicine, medicine, North Carolina, Humans, 030212 general & internal medicine, Prospective Studies, Age of Onset, Prospective cohort study, Proportional Hazards Models, Academic Medical Centers, Chi-Square Distribution, Aspirin, Proportional hazards model, business.industry, Hazard ratio, Cardiovascular Agents, Middle Aged, medicine.disease, Prognosis, 3. Good health, Surgery, Amputation, Lower Extremity, Multivariate Analysis, Female, Age of onset, business, Cardiology and Cardiovascular Medicine, Chi-squared distribution
Abstract

ObjectiveLower extremity peripheral artery disease occurs mostly in the elderly and is associated with high mortality. Limited data are available regarding long-term mortality in patients with premature lower extremity atherosclerosis (PLEA). Our objective was to determine the all-cause mortality and its predictors in younger PLEA patients.MethodsWe studied patients with severe PLEA who were

Published
2011
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19. Outcomes of acute intraoperative surgical conversion during endovascular aortic aneurysm repair

Author

Jeanette S. Andrews, Kimberley J. Hansen, Matthew S. Edwards, Matthew A. Corriere, Philip P. Goodney, Mrinal Shukla, and William B. Newton

Subjects
Lung Diseases, Male, Blood transfusion, Time Factors, medicine.medical_treatment, Postoperative Complications, Risk Factors, Odds Ratio, Medicine, Societies, Medical, Aged, 80 and over, education.field_of_study, Mortality rate, Endovascular Procedures, Venous Thromboembolism, Middle Aged, Quality Improvement, Aortic Aneurysm, Outcome and Process Assessment, Health Care, Treatment Outcome, Databases as Topic, Cardiovascular Diseases, Anesthesia, Current Procedural Terminology, Female, Kidney Diseases, Cardiology and Cardiovascular Medicine, Reoperation, medicine.medical_specialty, Population, Risk Assessment, Article, Blood Vessel Prosthesis Implantation, Renal Dialysis, Sepsis, Humans, Surgical Wound Infection, education, Aged, Quality Indicators, Health Care, Surgical repair, Chi-Square Distribution, business.industry, Genitourinary system, Perioperative, Length of Stay, Respiration, Artificial, Surgery, Logistic Models, North America, Linear Models, business, Complication
Abstract

PurposeOutcomes and predictors of acute surgical conversion during endovascular aortic aneurysm repair (EVAR) were examined using the American College of Surgeons-National Safety and Quality Improvement Project (ACS-NSQIP) Database (2005 to 2008).MethodsAcute intraoperative surgical conversions occurring during elective EVAR were identified using Current Procedural Terminology codes. Nonemergent EVAR and primary open surgical repairs of infrarenal aneurysms were examined for comparison. Perioperative morbidity was categorized as wound, pulmonary, venous thromboembolic, genitourinary, cardiovascular, operative, and septic. Mortality, overall morbidity, and length of stay (LOS) were examined.ResultsWe identified 72 acute conversions, 2414 open repairs, and 6332 EVAR without acute conversion. Demographics and comorbidities were generally similar among operative groups. Mean operative time was 274 minutes for acute conversion vs 226 minutes for primary open repair and 162 minutes for EVAR (conversion vs EVAR and open repair vs EVAR P < .0001 for each; conversion vs open repair P = .0014; analysis on rank operative time). Blood transfusion was required in 69% of acute conversions (mean volume, 6.0 units) vs 73% of open repairs (mean volume, 3.3 units) and 12% of EVARs (mean volume, 2.6 units; P < .0001 for each pair-wise comparison; analysis on rank number of units among those transfused). Major morbidity was 28% for acute conversions, 28% for open repairs, and 12% for EVARs. Mortality was 4.2% for acute conversions, 3.2% for open repairs, and 1.3% for EVARs. Median (quartile 1, quartile 3) LOS was 7 (5, 9) days for acute conversion and open repair, and 2 (1, 3) days for EVAR. Morbidity and mortality were significantly higher for acute conversion and open repair vs EVAR. The OR (95% confidence interval) for morbidity was 2.9 (1.7-4.8) after conversion and 2.8 (2.5-3.2) after open repair (P < .0001 for both) and for mortality was 3.4 (1.0-10.9; P = .0437) for conversion and 2.5 (1.9-3.5; P < .0001) for open repair. Morbidity and mortality were similar between acute conversion and open repair. A similar pattern among repair groups was demonstrated for LOS, with similar LOS for acute conversions and open repair, which were significantly longer than those observed for EVAR. No significant demographic or medical risk factor predictors of acute conversion during EVAR were identified.ConclusionAcute surgical conversion was a rare complication affecting 1.1% of EVAR cases, with no broadly identifiable at-risk population. When conversion did occur, morbidity and mortality rates paralleled those observed for elective open repair.

Published
2011

20. Results of endovascular aortic aneurysm repair with general, regional, and local/monitored anesthesia care in the American College of Surgeons National Surgical Quality Improvement Program database

Author

Philip P. Goodney, Jeanette S. Andrews, Matthew A. Corriere, Matthew S. Edwards, Angela F. Edwards, Kimberley J. Hansen, Christopher J. Godshall, and Racheed J. Ghanami

Subjects
Male, Time Factors, computer.software_genre, Postoperative Complications, Risk Factors, Interquartile range, Anesthesia, Conduction, Odds Ratio, Medicine, Hospital Mortality, Societies, Medical, Fisher's exact test, Aged, 80 and over, Database, Mortality rate, Endovascular Procedures, Middle Aged, Quality Improvement, Treatment Outcome, Databases as Topic, Anesthesia, symbols, Current Procedural Terminology, Female, Cardiology and Cardiovascular Medicine, medicine.drug, medicine.medical_specialty, Anesthesia, General, Risk Assessment, Article, symbols.namesake, Blood Vessel Prosthesis Implantation, Monitoring, Intraoperative, Humans, Aged, Chi-Square Distribution, business.industry, Patient Selection, Odds ratio, Length of Stay, Surgery, North America, Anesthetic, Linear Models, business, computer, Chi-squared distribution, Abdominal surgery, Anesthesia, Local, Aortic Aneurysm, Abdominal
Abstract

BackgroundThis study examined outcomes of endovascular repair of infrarenal abdominal aortic aneurysms (EVAR) using general, spinal, epidural, and local/monitored anesthesia care (MAC) in a multicenter North American hospital database reflecting contemporary anesthesia and surgical practices.MethodsElective EVAR cases performed between 2005 and 2008 were identified from the American College of Surgeons National Surgical Quality Improvement Program database using Current Procedural Terminology codes. Excluded were emergency cases and patients with concomitant procedures requiring general anesthesia. Patient-level comorbidities, characteristics, and intraoperative and postoperative details were examined. Complications were analyzed individually and in aggregate categories, including wound, pulmonary, renal, venous thromboembolic, cardiovascular, operative, and septic. Length of stay (LOS) and 30-day mortality were examined. Characteristics and outcomes were described using mean ± standard deviation or count (%), and comparisons were evaluated for statistical significance using χ2, Fisher exact test, and univariate linear regression. LOS was analyzed with linear regression techniques using a log transformation. Associations between anesthesia type and outcomes were examined using univariable and multivariable regression techniques.ResultsWe identified 6009 elective EVAR procedures for analysis. General anesthesia was used in 4868 cases, spinal anesthesia in 419, epidural anesthesia in 331, and local/MAC in 391. Defined morbidity occurred in 11% of patients. Median LOS was 2 (interquartile range, 1-3) days, and mean LOS was 2.8 ± 4.3 days. The 30-day mortality rate was 1.1%. Significant multivariate associations were observed between anesthesia type, pulmonary morbidity, and log-LOS. General anesthesia was associated with an increase in pulmonary morbidity vs spinal (odds ratio [OR], 4.0; 95% confidence interval [CI], 1.3-12.5; P = .020) and local/MAC anesthesia (OR, 2.6; 95% CI, 1.0-6.4; P = .041). Use of general anesthesia was associated with a 10% increase in LOS for general vs spinal anesthesia (95% CI, 4.8%-15.5%; P = .001) and a 20% increase for general vs local/MAC anesthesia (95% CI, 14.1%-26.2%; P < .001). Trends toward increased pulmonary morbidity and LOS were not observed for general vs epidural anesthesia. No significant association between anesthesia type and mortality was observed.ConclusionsIn contemporary North American anesthetic and surgical practice, general anesthesia for EVAR was associated with increased postoperative LOS and pulmonary morbidity compared with spinal and local/MAC anesthesia. These data suggest that increasing the use of less-invasive anesthetic techniques may limit postoperative complications and decrease the overall costs of EVAR.

Published
2011

21. Depressive Symptoms and Diabetes Self-Management Among Rural Older Adults

Author

Jeanette S. Andrews, Thomas A. Arcury, Beverly M. Snively, Ronny A. Bell, Shannon L. Golden, and Sara A. Quandt

Subjects
Male, Rural Population, Gerontology, Health (social science), Multivariate analysis, Social Psychology, Ethnic group, Black People, Diabetes self management, Type 2 diabetes, Article, White People, Diabetes Complications, Diabetes mellitus, North Carolina, Prevalence, Humans, Medicine, Depressive symptoms, Depression (differential diagnoses), Aged, Aged, 80 and over, Depressive Disorder, business.industry, Public Health, Environmental and Occupational Health, medicine.disease, Self Care, Treatment Outcome, Diabetes Mellitus, Type 2, Socioeconomic Factors, Multivariate Analysis, Indians, North American, Female, Rural area, business, human activities
Abstract

To assess the association of depressive symptoms with diabetes self-management regimens among older adults with type 2 diabetes in a rural, ethnically diverse community.Data from 696 rural older African Americans, American Indians, and whites were used to assess depressive symptoms (modified CES-D) and diabetes self-management (physical activity, blood glucose self-monitoring, self foot checks, following a healthful eating plan, and medication adherence).In bivariate analyses, high CES-D scores were associated with decreased adherence to a healthful eating plan and physical activity and increased foot checks; the latter 2 remained significant in multivariate analyses.Older adults with diabetes and depression are less likely to adhere to self-management, increasing their risk of complications.

Published
2010

22. Glycemic control in youth with diabetes: the SEARCH for diabetes in Youth Study

Author

Jeanette S. Andrews, Elizabeth J. Mayer-Davis, Catherine Pihoker, Ronny A. Bell, Debra A. Standiford, Santica M. Marcovina, Dana Dabelea, Giuseppina Imperatore, Beth E. Waitzfelder, Georgeanna J. Klingensmith, and Diana B. Petitti

Subjects
Blood Glucose, Male, medicine.medical_specialty, endocrine system diseases, Adolescent, Type 2 diabetes, Risk Assessment, Severity of Illness Index, Article, Body Mass Index, Diabetes Complications, chemistry.chemical_compound, Young Adult, Internal medicine, Diabetes mellitus, Ethnicity, Medicine, Humans, Hypoglycemic Agents, Registries, Child, Glycemic, Probability, Glycated Hemoglobin, Type 1 diabetes, Analysis of Variance, business.industry, Incidence, nutritional and metabolic diseases, medicine.disease, United States, Endocrinology, Hemoglobin A, Cross-Sectional Studies, Diabetes Mellitus, Type 1, chemistry, Diabetes Mellitus, Type 2, Pediatrics, Perinatology and Child Health, Multivariate Analysis, Linear Models, Pacific islanders, Female, Glycated hemoglobin, business, Body mass index, Demography, Follow-Up Studies
Abstract

Objective To assess correlates of glycemic control in a diverse population of children and youth with diabetes. Study design This was a cross-sectional analysis of data from a 6-center US study of diabetes in youth, including 3947 individuals with type 1 diabetes (T1D) and 552 with type 2 diabetes (T2D), using hemoglobin A 1c (HbA 1c ) levels to assess glycemic control. Results HbA 1c levels reflecting poor glycemic control (HbA 1c ≥ 9.5%) were found in 17% of youth with T1D and in 27% of those with T2D. African-American, American Indian, Hispanic, and Asian/Pacific Islander youth with T1D were significantly more likely to have higher HbA 1c levels compared with non-Hispanic white youth (with respective rates for poor glycemic control of 36%, 52%, 27%, and 26% vs 12%). Similarly poor control in these 4 racial/ethnic groups was found in youth with T2D. Longer duration of diabetes was significantly asso∗ciated with poorer glycemic control in youth with T1D and T2D. Conclusions The high percentage of US youth with HbA 1c levels above the target value and with poor glycemic control indicates an urgent need for effective treatment strategies to improve metabolic status in youth with diabetes.

Published
2008

23. Contralateral renal disease in patients undergoing renal artery aneurysm repair: the fate of the 'other' kidney and implications for clinical management

Author

Matthew S. Edwards, Christopher J. Godshall, Randolph L. Geary, Justin B. Hurie, Jeanette S. Andrews, Michael R. Buckley, George W. Plonk, Matthew A. Corriere, and Sarah M. Carter

Subjects
Renal artery aneurysm, medicine.medical_specialty, Kidney, medicine.anatomical_structure, business.industry, medicine, Surgery, In patient, Disease, business
Published
2013

24. Restenosis after renal artery angioplasty and stenting: Incidence and risk factors

Author

Jeanette S. Andrews, Randolph L. Geary, Kimberley J. Hansen, Matthew A. Corriere, Jeffrey D. Pearce, and Matthew S. Edwards

Subjects
Male, Time Factors, medicine.medical_treatment, 030204 cardiovascular system & hematology, Renal artery stenosis, Severity of Illness Index, 030218 nuclear medicine & medical imaging, 0302 clinical medicine, Restenosis, Medicine, Registries, Ultrasonography, Doppler, Duplex, Incidence, Angiography, Graft Occlusion, Vascular, Middle Aged, 3. Good health, Survival Rate, Cardiology, Female, Stents, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, Statin, medicine.drug_class, Renal Artery Obstruction, Risk Assessment, Article, 03 medical and health sciences, Age Distribution, Angioplasty, Internal medicine, medicine.artery, Confidence Intervals, Humans, Sex Distribution, Renal artery, Survival rate, Vascular Patency, Aged, Probability, Proportional Hazards Models, Retrospective Studies, business.industry, medicine.disease, Blood pressure, Surgery, business, Follow-Up Studies
Abstract

BackgroundManagement of renal artery stenosis (RAS) with primary renal artery percutaneous angioplasty and stenting (RA-PTAS) is associated with a low risk of periprocedural death and major complications; however, restenosis develops in a subset of patients and repeat intervention may be required. We examined the incidence of restenosis after RA-PTAS and associations with clinical factors.MethodsConsecutive patients undergoing RA-PTAS for hemodynamically significant atherosclerotic RAS associated with hypertension or ischemic nephropathy, or both, between October 2003 and September 2007 were identified from a registry. Restenosis was defined using duplex ultrasound (DUS) imaging as a renal artery postintervention peak systolic velocity (PSV) ≥180 cm/s. The incidence and temporal distribution of restenosis was analyzed using survival analysis based on treated kidneys. Associations between clinical factors and recurrent stenosis were examined using proportional hazards regression.ResultsRA-PTAS was performed on 112 kidneys for atherosclerotic RAS during the study period. Initial postintervention renal artery DUS imaging confirming PSV

Published
2009

25. Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis

Author

Bruce M. Psaty, Christine Schwienbacher, Jens Baumert, Philipp S. Wild, Jeanette S. Andrews, M. Fabiola Del Greco, Atsushi Takahashi, Eric Boerwinkle, Veronique Vitart, Guo Li, Christa Meisinger, Peter Vollenweider, Laura R. Loehr, Linda Broer, James F. Wilson, Ingrid B. Borecki, Mahir Karakas, Aldi T. Kraja, Caroline S. Fox, Oscar H. Franco, Yongmei Liu, Igor Rudan, L. Adrienne Cupples, John H. Eckfeldt, Andreas Ziegler, Nora Franceschini, Vesela Torlak, Alan F. Wright, Yusuke Nakamura, Christopher J. O'Donnell, Kari E. North, Julius S. Ngwa, Mary F. Feitosa, Ahmad Vaez, Qingyu Wu, Albert Hofman, Peter P. Pramstaller, Ozren Polasek, Alexander P. Reiner, Jeffrey B. Kopp, Ido P. Kema, Arne Schillert, Jerome I. Rotter, Murielle Bochud, Andrew A. Hicks, Yukinori Okada, John R. B. Perry, Tamara B. Harris, Qunyuan Zhang, Ying A. Wang, Jingzhong Ding, Nancy S. Jenny, Timothy M. Frayling, Harold Snieder, Gérard Waeber, Mladen Boban, John M. Starr, Behrooz Z. Alizadeh, Lina Zgaga, Michiaki Kubo, Stefania Bandinelli, Aaron R. Folsom, Harm-Jan Westra, Mirna Kirin, Abbas Dehghan, Melanie Waldenberger, Wolfgang Koenig, Karl J. Lackner, Angela Doering, Lorna M. Lopez, Cornelia M. van Duijn, Bram P. Prins, Tatijana Zemunik, Caroline Hayward, Jacqueline C.M. Witteman, Grog Gunjaca, Karen Kapur, Harry Campbell, Ian J. Deary, Sven Bergmann, Frank J. A. van Rooij, Cheryl A. Winkler, Lude Franke, Stefan Blankenberg, Ivana Kolcic, Lenore J. Launer, Tanja Zeller, Luigi Ferrucci, Y. D. Chen, Christian Gieger, Vesna Boraska, Janine F. Felix, J. Peter Durda, Gail Davies, Bruce H. R. Wolffenbuttel, Fang-Chi Hsu, Albert V. Smith, Toshihiro Tanaka, Nicole L. Glazer, André G. Uitterlinden, Andrew P. Morris, Faculteit Medische Wetenschappen/UMCG, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Lifestyle Medicine (LM), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), Epidemiology, Erasmus School of Social and Behavioural Sciences, Internal Medicine, and LifeLines Cohort Study

Subjects
Male, Linkage disequilibrium, Genome-wide association study, DETERMINANTS, Linkage Disequilibrium, Mice, Genetics(clinical), POPULATION, Genetics (clinical), SNPS, RISK, Genetics, education.field_of_study, biology, Chromosome Mapping, Blood Proteins, IDENTIFY, Middle Aged, Female, Adult, Population, Serum albumin, serum protein, albumin, GWAS, Single-nucleotide polymorphism, Locus (genetics), ALBUMIN, White People, Asian People, Gene mapping, SDG 3 - Good Health and Well-being, Report, BIOCHEMICAL TRAITS, FC-RECEPTOR, Animals, Humans, Genetic Predisposition to Disease, SMOKING-BEHAVIOR, ddc:610, GENOME-WIDE ASSOCIATION, education, Alleles, Serum Albumin, Aged, Genetic association, Genetic Loci, Protein Biosynthesis, Proteolysis, biology.protein, Ribosomes, Genome-Wide Association Study
Abstract

Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-analysis of European-ancestry and Japanese genome-wide association studies, we identified six loci at genome-wide significance (p −8 ) for serum albumin ( HPN-SCN1B , GCKR-FNDC4 , SERPINF2-WDR81 , TNFRSF11A-ZCCHC2 , FRMD5-WDR76 , and RPS11-FCGRT , in up to 53,190 European-ancestry and 9,380 Japanese individuals) and three loci for total protein ( TNFRS13B , 6q21.3, and ELL2 , in up to 25,539 European-ancestry and 10,168 Japanese individuals). We observed little evidence of heterogeneity in allelic effects at these loci between groups of European and Japanese ancestry but obtained substantial improvements in the resolution of fine mapping of potential causal variants by leveraging transethnic differences in the distribution of linkage disequilibrium. We demonstrated a functional role for the most strongly associated serum albumin locus, HPN , for which Hpn knockout mice manifest low plasma albumin concentrations. Other loci associated with serum albumin harbor genes related to ribosome function, protein translation, and proteasomal degradation, whereas those associated with serum total protein include genes related to immune function. Our results highlight the advantages of transethnic meta-analysis for the discovery and fine mapping of complex trait loci and have provided initial insights into the underlying genetic architecture of serum protein concentrations and their association with human disease.

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26. The Effect of a Vascular Lecture Series in Medical Student Preclinical Years on Interest in Vascular Surgery

Author

Matthew S. Edwards, John R. Hoyle, Shawn H. Fleming, Jeanette S. Andrews, Phillip R. Moore, Christopher J. Godshall, and Kimberley J. Hansen

Subjects
medicine.medical_specialty, business.industry, urogenital system, fungi, medicine, Surgery, cardiovascular diseases, Vascular surgery, business, Cardiology and Cardiovascular Medicine, urologic and male genital diseases, female genital diseases and pregnancy complications
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27. Trends in vena caval interruption

Author

Matthew A. Corriere, Timothy E. Craven, Phillip S. Moore, Jeanette S. Andrews, Kimberley J. Hansen, Ross P. Davis, Matthew S. Edwards, and Christopher J. Godshall

Subjects
Male, medicine.medical_specialty, Time Factors, Vena Cava Filters, Risk Assessment, Vena caval, Risk Factors, medicine, Hospital discharge, Confidence Intervals, Odds Ratio, Craniocerebral Trauma, Humans, cardiovascular diseases, Practice Patterns, Physicians', Venous Thrombosis, Vena cava filters, Evidence-Based Medicine, business.industry, Head injury, Odds ratio, medicine.disease, Confidence interval, United States, Surgery, Obesity, Morbid, Hospitalization, Venous thrombosis, Logistic Models, Outcome and Process Assessment, Health Care, Treatment Outcome, Health Care Surveys, Female, business, Risk assessment, Cardiology and Cardiovascular Medicine, Pulmonary Embolism
Abstract

ObjectiveThis study examined the national use of vena cava filters (VCFs) from 1998 to 2005.MethodsMethods for complex surveys were used to examine hospital discharge data from the Nationwide Inpatient Sample (NIS) to determine the use of VCFs for the years 1998 to 2005. VCF placement in the absence of deep venous thrombosis (DVT) or pulmonary embolus (PE) was categorized as prophylactic.ResultsDuring the study period, the estimated rate of hospitalizations per year with a diagnosis of DVT (odds ratio [OR], 1.025; 95% confidence interval [CI], 1.019-1.032; P < .01) or PE (OR, 1.076; 95% CI, 1.069-1.083; P < .01) rose significantly. The estimated weighted frequency of VCF placement increased from 52,860 procedures in 1998 to 104,114 procedures in 2005 (0.15% and 0.27% of all discharges, respectively), representing an 80% increase. VCF placement significantly increased during hospitalizations with any diagnosis of DVT or PE, or both, and no DVT or PE (P < .01 for each). Logistic regression models revealed that the rate of prophylactic VCF placement increased at a significantly higher rate than VCF placement associated with DVT or PE (157% vs 42%; P < .01), after adjusting for age, gender, and hospital characteristics. Prophylactic VCF placement in the setting of morbid obesity (P < .01) and head injury (P = .03) rose significantly over time.ConclusionsFrom 1998 to 2005, the estimated rates of prophylactic VCF placement increased at a significantly higher rate than VCF placement in the setting of DVT or PE. Significant increases in the use of prophylactic VCFs were seen in the setting of morbid obesity and head injury.

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28. A vascular disease educational program in the preclinical years of medical school increases student interest in vascular disease

Author

Matthew S. Edwards, Christopher J. Godshall, Phillip S. Moore, John R. Hoyle, Jeanette S. Andrews, Kimberley J. Hansen, and Shawn H. Fleming

Subjects
Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Students, Medical, Attitude of Health Personnel, Endovascular surgery, education, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, North Carolina, medicine, Humans, Program Development, Vascular Medicine, Academic year, Career Choice, business.industry, Vascular disease, 4. Education, Medical school, Vascular surgery, medicine.disease, 3. Good health, Case-Control Studies, Physical therapy, Surgery, Curriculum, medicine.symptom, Comprehension, Cardiology and Cardiovascular Medicine, business, Vascular Surgical Procedures, Educational program, Education, Medical, Undergraduate, Program Evaluation
Abstract

Background New training paradigms in vascular surgery necessitate medical student interest in vascular disease. We examined the effects of incorporation of a vascular disease educational program during the second year of the medical school curriculum on student acquisition of knowledge and interest in the treatment of vascular disease. Methods We developed and administered a new educational program on vascular disease and delivered the program to all second-year medical students. The new program encompassed 9 didactic hours, including 7 traditional lecture hours and 2 hours of problem-based learning. After completing the program, students were surveyed regarding vascular disease-specific knowledge, interest in treating vascular disease, and career choices. Third-year students who were not exposed to the program were surveyed as a control group. We recorded the voluntary student enrollment in the vascular and endovascular surgery rotation during the following academic year. Voluntary enrollment of the students exposed to the vascular disease education program was compared with enrollment for the previous 8 years. Results Before the introduction of the new educational program, 946 total lecture hours were delivered to first- and second-year medical students, comprising 490 hours (52%) given by nonsurgeon physicians, 445 (47%) by nonphysicians, and 11 (1%) by surgeons. Survey response rate was 93% (112 of 121) for second-year students and 95% (39 of 41) for third-year students. After the vascular disease program, second-year students answered 7.1 ± 1.4 of 9 vascular disease questions correctly, whereas unexposed third-year students answered 7.2 ± 1.7 questions correctly ( P = .96). Most second-year medical students described a "somewhat" or "much greater" interest in the medical (63%), procedural (59%), and overall (63%) management of vascular disease after exposure to the program. Most also had a "somewhat" or "much greater" interest in a vascular medicine (64%) or vascular and endovascular surgery (60%) rotation. Enrollment in the vascular surgery third-year clerkship increased significantly to a mean of 3.0 students/month from 1.16 students/month in the prior year ( P = .0032, postintervention year vs 8 prior years). Conclusion A vascular disease educational program administered to second-year medical students increases interest in vascular disease and interest in further training. The increased interest translates to greater student enrollment in the vascular surgery clerkship in the subsequent academic year.

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29. Anatomic Findings and Outcomes Associated With Arteriography and Thrombolysis for Acute Finger Ischemia

Author

Zhongyu Li, Colston Edgerton, Jeanette S. Andrews, Matthew S. Edwards, Andrew Koman, Matthew A. Corriere, and Arsalla Islam

Subjects
education.field_of_study, medicine.medical_specialty, business.industry, Incidence (epidemiology), medicine.medical_treatment, Population, Ischemia, Thrombolysis, medicine.disease, Surgery, medicine.anatomical_structure, Bone marrow aspirate, Amputation, Cohort, medicine, Bone marrow, Cardiology and Cardiovascular Medicine, education, business
Abstract

bone marrow then concentrated and injected intramuscularly into the ischemic limb. Results: BMA patients had a higher incidence of prior smoking (90% vs 43%; P < .05) with a trend towards fewer diabetics (47% vs 71%; P 1⁄4 .07). In the BMA cohort, 84% had rest pain and 79% had tissue loss. 68% had a prior bypass or endovascular intervention. Mean follow-up was 334 days (6170). A second BMA treatment was performed in 21% due to clinical deterioration. ABI improvement was 0.23 (60.25). Rest pain improved in 87.5% and completely resolved in 56%. Wound healing occurred in 67%. 3 patients went on to amputation (Freedom from major amputation or death at 1.5 years 89% vs 59% (Fig; P < .05). Conclusions: Bone marrow aspirate injection therapy is a potential option in CLI patients who are not candidates for bypass or endovascular intervention. Limb salvage is unexpectedly high in this population with few other options.

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30. Genome-wide association and functional follow-up reveals new loci for kidney function.

Author

Cristian Pattaro, Anna Köttgen, Alexander Teumer, Maija Garnaas, Carsten A Böger, Christian Fuchsberger, Matthias Olden, Ming-Huei Chen, Adrienne Tin, Daniel Taliun, Man Li, Xiaoyi Gao, Mathias Gorski, Qiong Yang, Claudia Hundertmark, Meredith C Foster, Conall M O'Seaghdha, Nicole Glazer, Aaron Isaacs, Ching-Ti Liu, Albert V Smith, Jeffrey R O'Connell, Maksim Struchalin, Toshiko Tanaka, Guo Li, Andrew D Johnson, Hinco J Gierman, Mary Feitosa, Shih-Jen Hwang, Elizabeth J Atkinson, Kurt Lohman, Marilyn C Cornelis, Åsa Johansson, Anke Tönjes, Abbas Dehghan, Vincent Chouraki, Elizabeth G Holliday, Rossella Sorice, Zoltan Kutalik, Terho Lehtimäki, Tõnu Esko, Harshal Deshmukh, Sheila Ulivi, Audrey Y Chu, Federico Murgia, Stella Trompet, Medea Imboden, Barbara Kollerits, Giorgio Pistis, CARDIoGRAM Consortium, ICBP Consortium, CARe Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Tamara B Harris, Lenore J Launer, Thor Aspelund, Gudny Eiriksdottir, Braxton D Mitchell, Eric Boerwinkle, Helena Schmidt, Margherita Cavalieri, Madhumathi Rao, Frank B Hu, Ayse Demirkan, Ben A Oostra, Mariza de Andrade, Stephen T Turner, Jingzhong Ding, Jeanette S Andrews, Barry I Freedman, Wolfgang Koenig, Thomas Illig, Angela Döring, H-Erich Wichmann, Ivana Kolcic, Tatijana Zemunik, Mladen Boban, Cosetta Minelli, Heather E Wheeler, Wilmar Igl, Ghazal Zaboli, Sarah H Wild, Alan F Wright, Harry Campbell, David Ellinghaus, Ute Nöthlings, Gunnar Jacobs, Reiner Biffar, Karlhans Endlich, Florian Ernst, Georg Homuth, Heyo K Kroemer, Matthias Nauck, Sylvia Stracke, Uwe Völker, Henry Völzke, Peter Kovacs, Michael Stumvoll, Reedik Mägi, Albert Hofman, Andre G Uitterlinden, Fernando Rivadeneira, Yurii S Aulchenko, Ozren Polasek, Nick Hastie, Veronique Vitart, Catherine Helmer, Jie Jin Wang, Daniela Ruggiero, Sven Bergmann, Mika Kähönen, Jorma Viikari, Tiit Nikopensius, Michael Province, Shamika Ketkar, Helen Colhoun, Alex Doney, Antonietta Robino, Franco Giulianini, Bernhard K Krämer, Laura Portas, Ian Ford, Brendan M Buckley, Martin Adam, Gian-Andri Thun, Bernhard Paulweber, Margot Haun, Cinzia Sala, Marie Metzger, Paul Mitchell, Marina Ciullo, Stuart K Kim, Peter Vollenweider, Olli Raitakari, Andres Metspalu, Colin Palmer, Paolo Gasparini, Mario Pirastu, J Wouter Jukema, Nicole M Probst-Hensch, Florian Kronenberg, Daniela Toniolo, Vilmundur Gudnason, Alan R Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, David S Siscovick, Cornelia M van Duijn, Ingrid Borecki, Sharon L R Kardia, Yongmei Liu, Gary C Curhan, Igor Rudan, Ulf Gyllensten, James F Wilson, Andre Franke, Peter P Pramstaller, Rainer Rettig, Inga Prokopenko, Jacqueline C M Witteman, Caroline Hayward, Paul Ridker, Afshin Parsa, Murielle Bochud, Iris M Heid, Wolfram Goessling, Daniel I Chasman, W H Linda Kao, and Caroline S Fox

Subjects
Genetics, QH426-470
Abstract

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.

Published
2012
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