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3. List of Contributors

Author

Abusief, Mary E., primary, Acevedo-Garcia, Dolores, additional, Albert, Christine, additional, Lee Alekel, D., additional, Alemany, Laia, additional, Allen, Kelli D., additional, Anderson, Lauren M., additional, Apelberg, Benjamin J., additional, Atrash, Hani K., additional, Baird, Donna Day, additional, Merz, Noel Bairey C., additional, Baldwin, Carol M., additional, Barbieri, Robert L., additional, Baron, Shirley R., additional, Bassuk, Shari S., additional, Bates, Lisa M., additional, Beasley, Jeannette M., additional, Bell, Iris R., additional, Bergeman, C.S., additional, Berkman, Lisa F., additional, Bernstein, Jonine L., additional, Bernstein, Leslie, additional, Bertone-Johnson, Elizabeth R., additional, Beth Thomeer, Mieke, additional, Bisconti, Toni L., additional, Blair, Janet, additional, Bonifas, Robin P., additional, Bosch, Xavier F., additional, Bradford, Judith, additional, Bray, Freddie, additional, Brooks, Jennifer D., additional, Bromberger, Joyce, additional, Brown, Joelle M., additional, Bruni, Laia, additional, Bulik, Cynthia M., additional, Burkman, Ronald T., additional, Burstein, Marcy, additional, Bushnell, Cheryl, additional, Buss, Mary K., additional, Cauley, Jane A., additional, Celum, Connie L., additional, Chen, Xinhua, additional, Chevarie-Davis, Myriam, additional, Chiuve, Stephanie, additional, Chocano-Bedoya, Patricia O., additional, Chowdhary, Harjinder, additional, Christiani, David C., additional, Chung, Nadia T., additional, Clancy, Carolyn M., additional, Clark, Cari Jo, additional, Conen, David, additional, Costenbader, K.H., additional, Devlin, Amy, additional, Diaz, Mireia, additional, Douwes, Jeroen, additional, Drangsholt, Mark, additional, Driscoll, Ira, additional, DuBeau, Catherine E., additional, Edwards, Emmeline, additional, Ehrenstein, Vera, additional, Escalante, Agustín, additional, Espeland, Mark A., additional, Fitzgerald, Kathryn C., additional, Foxman, Betsy, additional, Franco, Eduardo, additional, Fraser, William D., additional, Fredriksen-Goldsen, Karen I., additional, Freeman, Ellen E., additional, Friesen, Melissa C., additional, Gadermann, Anne M., additional, Gaudet, Mia M., additional, Gavrilidis, Emmy, additional, Gaydos, Charlotte A, additional, Geronimo, Kimberly, additional, Geronimus, Arline T., additional, Gillespie, Robin Mary, additional, Giovannucci, Edward, additional, Glanz, Karen, additional, Glynn, Robert J., additional, Gold, Ellen, additional, Goldfarb, Shari, additional, Goldman, Marlene B., additional, Gower, Emily W., additional, Grainger, David A., additional, Green, Adèle C., additional, Haggerty, Catherine L., additional, Hardy, Rebecca, additional, Harlow, Bernard L., additional, Harlow, Siobán D., additional, Hartge, Patricia, additional, Haskin, Christine, additional, Herbert, Robin, additional, Holt, Victoria L., additional, Hoover, Robert N., additional, Houtchens, Maria K., additional, Husten, Corinne G., additional, Hwang, Loris Y., additional, Hynes, Noreen A., additional, James, Peter, additional, Jewell, Elizabeth, additional, Johnson, Susan K., additional, Joshi, Pamela, additional, Joshu, Corinne E., additional, Kamb, Mary L., additional, Karvonen-Gutierrez, Carrie, additional, Kessler, Ronald C., additional, Khandker, Maheruh, additional, Khoury, Samia J., additional, Klein, Autumn M., additional, Koloski, Natasha A., additional, Kuh, Diana, additional, Kulkarni, Jayashri, additional, Kuller, Lewis H., additional, Lacey, James V., additional, LaCroix, Andrea Z., additional, Laden, Francine, additional, Lash, Timothy L., additional, Laughlin-Tommaso, Shannon K., additional, Lee, Cathy C., additional, Lee, Ji Youn, additional, Lee, Stephanie L., additional, LeResche, Linda, additional, Leveille, Suzanne G., additional, Lewis, Jannet F., additional, Lin, Frank R., additional, Tessler Lindau, Stacy, additional, Lindbohm, Marja-Liisa, additional, Liu, Simin, additional, Lloyd-Jones, Donald M., additional, Lortet-Tieulent, Joannie, additional, Lucas, Andrea, additional, Mackey, Rachel H., additional, Mager Stellman, Jeanne, additional, Malarcher, Ann Marie, additional, Manson, JoAnn E., additional, Margesson, Lynette J., additional, Maria Glymour, M., additional, Marrazzo, Jeanne M., additional, Matthews, Karen, additional, Mazzeo, Suzanne E., additional, McCarthy, Ellen P., additional, McCormack, Valerie, additional, McElrath, Thomas F., additional, McMaster, Romy-Leigh, additional, McTigue, Kathleen M., additional, Merikangas, Kathleen Ries, additional, Merz, C. Noel Bairey, additional, Messing, Karen, additional, Miller, Anthony B., additional, Mishell, Daniel R., additional, Missmer, Stacey A., additional, Mobley, Connie, additional, Moscicki, Anna-Barbara, additional, Muffly, Tyler, additional, Muzny, Christina A., additional, Nelson, Amanda E., additional, Nelson, Toben F., additional, O’Dell, Katharine K., additional, Olsen, Catherine M., additional, Olson, Sara H., additional, Osypuk, Theresa L., additional, Palmer, Julie R., additional, Paramsothy, Pangaja, additional, Parke, Ann L., additional, Patrick, Heather, additional, Paulus, Jessica K., additional, Paxton, Lynn, additional, Pearce, Neil, additional, Perti, Tara, additional, Pitzer, Lindsay, additional, Platz, Elizabeth A., additional, Potischman, Nancy, additional, Punnett, Laura, additional, Ramsey-Goldman, Rosalind, additional, Ranji, Usha, additional, Rastogi, Radhai M., additional, Reckelhoff, Jane F., additional, Resnick, Barbara, additional, Rexrode, Kathryn M., additional, Rigterink, Ellen S., additional, Rillamas-Sun, Eileen, additional, Robinson, Cara A., additional, Robinson, Jennifer G., additional, Robson, Mark E., additional, Rompalo, Anne M., additional, Saftlas, Audrey F., additional, Salganicoff, Alina, additional, Sallmén, Markku, additional, Sanjosé, Silvia de, additional, Sarto, Gloria E., additional, Sass, Samantha, additional, Savage, Sharon A., additional, Schildkraut, Joellen, additional, Schmaling, Karen, additional, Schmitz, Anja, additional, Scholl, Theresa O., additional, Schwebke, Jane R., additional, Scott, Stacey B., additional, Seedat, Soraya, additional, Seeman, Mary V., additional, Seow, Adeline, additional, Shah, Rashmee U., additional, Collins Sharp, Beth A., additional, Shin, Hai-Rim, additional, Shoupe, Donna, additional, Silverman, Debra T., additional, Snow, Rachel C., additional, Sophia, Eglacy C., additional, Sowers, MaryFran R., additional, Spaderna, Heike, additional, Stahre, Mandy, additional, Stewart, Elizabeth G., additional, Stuenkel, Cynthia A., additional, Stussman, Barbara, additional, Suliman, Sharain, additional, Talley, Nicholas J., additional, Taskinen, Helena, additional, Tatpati, Laura L., additional, Thomeer, Mieke Beth, additional, Titus, Linda J., additional, Tjaden, Bruce L., additional, Trabert, Britton, additional, Trace, Sara E., additional, Traverse, William, additional, Troisi, Rebecca, additional, Troped, Philip J., additional, Umberson, Debra, additional, Upson, Kristen, additional, Wagenen, Aimee Van, additional, Wald, Anna, additional, Wang, James K.C., additional, Ward, Mary H., additional, Wei, Shu-Qin, additional, Weidner, Gerdi, additional, Wentzensen, Nicolas, additional, Whiteside, James L., additional, Williams, Kristi, additional, Windham, Gayle C., additional, Wiringa, Ann E., additional, Wise, Lauren A., additional, Wofford, Marion, additional, Wu, Anna H., additional, Yaffe, Kristine, additional, Yang, Frances M., additional, Yunus, Muhammad B., additional, Zahm, Shelia Hoar, additional, Zera, Chloe A., additional, and Zilberman, Monica L., additional

Published
2013
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4. Gene-environment interaction between HLA-DRB1 shared epitope and heavy cigarette smoking in predicting incident rheumatoid arthritis

Author

Karlson, E.W., Chang, S.-C., Cui, J., Chibnik, L.B., Fraser, P.A., De Vivo, I., and Costenbader, K.H.

Subjects
Rheumatoid arthritis -- Risk factors, Rheumatoid arthritis -- Genetic aspects, Rheumatoid arthritis -- Research, Histocompatibility antigens -- Research, HLA histocompatibility antigens -- Research, Smoking -- Health aspects, Smoking -- Research, Antigenic determinants -- Research, Health
Published
2010

5. Performance of the 2019 EULAR/ACR classification criteria for systemic lupus erythematosus in early disease, across sexes and ethnicities

Author

Johnson, S.R. Brinks, R. Costenbader, K.H. Daikh, D. Mosca, M. Ramsey-Goldman, R. Smolen, J.S. Wofsy, D. Boumpas, D.T. Kamen, D.L. Jayne, D. Cervera, R. Costedoat-Chalumeau, N. Diamond, B. Gladman, D.D. Hahn, B. Hiepe, F. Jacobsen, Sø. Khanna, D. Lerstrøm, K. Massarotti, E. McCune, J. Ruiz-Irastorza, G. Sanchez-Guerrero, J. Schneider, M. Urowitz, M. Bertsias, G. Hoyer, B.F. Leuchten, N. Tani, C. Tedeschi, S.K. Touma, Z. Schmajuk, G. Anic, B. Assan, F. Chan, T.M. Clarke, A.E. Crow, M.K. Czirják, L. Doria, A. Graninger, W.B. Halda-Kiss, B. Hasni, S. Izmirly, P.M. Jung, M. Kumánovics, G. Mariette, X. Padjen, I. Pego-Reigosa, J.M. Romero-Diaz, J. Rúa-Figueroa, Í. Seror, R. Stummvoll, G.H. Tanaka, Y. Tektonidou, M.G. Vasconcelos, C. Vital, E.M. Wallace, D.J. Yavuz, S. Meroni, P.L. Fritzler, M.J. Naden, R. Dörner, T. Aringer, M.

Subjects
musculoskeletal diseases, immune system diseases, skin and connective tissue diseases
Abstract

Objectives The European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) 2019 Classification Criteria for systemic lupus erythematosus (SLE) have been validated with high sensitivity and specificity. We evaluated the performance of the new criteria with regard to disease duration, sex and race/ethnicity, and compared its performance against the Systemic Lupus International Collaborating Clinics (SLICC) 2012 and ACR 1982/1997 criteria. Methods Twenty-one SLE centres from 16 countries submitted SLE cases and mimicking controls to form the validation cohort. The sensitivity and specificity of the EULAR/ACR 2019, SLICC 2012 and ACR 1982/1997 criteria were evaluated. Results The cohort consisted of female (n=1098), male (n=172), Asian (n=118), black (n=68), Hispanic (n=124) and white (n=941) patients; with an SLE duration of 1 to

Published
2020

7. Quantifying anti-cyclic citrullinated peptide titres: clinical utility and association with tobacco exposure in patients with rheumatoid arthritis

Author

Lee, D.M., Phillips, R., Hagan, E.M., Chibnik, L.B., Costenbader, K.H., and Schur, P.H.

Subjects
Citrulline -- Physiological aspects, Citrulline -- Research, Anti-antibodies -- Identification and classification, Anti-antibodies -- Physiological aspects, Anti-antibodies -- Research, Rheumatoid factor -- Identification and classification, Rheumatoid factor -- Physiological aspects, Rheumatoid factor -- Research, Rheumatoid arthritis -- Development and progression, Rheumatoid arthritis -- Demographic aspects, Rheumatoid arthritis -- Research, Smoking -- Health aspects, Smoking -- Research, Health
Published
2009

9. Cigarette smoking and radiographic progression in rheumatoid arthritis

Author

Finckh, A., Dehler, S., Costenbader, K.H., and Gabay, C.

Subjects
Smoking -- Health aspects, Smoking -- Research, Rheumatoid arthritis -- Development and progression, Rheumatoid arthritis -- Risk factors, Rheumatoid arthritis -- Genetic aspects, Rheumatoid arthritis -- Environmental aspects, Arthrography -- Evaluation, Rheumatoid factor, Health
Published
2007

10. Use of consensus methodology to determine candidate items for systemic lupus erythematosus classification criteria

Author

Johnson, S.R. Khanna, D. Daikh, D. Cervera, R. Costedoat-Chalumeau, N. Gladman, D.D. Hahn, B.H. Hiepe, F. Sánchez-Guerrero, J. Massarotti, E. Boumpas, D.T. Costenbader, K.H. Jayne, D. Dörner, T. Kamen, D.L. Mosca, M. Ramsey-Goldman, R. Smolen, J.S. Wofsy, D. Aringer, M.

Subjects
immune system diseases, skin and connective tissue diseases
Abstract

Objective. Given the complexity and heterogeneity of systemic lupus erythematosus (SLE), high-performing classification criteria are critical to advancing research and clinical care. A collaborative effort by the European League Against Rheumatism and the American College of Rheumatology was undertaken to generate candidate criteria, and then to reduce them to a smaller set. The objective of the current study was to select a set of criteria that maximizes the likelihood of accurate classification of SLE, particularly early disease. Methods. An independent panel of international SLE experts and the SLE classification criteria steering committee (conducting SLE research in Canada, Mexico, United States, Austria, Germany, Greece, France, Italy, and Spain) ranked 43 candidate criteria. A consensus meeting using nominal group technique (NGT) was conducted to reduce the list of criteria for consideration. Results. The expert panel NGT exercise reduced the candidate criteria for SLE classification from 43 to 21. The panel distinguished potential "entry criteria," which would be required for classification, from potential "additive criteria." Potential entry criteria were antinuclear antibody (ANA) = 1:80 (HEp-2 immunofluorescence), and low C3 and/or low C4. The use of low complement as an entry criterion was considered potentially useful in cases with negative ANA. Potential additive criteria included lupus nephritis by renal biopsy, autoantibodies, cytopenias, acute and chronic cutaneous lupus, alopecia, arthritis, serositis, oral mucosal lesions, central nervous system manifestations, and fever. Conclusion. The NGT exercise resulted in 21 candidate SLE classification criteria. The next phases of SLE classification criteria development will require refinement of criteria definitions, evaluation of the ability to cluster criteria into domains, and evaluation of weighting of criteria. Copyright © 2019. All rights reserved.

Published
2019

11. Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

Author

Din, L., Sheikh, M., Kosaraju, N., Smedby, K.E., Bernatsky, S., Berndt, S.I., Skibola, C.F., Nieters, A., McKay, J.D., Cocco, P., Maynadié, M., Foretová, L., Staines, A., Mack, T.M., de Sanjosé, S., Vyse, T.J., Padyukov, L., Monnereau, A., Arslan, A.A., Moore, A., Brooks-Wilson, A.R., Glimelius, B., Birmann, B.M., Link, B.K., Stewart, C., Vajdic, C.M., Haioun, C., Magnani, C., Conti, D.V., Cox, D.G., Casabonne, D., Albanes, D., Kane, E., Roman, E., Muzi, G., Salles, G., Giles, G.G., Adami, H.-O., Ghesquières, H., De Vivo, I., Clavel, J., Cerhan, J.R., Spinelli, J.J., Vijai, J., Curtin, K., Costenbader, K.H., Onel, K., Offit, K., Teras, L.R., Morton, L., Conde, L., Miligi, L., Melbye, M., Ennas, M.G., Liebow, M., Purdue, M.P., Glenn, M., Southey, M.C., Din, M., Rothman, N., Camp, N.J., Wong Doo, N., Becker, N., Pradhan, N., Bracci, P.M., Boffetta, P., Vineis, P., Brennan, P., Kraft, P., Lan, Q., Severson, R.K., Vermeulen, R.C.H., Milne, R.L., Kaaks, R., Travis, R.C., Weinstein, S.J., Chanock, S.J., Ansell, S.M., Slager, S.L., Zheng, T., Benavente, Y., Taub, Z., Madireddy, L., Gourraud, P.-A., Oksenberg, J.R., Cozen, W., Hjalgrim, H., Khankhanian, P., Din, L., Sheikh, M., Kosaraju, N., Smedby, K.E., Bernatsky, S., Berndt, S.I., Skibola, C.F., Nieters, A., McKay, J.D., Cocco, P., Maynadié, M., Foretová, L., Staines, A., Mack, T.M., de Sanjosé, S., Vyse, T.J., Padyukov, L., Monnereau, A., Arslan, A.A., Moore, A., Brooks-Wilson, A.R., Glimelius, B., Birmann, B.M., Link, B.K., Stewart, C., Vajdic, C.M., Haioun, C., Magnani, C., Conti, D.V., Cox, D.G., Casabonne, D., Albanes, D., Kane, E., Roman, E., Muzi, G., Salles, G., Giles, G.G., Adami, H.-O., Ghesquières, H., De Vivo, I., Clavel, J., Cerhan, J.R., Spinelli, J.J., Vijai, J., Curtin, K., Costenbader, K.H., Onel, K., Offit, K., Teras, L.R., Morton, L., Conde, L., Miligi, L., Melbye, M., Ennas, M.G., Liebow, M., Purdue, M.P., Glenn, M., Southey, M.C., Din, M., Rothman, N., Camp, N.J., Wong Doo, N., Becker, N., Pradhan, N., Bracci, P.M., Boffetta, P., Vineis, P., Brennan, P., Kraft, P., Lan, Q., Severson, R.K., Vermeulen, R.C.H., Milne, R.L., Kaaks, R., Travis, R.C., Weinstein, S.J., Chanock, S.J., Ansell, S.M., Slager, S.L., Zheng, T., Benavente, Y., Taub, Z., Madireddy, L., Gourraud, P.-A., Oksenberg, J.R., Cozen, W., Hjalgrim, H., and Khankhanian, P.

Abstract

Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional genetic of overlap, (b) polygenic risk score (PRS), (c)"diseasome", (d)meta-analysis. Descriptive analysis revealed few shared genetic factors between each AD and each NHL subtype. The PRS of ADs were not increased in NHL patients (nor vice versa). In the diseasome, NHLs shared more genetic etiology with ADs than solid cancers (p = .0041). A meta-analysis (combing AD with NHL) implicated genes of apoptosis and telomere length. This GWAS-based analysis four NHL subtypes and three ADs revealed few weakly-associated shared loci, explaining little total risk. This suggests common genetic variation, as assessed by GWAS in these sample sizes, may not be the primary explanation for the link between these ADs and NHLs.

Published
2019

12. Validation of new systemic lupus erythematosus classification criteria

Author

Aringer, M., Costenbader, K.H., Brinks, R., Boumpas, D., Daikh, D., Jayne, D., Kamen, D., Mosca, M., Ramsey-Goldman, R., Smolen, J.S., Wofsy, D., Diamond, B., Jacobsen, S., McCune, W.J., Ruiz-Irastorza, G., Schneider, M., Urowitz, M.B., Bertsias, G., Hoyer, B., Leuchten, N., Tani, C., Tedeschi, S., Touma, Z., Anić, Branimir, Assan, F., Chan, T.M., Clarke, A.E., Crow, M.K., Czírják, L., Doria, A., Graninger, W., Hasni, S., Izmirly, P., Jung, M., Kiss, B., Mariette, X., Padjen, Ivan, Pego- Reigosa, J.M., Romero-Díaz, J., Rúa-Figueroa, I., Seror, R., Stummvoll, G., Tanaka, Y., Tektonidou, M., Vasconcelos, C., Vital, E., Wallace, D.J., Yavuz, S., Naden, R.P., Dörner, T., and Johnson, S.R.

Subjects
musculoskeletal diseases, SLE, classification criteria, immune system diseases, systemic lupus erythematosus, skin and connective tissue diseases
Abstract

Background/Purpose: Correct classification of patients with systemic lupus erythematosus (SLE) is critical for clinical trials and clinical and translational science. The ACR 1997 criteria were criticized for their suboptimal sensitivity. The Systemic Lupus International Cooperating Clinics (SLICC) 2012 criteria increased sensitivity, but at the price of reduced specificity. This and further advances in the field led to the current four phase SLE criteria project. Following an item generation phase and item reduction via a Delphi and a nominal group exercise (1), the provisional criteria were derived from a multicriteria decision analysis exercise (2). These criteria were hence simplified and validated in a large international cohort. Methods: A large international cohort of 2, 321 patients was collected from 23 SLE expert centers, contributing up to 100 patients with SLE and with non-SLE, each. Diagnoses were verified by 3 independent reviewers for 1, 193 SLE and 1, 059 non- SLE patients. 501 randomly selected SLE and 500 non-SLE patients formed the derivation cohort. All other patients with confirmed SLE or non-SLE diagnosis formed the validation cohort. Sensitivity and specificity were compared to the ACR 1997 and the SLICC 2012 criteria. Results: The criteria were fine-tuned and simplified, using ANA of ≥1:80 as entry criterion and a classification threshold of 10. Items can only be counted for classification if there is no more likely cause, and at least one clinical item must be present.

Published
2018
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13. OP0020 Validation of new systemic lupus erythematosus classification criteria

Author

Aringer, M., primary, Costenbader, K.H., additional, Brinks, R., additional, Boumpas, D., additional, Daikh, D., additional, Jayne, D., additional, Kamen, D., additional, Mosca, M., additional, Ramsey-Goldman, R., additional, Smolen, J.S., additional, Wofsy, D., additional, Diamond, B., additional, Jacobsen, S., additional, McCune, W.J., additional, Ruiz-Irastorza, G., additional, Schneider, M., additional, Urowitz, M.B., additional, Bertsias, G., additional, Hoyer, B., additional, Leuchten, N., additional, Tani, C., additional, Tedeschi, S., additional, Touma, Z., additional, Anic, B., additional, Assan, F., additional, Chan, T.M., additional, Clarke, A.E., additional, Crow, M.K., additional, Czírják, L., additional, Doria, A., additional, Graninger, W., additional, Hasni, S., additional, Izmirly, P., additional, Jung, M., additional, Kiss, B., additional, Mariette, X., additional, Padjen, I., additional, Pego-Reigosa, J.M., additional, Romero-Díaz, J., additional, Rúa-Figueroa, I., additional, Seror, R., additional, Stummvoll, G., additional, Tanaka, Y., additional, Tektonidou, M., additional, Vasconcelos, C., additional, Vital, E., additional, Wallace, D.J., additional, Yavuz, S., additional, Naden, R.P., additional, Dörner, T., additional, and Johnson, S.R., additional

Published
2018
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16. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

Author

Stahl, E.A., Raychaudhuri, S., Remmers, E.F., Xie, G., Eyre, S., Thomson, B.P., Li, Y.H., Kurreeman, F.A.S., Zhernakova, A., Hinks, A., Guiducci, C., Chen, R., Alfredsson, L., Amos, C.I., Ardlie, K.G., Barton, A., Bowes, J., Brouwer, E., Burtt, N.P., Catanese, J.J., Coblyn, J., Coenen, M.J.H., Costenbader, K.H., Criswell, L.A., Crusius, J.B.A., Cui, J., Bakker, P.I.W. de, Jager, P.L. de, Ding, B., Emery, P., Flynn, E., Harrison, P., Hocking, L.J., Huizinga, T.W.J., Kastner, D.L., Ke, X.Y., Lee, A.T., Liu, X.D., Martin, P., Morgan, A.W., Padyukov, L., Posthumus, M.D., Radstake, T.R.D.J., Reid, D.M., Seielstad, M., Seldin, M.F., Shadick, N.A., Steer, S., Tak, P.P., Thomson, W., Helm-van Mil, A.H.M. van der, Horst-Bruinsma, I.E. van der, Schoot, C.E. van der, Riel, P.L.C.M. van, Weinblatt, M.E., Wilson, A.G., Wolbink, G.J., Wordsworth, B.P., Wijmenga, C., Karlson, E.W., Toes, R.E.M., Vries, N. de, Begovich, A.B., Worthington, J., Siminovitch, K.A., Gregersen, P.K., Klareskog, L., Plenge, R.M., BIRAC Consortium, and YEAR Consortium

Subjects
systemic-lupus-erythematosus susceptibility loci celiac-disease variants gene common region polymorphisms confirmation replication
Abstract

To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid arthritis (cases) and 20,169 controls of European descent, followed by replication in an independent set of 6,768 rheumatoid arthritis cases and 8,806 controls. Of 34 SNPs selected for replication, 7 new rheumatoid arthritis risk alleles were identified at genome-wide significance (P < 5 x 10(-8)) in an analysis of all 41,282 samples. The associated SNPs are near genes of known immune function, including IL6ST, SPRED2, RBPJ, CCR6, IRF5 and PXK. We also refined associations at two established rheumatoid arthritis risk loci (IL2RA and CCL21) and confirmed the association at AFF3. These new associations bring the total number of confirmed rheumatoid arthritis risk loci to 31 among individuals of European ancestry. An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles.

Published
2010

17. The 2010 American College of Rheumatology/European League Against Rheumatism classification criteria for rheumatoid arthritis: Phase 2 methodological report

Author

Neogi, T. (Tuhina), Aletaha, D. (Daniel), Silman, A.J. (Alan), Naden, R.L. (Raymond), Felson, D., Aggarwal, R. (Rohit), Bingham, C.O. (Clifton), Birnbaum, N.S. (Neal), Burmester, G.R. (Gerd), Bykerk, V.P. (Vivian), Cohen, M.D. (Marc), Combe, B. (Bernard), Costenbader, K.H. (Karen), Dougados, M. (Maxime), Emery, P. (Paul), Ferraccioli, G. (Gianfranco), Hazes, J.M.W. (Mieke), Hobbs, K. (Kathryn), Huizinga, T.W.J. (Tom), Kavanaugh, A. (Arthur), Kay, J. (Jonathan), Khanna, D. (Dinesh), Kvien, T.K. (Tore), Laing, T. (Timothy), Liao, K. (Katherine), Mease, P. (Philip), Ménard, H.A. (Henri), Moreland, L.W. (Larry), Nair, R. (Raj), Pincus, T. (Theodore), Ringold, S. (Sarah), Smolen, J.S. (Josef), Stanislawska-Biernat, E. (Ewa), Symmons, D. (Deborah), Tak, P.P. (Paul), Upchurch, K.S. (Katherine), Vencovský, J. (Jiří), Wolfe, F. (Frederick), Hawker, G. (Gillian), Neogi, T. (Tuhina), Aletaha, D. (Daniel), Silman, A.J. (Alan), Naden, R.L. (Raymond), Felson, D., Aggarwal, R. (Rohit), Bingham, C.O. (Clifton), Birnbaum, N.S. (Neal), Burmester, G.R. (Gerd), Bykerk, V.P. (Vivian), Cohen, M.D. (Marc), Combe, B. (Bernard), Costenbader, K.H. (Karen), Dougados, M. (Maxime), Emery, P. (Paul), Ferraccioli, G. (Gianfranco), Hazes, J.M.W. (Mieke), Hobbs, K. (Kathryn), Huizinga, T.W.J. (Tom), Kavanaugh, A. (Arthur), Kay, J. (Jonathan), Khanna, D. (Dinesh), Kvien, T.K. (Tore), Laing, T. (Timothy), Liao, K. (Katherine), Mease, P. (Philip), Ménard, H.A. (Henri), Moreland, L.W. (Larry), Nair, R. (Raj), Pincus, T. (Theodore), Ringold, S. (Sarah), Smolen, J.S. (Josef), Stanislawska-Biernat, E. (Ewa), Symmons, D. (Deborah), Tak, P.P. (Paul), Upchurch, K.S. (Katherine), Vencovský, J. (Jiří), Wolfe, F. (Frederick), and Hawker, G. (Gillian)

Abstract

Objective. The American College of Rheumatology and the European League Against Rheumatism have developed new classification criteria for rheumatoid arthritis (RA). The aim of Phase 2 of the development process was to achieve expert consensus on the clinical and laboratory variables that should contribute to the final criteria set. Methods. Twenty-four expert RA clinicians (12 from Europe and 12 from North America) participated in Phase 2. A consensus-based decision analysis approach was used to identify factors (and their relative weights) that influence the probability of "developing RA," complemented by data from the Phase 1 study. Patient case scenarios were used to identify and reach consensus on factors important in determining the probability of RA development. Decision analytic software was used to derive the relative weights for each of the factors and their categories, using choice-based conjoint analysis. Results. The expert panel agreed that the new classification criteria should be applied to individuals with undifferentiated inflammatory arthritis in whom at least 1 joint is deemed by an expert assessor to be swollen, indicating definite synovitis. In this clinical setting, they identified 4 additional criteria as being important: number of joints involved and site of involvement, serologic abnormality, acute-phase response, and duration of symptoms in the involved joints. These criteria were consistent with those identified in the Phase 1 data-driven approach. Conclusion. The consensus-based, decision analysis approach used in Phase 2 complemented the Phase 1 efforts. The 4 criteria and their relative weights form the basis of the final criteria set.

Published
2010
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18. 2010 Rheumatoid arthritis classification criteria: An American College of Rheumatology/European League Against Rheumatism collaborative initiative

Author

Aletaha, D. (Daniel), Neogi, T. (Tuhina), Silman, A.J. (Alan), Funovits, J. (Julia), Felson, D., Bingham, C.O. (Clifton), Birnbaum, N.S. (Neal), Burmester, G.R. (Gerd), Bykerk, V.P. (Vivian), Cohen, M.D. (Marc), Combe, B. (Bernard), Costenbader, K.H. (Karen), Dougados, M. (Maxime), Emery, P. (Paul), Ferraccioli, G. (Gianfranco), Hazes, J.M.W. (Mieke), Hobbs, K. (Kathryn), Huizinga, T.W.J. (Tom), Kavanaugh, A. (Arthur), Kay, J. (Jonathan), Kvien, T.K. (Tore), Laing, T. (Timothy), Mease, P. (Philip), Ménard, H.A. (Henri), Moreland, L.W. (Larry), Naden, R.L. (Raymond), Pincus, T. (Theodore), Smolen, J.S. (Josef), Stanislawska-Biernat, E. (Ewa), Symmons, D. (Deborah), Tak, P.P. (Paul), Upchurch, K.S. (Katherine), Vencovský, J. (Jiří), Wolfe, F. (Frederick), Hawker, G. (Gillian), Aletaha, D. (Daniel), Neogi, T. (Tuhina), Silman, A.J. (Alan), Funovits, J. (Julia), Felson, D., Bingham, C.O. (Clifton), Birnbaum, N.S. (Neal), Burmester, G.R. (Gerd), Bykerk, V.P. (Vivian), Cohen, M.D. (Marc), Combe, B. (Bernard), Costenbader, K.H. (Karen), Dougados, M. (Maxime), Emery, P. (Paul), Ferraccioli, G. (Gianfranco), Hazes, J.M.W. (Mieke), Hobbs, K. (Kathryn), Huizinga, T.W.J. (Tom), Kavanaugh, A. (Arthur), Kay, J. (Jonathan), Kvien, T.K. (Tore), Laing, T. (Timothy), Mease, P. (Philip), Ménard, H.A. (Henri), Moreland, L.W. (Larry), Naden, R.L. (Raymond), Pincus, T. (Theodore), Smolen, J.S. (Josef), Stanislawska-Biernat, E. (Ewa), Symmons, D. (Deborah), Tak, P.P. (Paul), Upchurch, K.S. (Katherine), Vencovský, J. (Jiří), Wolfe, F. (Frederick), and Hawker, G. (Gillian)

Abstract

Objective. The 1987 American College of Rheumatology (ACR; formerly, the American Rheumatism Association) classification criteria for rheumatoid arthritis (RA) have been criticized for their lack of sensitivity in early disease. This work was undertaken to develop new classification criteria for RA. Methods. A joint working group from the ACR and the European League Against Rheumatism developed, in 3 phases, a new approach to classifying RA. The work focused on identifying, among patients newly presenting with undifferentiated inflammatory synovitis, factors that best discriminated between those who were and those who were not at high risk for persistent and/or erosive disease - this being the appropriate current paradigm underlying the disease construct "rheumatoid arthritis." Results. In the new criteria set, classification as "definite RA" is based on the confirmed presence of synovitis in at least 1 joint, absence of an alternative diagnosis that better explains the synovitis, and achievement of a total score of 6 or greater (of a possible 10) from the individual scores in 4 domains: number and site of involved joints (score range 0-5), serologic abnormality (score range 0-3), elevated acute-phase response (score range 0-1), and symptom duration (2 levels; range 0-1). Conclusion. This new classification system redefines the current paradigm of RA by focusing on features at earlier stages of disease that are associated with persistent and/or erosive disease, rather th

Published
2010
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20. Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

Author

Paul Brennan, M. G. Ennas, Qing Lan, Sasha Bernatsky, Alan A. Arslan, Peter Kraft, Lohith Madireddy, Roel Vermeulen, Kenan Onel, Graham G. Giles, John J. Spinelli, Eleanor Kane, Bengt Glimelius, Alexandra Nieters, David V. Conti, Christine F. Skibola, Pouya Khankhanian, Amy Moore, Ruth C. Travis, Mads Melbye, Sonja I. Berndt, Mark Liebow, Lauren R. Teras, Pierluigi Cocco, Lennox Din, Alain Monnereau, Mark P. Purdue, Lenka Foretova, Stephen J. Chanock, Stephen M. Ansell, Angela Brooks-Wilson, Wendy Cozen, Kenneth Offit, Demetrius Albanes, Anne J. Novak, Melissa C. Southey, Paolo Boffetta, Nicola J. Camp, James R. Cerhan, Rudolph Kaaks, Silvia de Sanjosé, Karen Curtin, Sophia S. Wang, James McKay, Nicole Wong Doo, Hans-Olov Adami, Tongzhang Zheng, Claire M. Vajdic, Nisha Pradhan, Giacomo Muzi, Gilles Salles, Nathaniel Rothman, Yolanda Benavente, Marc Maynadié, Brian K. Link, Delphine Casabonne, Hervé Ghesquières, Joseph Vijai, Karin E. Smedby, Paige M. Bracci, David G. Cox, Brenda M. Birmann, Lucia Miligi, Carolyn Stewart, Lucia Conde, Leonid Padyukov, Eve Roman, Richard K. Severson, Jorge R. Oksenberg, Immaculata De Vivo, Yawei Zhang, Corrado Magnani, Jacqueline Clavel, Lindsay M. Morton, Corinne Haioun, Jonathan N. Hofmann, Karen H. Costenbader, Pierre-Antoine Gourraud, Mohammad Sheikh, Stephanie J. Weinstein, Susan L. Slager, Paolo Vineis, Nikitha Kosaraju, Zachary Taub, Henrik Hjalgrim, Roger L. Milne, Morris Din, Martha Glenn, Nikolaus Becker, Timothy J. Vyse, Thomas M. Mack, Anthony Staines, Department of Medicine, Clinical Epidemiology, McGill University Health Center [Montreal] (MUHC), National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Emory University [Atlanta, GA], Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany, International Agency for Cancer Research (IACR), Department of Public Health, Vientiane Municipality, Registre des hémopathies malignes de Côte d'Or, Masaryk Memorial Cancer Institute and Medical Faculty of Masaryk University, GRAPHOS - IFROSS Recherche, Université Jean Moulin - Lyon 3 (UJML), Université de Lyon-Université de Lyon, Faculty of Medicine, Section of Rheumatology, Imperial College London, Karolinska Institutet [Stockholm], Epidémiologie environnementale des cancers, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Chemistry and Biochemistry [Boulder], University of Colorado [Boulder], Uppsala Universitet [Uppsala], Carver College of Medicine, University of Iowa, Service d'hématologie clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Division of Cancer Epidemiology and Genetics, National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH), Health Sciences, University of York [York, UK], Service de Radio-Oncologie [Lyon], Hospices Civils de Lyon (HCL)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), University of Melbourne, Centre Léon Bérard [Lyon], Mayo Clinic [Rochester], Occupational and Environmental Epidemiology Branch [Bethesda, Maryland], Division of Cancer Epidemiology and Genetics [Bethesda, Maryland], National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH)-National Cancer Institute [Bethesda] (NCI-NIH), Memorial Sloane Kettering Cancer Center [New York], Huntsman Cancer Institute, Clinical Genetics Service, ISPO - Cancer Prevention and Research Institute, Unit of Environmental and Occupational Epidemiology, Dept. of Epidemiology Research, Statens Serum Institut [Copenhagen], B.B. Brodie Department of Neuroscience, Department of Pathology, Division of Cancer Epidemiology, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Unit of Environment Cancer Epidemiology, IARC, University of Torino and CPO-Piemonte, Università degli studi di Torino (UNITO), Department of Epidemiology, Harvard School of Public Health, Wayne State University [Detroit], Division of Environmental Epidemiology, Institute for Risk Assessment Sciences, Cancer Epidemiology Centre, Cancer Council Victoria, Cancer Epidemiology Unit, University of Oxford [Oxford], De la Molécule aux Nanos-objets : Réactivité, Interactions et Spectroscopies (MONARIS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Catalan Institute of Oncology (ICO), Department of Neurology [San Francisco, CA, USA], University of California [San Francisco] (UCSF), University of California-University of California, Norris Comprehensive Cancer Center, Masaryk University [Brno] (MUNI), Università degli studi di Torino = University of Turin (UNITO), University of California [San Francisco] (UC San Francisco), University of California (UC)-University of California (UC), Imperial College London, University of Oxford, Din L., Sheikh M., Kosaraju N., Smedby K.E., Bernatsky S., Berndt S.I., Skibola C.F., Nieters A., Wang S., McKay J.D., Cocco P., Maynadie M., Foretova L., Staines A., Mack T.M., de Sanjose S., Vyse T.J., Padyukov L., Monnereau A., Arslan A.A., Moore A., Brooks-Wilson A.R., Novak A.J., Glimelius B., Birmann B.M., Link B.K., Stewart C., Vajdic C.M., Haioun C., Magnani C., Conti D.V., Cox D.G., Casabonne D., Albanes D., Kane E., Roman E., Muzi G., Salles G., Giles G.G., Adami H.-O., Ghesquieres H., De Vivo I., Clavel J., Cerhan J.R., Spinelli J.J., Hofmann J., Vijai J., Curtin K., Costenbader K.H., Onel K., Offit K., Teras L.R., Morton L., Conde L., Miligi L., Melbye M., Ennas M.G., Liebow M., Purdue M.P., Glenn M., Southey M.C., Din M., Rothman N., Camp N.J., Wong Doo N., Becker N., Pradhan N., Bracci P.M., Boffetta P., Vineis P., Brennan P., Kraft P., Lan Q., Severson R.K., Vermeulen R.C.H., Milne R.L., Kaaks R., Travis R.C., Weinstein S.J., Chanock S.J., Ansell S.M., Slager S.L., Zheng T., Zhang Y., Benavente Y., Taub Z., Madireddy L., Gourraud P.-A., Oksenberg J.R., Cozen W., Hjalgrim H., Khankhanian P., and Le Bihan, Sylvie

Subjects
Oncology, Male, Multifactorial Inheritance, Lymphoma, Epidemiology, Chronic lymphocytic leukemia, Follicular lymphoma, Genome-wide association study, Disease, Neurodegenerative, meta-analysi, immune system diseases, HLA Antigens, Risk Factors, hemic and lymphatic diseases, 2.1 Biological and endogenous factors, HLA Antigen, Aetiology, Genetics (clinical), Cancer, Allele, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Lymphoma, Non-Hodgkin, non-Hodgkin lymphoma, 030305 genetics & heredity, Single Nucleotide, Hematology, Middle Aged, 3. Good health, Public Health and Health Services, Female, Human, medicine.medical_specialty, autoimmune disease, genome-wide association study, meta-analysis, Alleles, Autoimmune Diseases, Humans, Polymorphism, Single Nucleotide, Genetic Predisposition to Disease, Non-Hodgkin, Article, 03 medical and health sciences, Rare Diseases, Internal medicine, Genetic variation, medicine, Genetics, Polymorphism, 030304 developmental biology, Autoimmune disease, business.industry, Multiple sclerosis, Risk Factor, Arthritis, Inflammatory and immune system, Human Genome, medicine.disease, Brain Disorders, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional genetic of overlap, (b) polygenic risk score (PRS), (c)"diseasome", (d)meta-analysis. Descriptive analysis revealed few shared genetic factors between each AD and each NHL subtype. The PRS of ADs were not increased in NHL patients (nor vice versa). In the diseasome, NHLs shared more genetic etiology with ADs than solid cancers (p = .0041). A meta-analysis (combing AD with NHL) implicated genes of apoptosis and telomere length. This GWAS-based analysis four NHL subtypes and three ADs revealed few weakly-associated shared loci, explaining little total risk. This suggests common genetic variation, as assessed by GWAS in these sample sizes, may not be the primary explanation for the link between these ADs and NHLs.

Published
2019
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