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733 results on '"Siminovitch, Katherine A."'

1. Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis

Author

Han, Younghun, Byun, Jinyoung, Zhu, Catherine, Sun, Ryan, Roh, Julia Y., Cordell, Heather J., Lee, Hyun-Sung, Shaw, Vikram R., Kang, Sung Wook, Razjouyan, Javad, Cooley, Matthew A., Hassan, Manal M., Siminovitch, Katherine A., Folseraas, Trine, Ellinghaus, David, Bergquist, Annika, Rushbrook, Simon M., Franke, Andre, Karlsen, Tom H., Lazaridis, Konstantinos N., McGlynn, Katherine A., Roberts, Lewis R., and Amos, Christopher I.

Published
2023
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2. Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis

Author

Ishigaki, Kazuyoshi, Sakaue, Saori, Terao, Chikashi, Luo, Yang, Sonehara, Kyuto, Yamaguchi, Kensuke, Amariuta, Tiffany, Too, Chun Lai, Laufer, Vincent A., Scott, Ian C., Viatte, Sebastien, Takahashi, Meiko, Ohmura, Koichiro, Murasawa, Akira, Hashimoto, Motomu, Ito, Hiromu, Hammoudeh, Mohammed, Emadi, Samar Al, Masri, Basel K., Halabi, Hussein, Badsha, Humeira, Uthman, Imad W., Wu, Xin, Lin, Li, Li, Ting, Plant, Darren, Barton, Anne, Orozco, Gisela, Verstappen, Suzanne M. M., Bowes, John, MacGregor, Alexander J., Honda, Suguru, Koido, Masaru, Tomizuka, Kohei, Kamatani, Yoichiro, Tanaka, Hiroaki, Tanaka, Eiichi, Suzuki, Akari, Maeda, Yuichi, Yamamoto, Kenichi, Miyawaki, Satoru, Xie, Gang, Zhang, Jinyi, Amos, Christopher I., Keystone, Edward, Wolbink, Gertjan, van der Horst-Bruinsma, Irene, Cui, Jing, Liao, Katherine P., Carroll, Robert J., Lee, Hye-Soon, Bang, So-Young, Siminovitch, Katherine A., de Vries, Niek, Alfredsson, Lars, Rantapää-Dahlqvist, Solbritt, Karlson, Elizabeth W., Bae, Sang-Cheol, Kimberly, Robert P., Edberg, Jeffrey C., Mariette, Xavier, Huizinga, Tom, Dieudé, Philippe, Schneider, Matthias, Kerick, Martin, Denny, Joshua C., Matsuda, Koichi, Matsuo, Keitaro, Mimori, Tsuneyo, Matsuda, Fumihiko, Fujio, Keishi, Tanaka, Yoshiya, Kumanogoh, Atsushi, Traylor, Matthew, Lewis, Cathryn M., Eyre, Stephen, Xu, Huji, Saxena, Richa, Arayssi, Thurayya, Kochi, Yuta, Ikari, Katsunori, Harigai, Masayoshi, Gregersen, Peter K., Yamamoto, Kazuhiko, Louis Bridges, Jr, S., Padyukov, Leonid, Martin, Javier, Klareskog, Lars, Okada, Yukinori, and Raychaudhuri, Soumya

Published
2022
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3. “PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black Patients”

Author

Cappadocia, Jacqueline, primary, Aiello, Lisa B., additional, Kelley, Michael J., additional, Katona, Bryson W., additional, Maxwell, Kara N., additional, Verma, Anurag, additional, Verma, Shefali S., additional, Bradford, Yuki, additional, Brock, Ashlei, additional, DerOhannessian, Stephanie, additional, Dudek, Scott, additional, Dunn, Joseph, additional, Drivas, Theodore, additional, Haubein, Ned, additional, Hu-Sain, Khadijah, additional, Judy, Renae, additional, Kloter, Ashley, additional, Ko, Yi-An, additional, Livingstone, Meghan, additional, Morrel, Linda, additional, Morse, Colleen, additional, Poindexter, Afiya, additional, Risman, Marjorie, additional, Tran, Teo, additional, Vadivieso, Fred, additional, Weaver, JoEllen, additional, Rader, Daniel J., additional, Ritchie, Marylyn D., additional, Feldman, Michael D., additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Overton, John D., additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Cantor, Michael, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Reid, Jeffrey G., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Abecasis, Goncalo, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Revez Ferreira, Manuel Allen, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Coppola, Giovanni, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Siminovitch, Katherine, additional, Praveen, Kavita, additional, Lotta, Luca A., additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Shuldiner, Alan, additional, Tzoneva, Gannie, additional, Rodriguez-Flores, Juan, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, Rana, Nadia, additional, Hernandez, Jaimee, additional, Baras, Aris, additional, Deubler, Andrew, additional, and Economides, Aris, additional

Published
2024
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5. Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

Author

Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., and Ferreira, Manuel A. R.

Published
2022
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6. P32 Statistical colocalization identifies twenty-four novel risk loci associated with disease risk of primary biliary cholangitis

Author

Mulcahy, Victoria, primary, Cordell, Heather, additional, Juran, Brian, additional, Atkinson, Elizabeth, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Andrade, Mariza de, additional, Jones, David, additional, Sandford, Richard, additional, Lazaridis, Konstantinos, additional, Amos, Chris, additional, Hirschfield, Gideon, additional, Seldin, Michael, additional, Invernizzi, Pietro, additional, Siminovitch, Katherine, additional, Wallace, Chris, additional, and Mells, George, additional

Published
2023
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7. The Arabidopsis SWI2/SNF2 chromatin Remodeler BRAHMA regulates polycomb function during vegetative development and directly activates the flowering repressor gene SVP.

Author

Li, Chenlong, Chen, Chen, Gao, Lei, Yang, Songguang, Nguyen, Vi, Shi, Xuejiang, Siminovitch, Katherine, Kohalmi, Susanne E, Huang, Shangzhi, Wu, Keqiang, Chen, Xuemei, and Cui, Yuhai

Subjects
Arabidopsis, Flowers, Plant Leaves, Chromosomal Proteins, Non-Histone, Histones, Arabidopsis Proteins, Transcription Factors, Chromatin Assembly and Disassembly, Gene Expression Regulation, Plant, Genome, Plant, Adenosine Triphosphatases, Polycomb-Group Proteins, Seedlings, Chromosomal Proteins, Non-Histone, Gene Expression Regulation, Plant, Genome, Genetics, Developmental Biology
Abstract

The chromatin remodeler BRAHMA (BRM) is a Trithorax Group (TrxG) protein that antagonizes the functions of Polycomb Group (PcG) proteins in fly and mammals. Recent studies also implicate such a role for Arabidopsis (Arabidopsis thaliana) BRM but the molecular mechanisms underlying the antagonism are unclear. To understand the interplay between BRM and PcG during plant development, we performed a genome-wide analysis of trimethylated histone H3 lysine 27 (H3K27me3) in brm mutant seedlings by chromatin immunoprecipitation followed by next generation sequencing (ChIP-seq). Increased H3K27me3 deposition at several hundred genes was observed in brm mutants and this increase was partially supressed by removal of the H3K27 methyltransferase CURLY LEAF (CLF) or SWINGER (SWN). ChIP experiments demonstrated that BRM directly binds to a subset of the genes and prevents the inappropriate association and/or activity of PcG proteins at these loci. Together, these results indicate a crucial role of BRM in restricting the inappropriate activity of PcG during plant development. The key flowering repressor gene SHORT VEGETATIVE PHASE (SVP) is such a BRM target. In brm mutants, elevated PcG occupancy at SVP accompanies a dramatic increase in H3K27me3 levels at this locus and a concomitant reduction of SVP expression. Further, our gain- and loss-of-function genetic evidence establishes that BRM controls flowering time by directly activating SVP expression. This work reveals a genome-wide functional interplay between BRM and PcG and provides new insights into the impacts of these proteins in plant growth and development.

Published
2015

8. The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share

Author

Kottyan, Leah C, Zoller, Erin E, Bene, Jessica, Lu, Xiaoming, Kelly, Jennifer A, Rupert, Andrew M, Lessard, Christopher J, Vaughn, Samuel E, Marion, Miranda, Weirauch, Matthew T, Namjou, Bahram, Adler, Adam, Rasmussen, Astrid, Glenn, Stuart, Montgomery, Courtney G, Hirschfield, Gideon M, Xie, Gang, Coltescu, Catalina, Amos, Chris, Li, He, Ice, John A, Nath, Swapan K, Mariette, Xavier, Bowman, Simon, Rischmueller, Maureen, Lester, Sue, Brun, Johan G, Gøransson, Lasse G, Harboe, Erna, Omdal, Roald, Cunninghame-Graham, Deborah S, Vyse, Tim, Miceli-Richard, Corinne, Brennan, Michael T, Lessard, James A, Wahren-Herlenius, Marie, Kvarnström, Marika, Illei, Gabor G, Witte, Torsten, Jonsson, Roland, Eriksson, Per, Nordmark, Gunnel, Ng, Wan-Fai, Anaya, Juan-Manuel, Rhodus, Nelson L, Segal, Barbara M, Merrill, Joan T, James, Judith A, Guthridge, Joel M, Scofield, R Hal, Alarcon-Riquelme, Marta, Bae, Sang-Cheol, Boackle, Susan A, Criswell, Lindsey A, Gilkeson, Gary, Kamen, Diane L, Jacob, Chaim O, Kimberly, Robert, Brown, Elizabeth, Edberg, Jeffrey, Alarcón, Graciela S, Reveille, John D, Vilá, Luis M, Petri, Michelle, Ramsey-Goldman, Rosalind, Freedman, Barry I, Niewold, Timothy, Stevens, Anne M, Tsao, Betty P, Ying, Jun, Mayes, Maureen D, Gorlova, Olga Y, Wakeland, Ward, Radstake, Timothy, Martin, Ezequiel, Martin, Javier, Siminovitch, Katherine, Sivils, Kathy L Moser, Gaffney, Patrick M, Langefeld, Carl D, Harley, John B, and Kaufman, Kenneth M

Subjects
Biological Sciences, Genetics, Autoimmune Disease, Biotechnology, Lupus, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Autoimmune Diseases, Bayes Theorem, Case-Control Studies, Cohort Studies, DNA-Binding Proteins, Haplotypes, Humans, Interferon Regulatory Factors, Lupus Erythematosus, Systemic, Male, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, beta Karyopherins, UK Primary Sjögren's Syndrome Registry, Medical and Health Sciences, Genetics & Heredity
Abstract

Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune diseases. Specifically, in systemic lupus erythematosus (SLE), we resolved separate associations in the IRF5 promoter (all ancestries) and with an extended European haplotype. We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases and 7367 controls. The genetic effect from the IRF5 promoter can be explained by any one of four variants in 5.7 kb (P-valuemeta = 6 × 10(-49); OR = 1.38-1.97). The second genetic effect spanned an 85.5-kb, 24-variant haplotype that included the genes IRF5 and TNPO3 (P-valuesEU = 10(-27)-10(-32), OR = 1.7-1.81). Many variants at the IRF5 locus with previously assigned biological function are not members of either final credible set of potential causal variants identified herein. In addition to the known biologically functional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter among the lowest frequentist probability and highest Bayesian posterior probability, was correlated with IRF5 expression and differentially binds the transcription factor ZBTB3. Our analytical strategy provides a novel framework for future studies aimed at dissecting etiological genetic effects. Finally, both SLE elements of the statistical model appear to operate in Sjögren's syndrome and systemic sclerosis whereas only the IRF5-TNPO3 gene-spanning haplotype is associated with primary biliary cirrhosis, demonstrating the nuance of similarity and difference in autoimmune disease risk mechanisms at IRF5-TNPO3.

Published
2015

9. SERPINH1variants and thrombotic risk among middle-aged and older adults: a population-based cohort study

Author

Manderstedt, Eric, Lind-Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Ferrando, Adolfo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, and Siminovitch, Katherine

Published
2024
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10. Genetics of rheumatoid arthritis contributes to biology and drug discovery.

Author

Okada, Yukinori, Wu, Di, Trynka, Gosia, Raj, Towfique, Terao, Chikashi, Ikari, Katsunori, Kochi, Yuta, Ohmura, Koichiro, Suzuki, Akari, Yoshida, Shinji, Graham, Robert, Manoharan, Arun, Ortmann, Ward, Bhangale, Tushar, Denny, Joshua, Carroll, Robert, Eyler, Anne, Greenberg, Jeffrey, Kremer, Joel, Pappas, Dimitrios, Jiang, Lei, Yin, Jian, Ye, Lingying, Su, Ding-Feng, Yang, Jian, Xie, Gang, Keystone, Ed, Westra, Harm-Jan, Esko, Tõnu, Metspalu, Andres, Zhou, Xuezhong, Gupta, Namrata, Mirel, Daniel, Stahl, Eli, Diogo, Dorothée, Cui, Jing, Liao, Katherine, Guo, Michael, Myouzen, Keiko, Kawaguchi, Takahisa, Coenen, Marieke, van Riel, Piet, van de Laar, Mart, Guchelaar, Henk-Jan, Huizinga, Tom, Dieudé, Philippe, Mariette, Xavier, Bridges, S, Zhernakova, Alexandra, Toes, Rene, Tak, Paul, Miceli-Richard, Corinne, Bang, So-Young, Lee, Hye-Soon, Martin, Javier, Gonzalez-Gay, Miguel, Rodriguez-Rodriguez, Luis, Rantapää-Dahlqvist, Solbritt, Arlestig, Lisbeth, Choi, Hyon, Kamatani, Yoichiro, Galan, Pilar, Lathrop, Mark, Eyre, Steve, Bowes, John, Barton, Anne, de Vries, Niek, Moreland, Larry, Karlson, Elizabeth, Taniguchi, Atsuo, Yamada, Ryo, Kubo, Michiaki, Liu, Jun, Bae, Sang-Cheol, Worthington, Jane, Padyukov, Leonid, Klareskog, Lars, Gregersen, Peter, Raychaudhuri, Soumya, Stranger, Barbara, De Jager, Philip, Franke, Lude, Visscher, Peter, Brown, Matthew, Yamanaka, Hisashi, Mimori, Tsuneyo, Takahashi, Atsushi, Xu, Huji, Behrens, Timothy, Siminovitch, Katherine, Momohara, Shigeki, Matsuda, Fumihiko, Yamamoto, Kazuhiko, Plenge, Robert, and Criswell, Lindsey

Subjects
Alleles, Animals, Arthritis, Rheumatoid, Asian People, Case-Control Studies, Computational Biology, Drug Discovery, Drug Repositioning, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Hematologic Neoplasms, Humans, Male, Mice, Mice, Knockout, Molecular Targeted Therapy, Polymorphism, Single Nucleotide, White People
Abstract

A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological data sets to provide insight into disease pathogenesis and guide drug discovery for complex traits such as rheumatoid arthritis (RA). Here we performed a genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries (29,880 RA cases and 73,758 controls), by evaluating ∼10 million single-nucleotide polymorphisms. We discovered 42 novel RA risk loci at a genome-wide level of significance, bringing the total to 101 (refs 2 - 4). We devised an in silico pipeline using established bioinformatics methods based on functional annotation, cis-acting expression quantitative trait loci and pathway analyses--as well as novel methods based on genetic overlap with human primary immunodeficiency, haematological cancer somatic mutations and knockout mouse phenotypes--to identify 98 biological candidate genes at these 101 risk loci. We demonstrate that these genes are the targets of approved therapies for RA, and further suggest that drugs approved for other indications may be repurposed for the treatment of RA. Together, this comprehensive genetic study sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis, and provides empirical evidence that the genetics of RA can provide important information for drug discovery.

Published
2014

11. SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study

Author

Abecasis, Goncalo, Ferrando, Adolfo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Siminovitch, Katherine, Manderstedt, Eric, Lind-Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, and Zöller, Bengt

Published
2024
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12. Meta‐analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis

Author

Chung, Sharon A, Xie, Gang, Roshandel, Delnaz, Sherva, Richard, Edberg, Jeffrey C, Kravitz, Megan, Dellaripa, Paul F, Hoffman, Gary S, Mahr, Alfred D, Seo, Philip, Specks, Ulrich, Spiera, Robert F, St.Clair, E William, Stone, John H, Plenge, Robert M, Siminovitch, Katherine A, Merkel, Peter A, and Monach, Paul A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Clinical Sciences, Arthritis, Digestive Diseases, Autoimmune Disease, Clinical Research, Prevention, Lupus, Human Genome, Rheumatoid Arthritis, Inflammatory Bowel Disease, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Adolescent, Adult, Aged, Aged, 80 and over, Arthritis, Rheumatoid, Female, Genetic Loci, Genetic Predisposition to Disease, Genotype, Granulomatosis with Polyangiitis, Humans, Male, Middle Aged, Polymorphism, Genetic, Risk Factors, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveTo examine the association of previously identified autoimmune disease susceptibility loci with granulomatosis with polyangiitis (Wegener's) (GPA), and to determine whether the genetic susceptibility profiles of other autoimmune diseases are associated with those of GPA.MethodsGenetic data from 2 cohorts were meta-analyzed. Genotypes for 168 previously identified single-nucleotide polymorphisms (SNPs) associated with susceptibility to different autoimmune diseases were ascertained in a total of 880 patients with GPA and 1,969 control subjects of European descent. Single-marker associations were identified using additive logistic regression models. Associations of multiple SNPs with GPA were assessed using genetic risk scores based on susceptibility loci for Crohn's disease, type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis (RA), celiac disease, and ulcerative colitis. Adjustment for population substructure was performed in all analyses, using ancestry-informative markers and principal components analysis.ResultsGenetic polymorphisms in CTLA4 were significantly associated with GPA in the single-marker meta-analysis (odds ratio [OR] 0.79, 95% confidence interval [95% CI] 0.70-0.89, P = 9.8 × 10(-5) ). The genetic risk score for RA susceptibility markers was significantly associated with GPA (OR 1.05 per 1-unit increase in genetic risk score, 95% CI 1.02-1.08, P = 5.1 × 10(-5) ).ConclusionRA and GPA may arise from a similar genetic predisposition. Aside from CTLA4, other loci previously found to be associated with common autoimmune diseases were not statistically significantly associated with GPA in this study.

Published
2012

13. Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis.

Author

Mkhikian, Haik, Grigorian, Ani, Li, Carey F, Chen, Hung-Lin, Newton, Barbara, Zhou, Raymond W, Beeton, Christine, Torossian, Sevan, Tatarian, Gevork Grikor, Lee, Sung-Uk, Lau, Ken, Walker, Erin, Siminovitch, Katherine A, Chandy, K George, Yu, Zhaoxia, Dennis, James W, and Demetriou, Michael

Subjects
Animals, Antigens, CD: genetics, CTLA-4 Antigen, Case-Control Studies, Cholecalciferol: metabolism, Cohort Studies, Down-Regulation, Female, Genetic Variation, Glycosylation, Haplotypes, Humans, Male, Mice, Mice, Inbred Strains, Multiple Sclerosis: genetics, metabolism, N-Acetylglucosaminyltransferases: genetics, metabolism, Receptors, Interleukin-2: genetics, Receptors, Interleukin-7: genetics, Risk Factors, Signal Transduction, Sunlight
Abstract

How environmental factors combine with genetic risk at the molecular level to promote complex trait diseases such as multiple sclerosis (MS) is largely unknown. In mice, N-glycan branching by the Golgi enzymes Mgat1 and/or Mgat5 prevents T cell hyperactivity, cytotoxic T-lymphocyte antigen 4 (CTLA-4) endocytosis, spontaneous inflammatory demyelination and neurodegeneration, the latter pathologies characteristic of MS. Here we show that MS risk modulators converge to alter N-glycosylation and/or CTLA-4 surface retention conditional on metabolism and vitamin D(3), including genetic variants in interleukin-7 receptor-α (IL7RA*C), interleukin-2 receptor-α (IL2RA*T), MGAT1 (IV(A)V(T-T)) and CTLA-4 (Thr17Ala). Downregulation of Mgat1 by IL7RA*C and IL2RA*T is opposed by MGAT1 (IV(A)V(T-T)) and vitamin D(3), optimizing branching and mitigating MS risk when combined with enhanced CTLA-4 N-glycosylation by CTLA-4 Thr17. Our data suggest a molecular mechanism in MS whereby multiple environmental and genetic inputs lead to dysregulation of a final common pathway, namely N-glycosylation.

Published
2011

15. REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis

Author

Gregersen, Peter K, Amos, Chistopher I, Lee, Annette T, Lu, Yue, Remmers, Elaine F, Kastner, Daniel L, Seldin, Michael F, Criswell, Lindsey A, Plenge, Robert M, Holers, V Michael, Mikuls, Ted R, Sokka, Tuulikki, Moreland, Larry W, Bridges, S Louis, Xie, Gang, Begovich, Ann B, and Siminovitch, Katherine A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Clinical Research, Rheumatoid Arthritis, Autoimmune Disease, Arthritis, Inflammatory and immune system, Arthritis, Rheumatoid, Genes, rel, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

We conducted a genome-wide association study of rheumatoid arthritis in 2,418 cases and 4,504 controls from North America and identified an association at the REL locus, encoding c-Rel, on chromosome 2p13 (rs13031237, P = 6.01 x 10(-10)). Replication in independent case-control datasets comprising 2,604 cases and 2,882 controls confirmed this association, yielding an allelic OR = 1.25 (P = 3.08 x 10(-14)) for marker rs13031237 and an allelic OR = 1.21 (P = 2.60 x 10(-11)) for marker rs13017599 in the combined dataset. The combined dataset also provides definitive support for associations at both CTLA4 (rs231735; OR = 0.85; P = 6.25 x 10(-9)) and BLK (rs2736340; OR = 1.19; P = 5.69 x 10(-9)). c-Rel is an NF-kappaB family member with distinct functional properties in hematopoietic cells, and its association with rheumatoid arthritis suggests disease pathways that involve other recently identified rheumatoid arthritis susceptibility genes including CD40, TRAF1, TNFAIP3 and PRKCQ.

Published
2009

16. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

Author

Gregersen, Peter K, Amos, Chistopher I, Lee, Annette T, Lu, Yue, Remmers, Elaine F, Kastner, Daniel L, Seldin, Michael F, Criswell, Lindsey A, Plenge, Robert M, Holers, V Michael, Mikuls, Ted R, Sokka, Tuulikki, Moreland, Larry W, Bridges, S Louis, Xie, Gang, Begovich, Ann B, and Siminovitch, Katherine A

Subjects
Humans, Arthritis, Rheumatoid, Polymorphism, Single Nucleotide, Genes, rel, Genome-Wide Association Study, Arthritis, Rheumatoid, Polymorphism, Single Nucleotide, Genes, rel, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

We conducted a genome-wide association study of rheumatoid arthritis in 2,418 cases and 4,504 controls from North America and identified an association at the REL locus, encoding c-Rel, on chromosome 2p13 (rs13031237, P = 6.01 x 10(-10)). Replication in independent case-control datasets comprising 2,604 cases and 2,882 controls confirmed this association, yielding an allelic OR = 1.25 (P = 3.08 x 10(-14)) for marker rs13031237 and an allelic OR = 1.21 (P = 2.60 x 10(-11)) for marker rs13017599 in the combined dataset. The combined dataset also provides definitive support for associations at both CTLA4 (rs231735; OR = 0.85; P = 6.25 x 10(-9)) and BLK (rs2736340; OR = 1.19; P = 5.69 x 10(-9)). c-Rel is an NF-kappaB family member with distinct functional properties in hematopoietic cells, and its association with rheumatoid arthritis suggests disease pathways that involve other recently identified rheumatoid arthritis susceptibility genes including CD40, TRAF1, TNFAIP3 and PRKCQ.

Published
2009

17. Corrigendum to: “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs” [J Hepatol 75 (2021) 572-581]

Author

Cordell, Heather J., primary, Fryett, James J., additional, Ueno, Kazuko, additional, Darlay, Rebecca, additional, Aiba, Yoshihiro, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Khor, Seik-Soon, additional, Gervais, Olivier, additional, Kawai, Yosuke, additional, Nagasaki, Masao, additional, Tokunaga, Katsushi, additional, Tang, Ruqi, additional, Shi, Yongyong, additional, Li, Zhiqiang, additional, Juran, Brian D., additional, Atkinson, Elizabeth J., additional, Gerussi, Alessio, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Cheung, Angela, additional, de Andrade, Mariza, additional, Baras, Aris, additional, Horowitz, Julie, additional, Ferreira, Manuel A.R., additional, Sun, Dylan, additional, Jones, David E., additional, Flack, Steven, additional, Spicer, Ann, additional, Mulcahy, Victoria L., additional, Byan, Jinyoung, additional, Han, Younghun, additional, Sandford, Richard N., additional, Lazaridis, Konstantinos N., additional, Amos, Christopher I., additional, Hirschfield, Gideon M., additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Siminovitch, Katherine A., additional, Ma, Xiong, additional, Nakamura, Minoru, additional, and Mells, George F., additional

Published
2023
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19. Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

Author

Xiao, Brenda, primary, Velez Edwards, Digna R., additional, Lucas, Anastasia, additional, Drivas, Theodore, additional, Gray, Kathryn, additional, Keating, Brendan, additional, Weng, Chunhua, additional, Jarvik, Gail P., additional, Hakonarson, Hakon, additional, Kottyan, Leah, additional, Elhadad, Noemie, additional, Wei, Wei‐Qi, additional, Luo, Yuan, additional, Kim, Dokyoon, additional, Ritchie, Marylyn, additional, Verma, Shefali Setia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Karalis, Katia, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Siminovitch, Katherine, additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Ferreira, Manuel Allen Revez, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Praveen, Kavita, additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Tzoneva, Gannie, additional, Rodriguez‐Flores, Juan, additional, Chim, Shek Man, additional, Donato, Valerio, additional, Fernandez, Daniel, additional, Gatta, Giusy Della, additional, Di Gioia, Alessandro, additional, Howell, Kristen, additional, Khrimian, Lori, additional, Kim, Minhee, additional, Martinez, Hector, additional, Miloscio, Lawrence, additional, Nunez, Sheilyn, additional, Pavlopoulos, Elias, additional, Persaud, Trikaldarshi, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, and Rana, Nadia, additional

Published
2023
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25. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Author

Jurgens, Sean J., Choi, Seung Hoan, Morrill, Valerie N., Chaffin, Mark, Pirruccello, James P., Halford, Jennifer L., Weng, Lu-Chen, Nauffal, Victor, Roselli, Carolina, Hall, Amelia W., Oetjens, Matthew T., Lagerman, Braxton, vanMaanen, David P., Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Beechert, Christina, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, de, Tanima, Deubler, Andrew, Economides, Aris, Eom, Gisu, Ferreira, Manuel A. R., Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Karalis, Katia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lattari, Michael, Li, Dadong, Lopez, Alexander, Lotta, Luca A., Manoochehri, Kia, Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mona, Nielsen, Jonas, O’Keeffe, Sean, Orelus, Max, Overton, John D., Padilla, Maria Sotiropoulos, Panea, Razvan, Polanco, Tommy, Pradhan, Manasi, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Schleicher, Thomas D., Shuldiner, Alan, Siminovitch, Katherine, Staples, Jeffrey C., Ulloa, Ricardo H., Verweij, Niek, Widom, Louis, Wolf, Sarah E., Aragam, Krishna G., Lunetta, Kathryn L., Haggerty, Christopher M., Lubitz, Steven A., Ellinor, Patrick T., Cardiology, Graduate School, and ACS - Amsterdam Cardiovascular Sciences

Subjects
Genetics
Abstract

Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete. Here, we analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participants with whole-exome sequencing. We identified 57 gene-based associations, with broad replication of novel signals in Geisinger MyCode. There was a striking risk associated with mutations in known Mendelian disease genes, including MYBPC3, LDLR, GCK, PKD1 and TTN. Many genes showed independent convergence of rare and common variant evidence, including an association between GIGYF1 and type 2 diabetes. We identified several large effect associations for height and 18 unique genes associated with blood lipid or glucose levels. Finally, we found that between 1.0% and 2.4% of participants carried rare potentially pathogenic variants for cardiometabolic disorders. These findings may facilitate studies aimed at therapeutics and screening of these common disorders.

Published
2022

27. Involvement of the Lymphocyte Cytoskeleton in Antigen-Receptor Signaling

Author

da Cruz, L. A. G., Penfold, S., Zhang, J., Somani, A.-K., Shi, F., McGavin, M. K. H., Song, X., Siminovitch, Katherine A., Compans, R. W., editor, Cooper, M., editor, Hogle, J. M., editor, Ito, Y., editor, Koprowski, H., editor, Melchers, F., editor, Oldstone, M., editor, Olsnes, S., editor, Potter, M., editor, Saedler, H., editor, Vogt, P. K., editor, Wagner, H., editor, Justement, Louis B., editor, and Siminovitch, Katherine A., editor

Published
2000
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30. Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

Author

Cordell, Heather J., primary, Fryett, James J., additional, Ueno, Kazuko, additional, Darlay, Rebecca, additional, Aiba, Yoshihiro, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Khor, Seik-Soon, additional, Gervais, Olivier, additional, Kawai, Yosuke, additional, Nagasaki, Masao, additional, Tokunaga, Katsushi, additional, Tang, Ruqi, additional, Shi, Yongyong, additional, Li, Zhiqiang, additional, Juran, Brian D., additional, Atkinson, Elizabeth J., additional, Gerussi, Alessio, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Cheung, Angela, additional, de Andrade, Mariza, additional, Baras, Aris, additional, Horowitz, Julie, additional, Ferreira, Manuel A.R., additional, Sun, Dylan, additional, Jones, David E., additional, Flack, Steven, additional, Spicer, Ann, additional, Mulcahy, Victoria L., additional, Byun, Jinyoung, additional, Han, Younghun, additional, Sandford, Richard N., additional, Lazaridis, Konstantinos N., additional, Amos, Christopher I., additional, Hirschfield, Gideon M., additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Siminovitch, Katherine A., additional, Ma, Xiong, additional, Nakamura, Minoru, additional, Mells, George F., additional, Mason, Andrew, additional, Vincent, Catherine, additional, Xie, Gang, additional, Zhang, Jinyi, additional, Affronti, Andrea, additional, Almasio, Piero L., additional, Alvaro, Domenico, additional, Andreone, Pietro, additional, Andriulli, Angelo, additional, Azzaroli, Francesco, additional, Battezzati, Pier Maria, additional, Benedetti, Antonio, additional, Bragazzi, MariaConsiglia, additional, Brunetto, Maurizia, additional, Bruno, Savino, additional, Calvaruso, Vincenza, additional, Cardinale, Vincenzo, additional, Casella, Giovanni, additional, Cazzagon, Nora, additional, Ciaccio, Antonio, additional, Coco, Barbara, additional, Colli, Agostino, additional, Colloredo, Guido, additional, Colombo, Massimo, additional, Colombo, Silvia, additional, Cristoferi, Laura, additional, Cursaro, Carmela, additional, Crocè, Lory Saveria, additional, Crosignani, Andrea, additional, D’Amato, Daphne, additional, Donato, Francesca, additional, Elia, Gianfranco, additional, Fabris, Luca, additional, Fagiuoli, Stefano, additional, Ferrari, Carlo, additional, Floreani, Annarosa, additional, Galli, Andrea, additional, Giannini, Edoardo, additional, Grattagliano, Ignazio, additional, Lampertico, Pietro, additional, Lleo, Ana, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Marra, Fabio, additional, Marzioni, Marco, additional, Massironi, Sara, additional, Mattalia, Alberto, additional, Miele, Luca, additional, Milani, Chiara, additional, Morini, Lorenzo, additional, Morisco, Filomena, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Niro, Grazia A., additional, O’Donnell, Sarah, additional, Picciotto, Antonio, additional, Portincasa, Piero, additional, Rigamonti, Cristina, additional, Ronca, Vincenzo, additional, Rosina, Floriano, additional, Spinzi, Giancarlo, additional, Strazzabosco, Mario, additional, Tarocchi, Mirko, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Valenti, Luca, additional, Vinci, Maria, additional, Zuin, Massimo, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Migita, Kiyoshi, additional, Ohira, Hiromasa, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Tanaka, Atsushu, additional, Takikawa, Hajime, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Kawata, Kazuhito, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, H, Egawa, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, Kokudo, Norihiro, additional, Chalasani, Naga, additional, Luketic, Vel, additional, Odin, Joseph, additional, Chopra, Kapil, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mitnaul, Lyndon J., additional, Sturgess, Richard, additional, Healey, Christopher, additional, Yeoman, Andrew, additional, Gunasekera, Anton VJ., additional, Kooner, Paul, additional, Kapur, Kapil, additional, Sathyanarayana, V., additional, Kallis, Yiannis, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Rooney, Paul, additional, Ramanaden, David, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Gasem, Jaber, additional, Shorrock, Christopher, additional, Bhalme, Mahesh, additional, Southern, Paul, additional, Tibble, Jeremy A., additional, Gorard, David A., additional, Jones, Susan, additional, Mells, George, additional, Mulcahy, Victoria, additional, Srivastava, Brijesh, additional, Foxton, Matthew R., additional, Collins, Carole E., additional, Elphick, David, additional, Karmo, Mazn, additional, Porras-Perez, Francisco, additional, Mendall, Michael, additional, Yapp, Tom, additional, Patel, Minesh, additional, Ede, Roland, additional, Sayer, Joanne, additional, Jupp, James, additional, Fisher, Neil, additional, Carter, Martyn J., additional, Koss, Konrad, additional, Shah, Jayshri, additional, Piotrowicz, Andrzej, additional, Scott, Glyn, additional, Grimley, Charles, additional, Gooding, Ian R., additional, Williams, Simon, additional, Tidbury, Judith, additional, Lim, Guan, additional, Cheent, Kuldeep, additional, Levi, Sass, additional, Mansour, Dina, additional, Beckley, Matilda, additional, Hollywood, Coral, additional, Wong, Terry, additional, Marley, Richard, additional, Ramage, John, additional, Gordon, Harriet M., additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Bob Grover, Vijay Paul, additional, Shidrawi, Ray G., additional, Abouda, George, additional, Corless, L., additional, Narain, Mark, additional, Rees, Ian, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Wilkins, Joy, additional, Grellier, Leonie, additional, Banim, Paul, additional, Das, Debasish, additional, Heneghan, Michael A., additional, Curtis, Howard, additional, Matthews, Helen C., additional, Mohammed, Faiyaz, additional, Aldersley, Mark, additional, Srirajaskanthan, Raj, additional, Walker, Giles, additional, McNair, Alistair, additional, Sharif, Amar, additional, Sen, Sambit, additional, Bird, George, additional, Prince, Martin I., additional, Prasad, Geeta, additional, Kitchen, Paul, additional, Barnardo, Adrian, additional, Oza, Chirag, additional, Sivaramakrishnan, Nurani N., additional, Gupta, Prakash, additional, Shah, Amir, additional, Evans, Chris DJ., additional, Saha, Subrata, additional, Pollock, Katharine, additional, Bramley, Peter, additional, Mukhopadhya, Ashis, additional, Barclay, Stephen T., additional, McDonald, Natasha, additional, Bathgate, Andrew J., additional, Palmer, Kelvin, additional, Dillon, John F., additional, Rushbrook, Simon M., additional, Przemioslo, Robert, additional, McDonald, Chris, additional, Millar, Andrew, additional, Tai, Cheh, additional, Mitchell, Stephen, additional, Metcalf, Jane, additional, Shaukat, Syed, additional, Ninkovic, Mary, additional, Shmueli, Udi, additional, Davis, Andrew, additional, Naqvi, Asifabbas, additional, Lee, Tom JW., additional, Ryder, Stephen, additional, Collier, Jane, additional, Klass, Howard, additional, Cramp, Matthew E., additional, Sharer, Nichols, additional, Aspinall, Richard, additional, Ghosh, Deb, additional, Douds, Andrew C., additional, Booth, Jonathan, additional, Williams, Earl, additional, Hussaini, Hyder, additional, Christie, John, additional, Mann, Steven, additional, Thorburn, Douglas, additional, Marshall, Aileen, additional, Patanwala, Imran, additional, Ala, Aftab, additional, Maltby, Julia, additional, Matthew, Ray, additional, Corbett, Chris, additional, Vyas, Sam, additional, Singhal, Saket, additional, Gleeson, Dermot, additional, Misra, Sharat, additional, Butterworth, Jeff, additional, George, Keith, additional, Harding, Tim, additional, Douglass, Andrew, additional, Mitchison, Harriet, additional, Panter, Simon, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Roberts, Michael, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mahmood, Zahid, additional, Cowan, Matthew, additional, Das, Debashis, additional, Ch'ng, Chin Lye, additional, Rahman, Mesbah, additional, Whatley, Gregory C.A., additional, Wesley, Emma, additional, Mandal, Aditya, additional, Jain, Sanjiv, additional, Pereira, Stephen P., additional, Wright, Mark, additional, Trivedi, Palak, additional, Gordon, Fiona H., additional, Unitt, Esther, additional, Palejwala, Altaf, additional, Austin, Andrew, additional, Vemala, Vishwaraj, additional, Grant, Allister, additional, Higham, Andrew D., additional, Brind, Alison, additional, Mathew, Ray, additional, Cox, Mark, additional, Ramakrishnan, Subramaniam, additional, King, Alistair, additional, Whalley, Simon, additional, Fraser, Jocelyn, additional, Thomson, S.J., additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Kia, Richard, additional, Gee, Ian, additional, Keld, Richard, additional, Ransford, Rupert, additional, Gotto, James, additional, and Millson, Charles, additional

Published
2021
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33. Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study

Author

Manderstedt, Eric, primary, Halldén, Christer, additional, Lind-Halldén, Christina, additional, Elf, Johan, additional, Svensson, Peter J., additional, Engström, Gunnar, additional, Melander, Olle, additional, Baras, Aris, additional, Lotta, Luca A, additional, Zöller, Bengt, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Karalis, Katia, additional, Siminovitch, Katherine, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Sotiropoulos Padilla, Maria, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Verweij, Niek, additional, Nielsen, Jonas, additional, De, Tanima, additional, Jones, Marcus B., additional, Mighty, Jason, additional, LeBlanc, Michelle G., additional, and Mitnaul, Lyndon J., additional

Published
2021
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34. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Author

Cordell, Heather J., primary, Fryett, James J., additional, Ueno, Kazuko, additional, Darlay, Rebecca, additional, Aiba, Yoshihiro, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Khor, Seik-Soon, additional, Gervais, Olivier, additional, Kawai, Yosuke, additional, Nagasaki, Masao, additional, Tokunaga, Katsushi, additional, Tang, Ruqi, additional, Shi, Yongyong, additional, Li, Zhiqiang, additional, Juran, Brian D., additional, Atkinson, Elizabeth J., additional, Gerussi, Alessio, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Cheung, Angela, additional, de Andrade, Mariza, additional, Baras, Aris, additional, Horowitz, Julie, additional, Ferreira, Manuel A.R., additional, Sun, Dylan, additional, Jones, David E., additional, Flack, Steven, additional, Spicer, Ann, additional, Mulcahy, Victoria L., additional, Byan, Jinyoung, additional, Han, Younghun, additional, Sandford, Richard N., additional, Lazaridis, Konstantinos N., additional, Amos, Christopher I., additional, Hirschfield, Gideon M., additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Siminovitch, Katherine A., additional, Ma, Xiong, additional, Nakamura, Minoru, additional, Mells, George F., additional, Mason, Andrew, additional, Vincent, Catherine, additional, Xie, Gang, additional, Zhang, Jinyi, additional, Affronti, Andrea, additional, Almasio, Piero L., additional, Alvaro, Domenico, additional, Andreone, Pietro, additional, Andriulli, Angelo, additional, Azzaroli, Francesco, additional, Battezzati, Pier Maria, additional, Benedetti, Antonio, additional, Bragazzi, MariaConsiglia, additional, Brunetto, Maurizia, additional, Bruno, Savino, additional, Calvaruso, Vincenza, additional, Cardinale, Vincenzo, additional, Casella, Giovanni, additional, Cazzagon, Nora, additional, Ciaccio, Antonio, additional, Coco, Barbara, additional, Colli, Agostino, additional, Colloredo, Guido, additional, Colombo, Massimo, additional, Colombo, Silvia, additional, Cristoferi, Laura, additional, Cursaro, Carmela, additional, Crocè, Lory Saveria, additional, Crosignani, Andrea, additional, D’Amato, Daphne, additional, Donato, Francesca, additional, Elia, Gianfranco, additional, Fabris, Luca, additional, Fagiuoli, Stefano, additional, Ferrari, Carlo, additional, Floreani, Annarosa, additional, Galli, Andrea, additional, Giannini, Edoardo, additional, Grattagliano, Ignazio, additional, Lampertico, Pietro, additional, Lleo, Ana, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Marra, Fabio, additional, Marzioni, Marco, additional, Massironi, Sara, additional, Mattalia, Alberto, additional, Miele, Luca, additional, Milani, Chiara, additional, Morini, Lorenzo, additional, Morisco, Filomena, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Niro, Grazia A., additional, O’Donnell, Sarah, additional, Picciotto, Antonio, additional, Portincasa, Piero, additional, Rigamonti, Cristina, additional, Ronca, Vincenzo, additional, Rosina, Floriano, additional, Spinzi, Giancarlo, additional, Strazzabosco, Mario, additional, Tarocchi, Mirko, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Valenti, Luca, additional, Vinci, Maria, additional, Zuin, Massimo, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Migita, Kiyoshi, additional, Ohira, Hiromasa, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Tanaka, Atsushu, additional, Takikawa, Hajime, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Kawata, Kazuhito, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, H, Egawa, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, Kokudo, Norihiro, additional, Chalasani, Naga, additional, Luketic, Vel, additional, Odin, Joseph, additional, Chopra, Kapil, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mitnaul, Lyndon J., additional, Sturgess, Richard, additional, Healey, Christopher, additional, Yeoman, Andrew, additional, Gunasekera, Anton VJ., additional, Kooner, Paul, additional, Kapur, Kapil, additional, Sathyanarayana, V., additional, Kallis, Yiannis, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Rooney, Paul, additional, Ramanaden, David, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Gasem, Jaber, additional, Shorrock, Christopher, additional, Bhalme, Mahesh, additional, Southern, Paul, additional, Tibble, Jeremy A., additional, Gorard, David A., additional, Jones, Susan, additional, Mells, George, additional, Mulcahy, Victoria, additional, Srivastava, Brijesh, additional, Foxton, Matthew R., additional, Collins, Carole E., additional, Elphick, David, additional, Karmo, Mazn, additional, Porras-Perez, Francisco, additional, Mendall, Michael, additional, Yapp, Tom, additional, Patel, Minesh, additional, Ede, Roland, additional, Sayer, Joanne, additional, Jupp, James, additional, Fisher, Neil, additional, Carter, Martyn J., additional, Koss, Konrad, additional, Shah, Jayshri, additional, Piotrowicz, Andrzej, additional, Scott, Glyn, additional, Grimley, Charles, additional, Gooding, Ian R., additional, Williams, Simon, additional, Tidbury, Judith, additional, Lim, Guan, additional, Cheent, Kuldeep, additional, Levi, Sass, additional, Mansour, Dina, additional, Beckley, Matilda, additional, Hollywood, Coral, additional, Wong, Terry, additional, Marley, Richard, additional, Ramage, John, additional, Gordon, Harriet M., additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Bob Grover, Vijay Paul, additional, Shidrawi, Ray G., additional, Abouda, George, additional, Corless, L., additional, Narain, Mark, additional, Rees, Ian, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Wilkins, Joy, additional, Grellier, Leonie, additional, Banim, Paul, additional, Das, Debasish, additional, Heneghan, Michael A., additional, Curtis, Howard, additional, Matthews, Helen C., additional, Mohammed, Faiyaz, additional, Aldersley, Mark, additional, Srirajaskanthan, Raj, additional, Walker, Giles, additional, McNair, Alistair, additional, Sharif, Amar, additional, Sen, Sambit, additional, Bird, George, additional, Prince, Martin I., additional, Prasad, Geeta, additional, Kitchen, Paul, additional, Barnardo, Adrian, additional, Oza, Chirag, additional, Sivaramakrishnan, Nurani N., additional, Gupta, Prakash, additional, Shah, Amir, additional, Evans, Chris DJ., additional, Saha, Subrata, additional, Pollock, Katharine, additional, Bramley, Peter, additional, Mukhopadhya, Ashis, additional, Barclay, Stephen T., additional, McDonald, Natasha, additional, Bathgate, Andrew J., additional, Palmer, Kelvin, additional, Dillon, John F., additional, Rushbrook, Simon M., additional, Przemioslo, Robert, additional, McDonald, Chris, additional, Millar, Andrew, additional, Tai, Cheh, additional, Mitchell, Stephen, additional, Metcalf, Jane, additional, Shaukat, Syed, additional, Ninkovic, Mary, additional, Shmueli, Udi, additional, Davis, Andrew, additional, Naqvi, Asifabbas, additional, Lee, Tom JW., additional, Ryder, Stephen, additional, Collier, Jane, additional, Klass, Howard, additional, Cramp, Matthew E., additional, Sharer, Nichols, additional, Aspinall, Richard, additional, Ghosh, Deb, additional, Douds, Andrew C., additional, Booth, Jonathan, additional, Williams, Earl, additional, Hussaini, Hyder, additional, Christie, John, additional, Mann, Steven, additional, Thorburn, Douglas, additional, Marshall, Aileen, additional, Patanwala, Imran, additional, Ala, Aftab, additional, Maltby, Julia, additional, Matthew, Ray, additional, Corbett, Chris, additional, Vyas, Sam, additional, Singhal, Saket, additional, Gleeson, Dermot, additional, Misra, Sharat, additional, Butterworth, Jeff, additional, George, Keith, additional, Harding, Tim, additional, Douglass, Andrew, additional, Mitchison, Harriet, additional, Panter, Simon, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Roberts, Michael, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mahmood, Zahid, additional, Cowan, Matthew, additional, Das, Debashis, additional, Ch’ng, Chin Lye, additional, Rahman, Mesbah, additional, Whatley, Gregory C.A., additional, Wesley, Emma, additional, Mandal, Aditya, additional, Jain, Sanjiv, additional, Pereira, Stephen P., additional, Wright, Mark, additional, Trivedi, Palak, additional, Gordon, Fiona H., additional, Unitt, Esther, additional, Palejwala, Altaf, additional, Austin, Andrew, additional, Vemala, Vishwaraj, additional, Grant, Allister, additional, Higham, Andrew D., additional, Brind, Alison, additional, Mathew, Ray, additional, Cox, Mark, additional, Ramakrishnan, Subramaniam, additional, King, Alistair, additional, Whalley, Simon, additional, Fraser, Jocelyn, additional, Thomson, S.J., additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Kia, Richard, additional, Gee, Ian, additional, Keld, Richard, additional, Ransford, Rupert, additional, Gotto, James, additional, and Millson, Charles, additional

Published
2021
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35. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Author

Boer, Cindy G., primary, Hatzikotoulas, Konstantinos, additional, Southam, Lorraine, additional, Stefánsdóttir, Lilja, additional, Zhang, Yanfei, additional, Coutinho de Almeida, Rodrigo, additional, Wu, Tian T., additional, Zheng, Jie, additional, Hartley, April, additional, Teder-Laving, Maris, additional, Skogholt, Anne Heidi, additional, Terao, Chikashi, additional, Zengini, Eleni, additional, Alexiadis, George, additional, Barysenka, Andrei, additional, Bjornsdottir, Gyda, additional, Gabrielsen, Maiken E., additional, Gilly, Arthur, additional, Ingvarsson, Thorvaldur, additional, Johnsen, Marianne B., additional, Jonsson, Helgi, additional, Kloppenburg, Margreet, additional, Luetge, Almut, additional, Lund, Sigrun H., additional, Mägi, Reedik, additional, Mangino, Massimo, additional, Nelissen, Rob R.G.H.H., additional, Shivakumar, Manu, additional, Steinberg, Julia, additional, Takuwa, Hiroshi, additional, Thomas, Laurent F., additional, Tuerlings, Margo, additional, Babis, George C., additional, Cheung, Jason Pui Yin, additional, Kang, Jae Hee, additional, Kraft, Peter, additional, Lietman, Steven A., additional, Samartzis, Dino, additional, Slagboom, P. Eline, additional, Stefansson, Kari, additional, Thorsteinsdottir, Unnur, additional, Tobias, Jonathan H., additional, Uitterlinden, André G., additional, Winsvold, Bendik, additional, Zwart, John-Anker, additional, Davey Smith, George, additional, Sham, Pak Chung, additional, Thorleifsson, Gudmar, additional, Gaunt, Tom R., additional, Morris, Andrew P., additional, Valdes, Ana M., additional, Tsezou, Aspasia, additional, Cheah, Kathryn S.E., additional, Ikegawa, Shiro, additional, Hveem, Kristian, additional, Esko, Tõnu, additional, Wilkinson, J. Mark, additional, Meulenbelt, Ingrid, additional, Lee, Ming Ta Michael, additional, van Meurs, Joyce B.J., additional, Styrkársdóttir, Unnur, additional, Zeggini, Eleftheria, additional, Loughlin, John, additional, Arden, Nigel, additional, Birrell, Fraser, additional, Carr, Andrew, additional, Deloukas, Panos, additional, Doherty, Michael, additional, McCaskie, Andrew W., additional, Ollier, William E.R., additional, Rai, Ashok, additional, Ralston, Stuart H., additional, Spector, Tim D., additional, Wallis, Gillian A., additional, Martinsen, Amy E., additional, Willer, Cristen, additional, Fors, Egil Andreas, additional, Mundal, Ingunn, additional, Hagen, Knut, additional, Nilsen, Kristian Bernhard, additional, Lie, Marie Udnesseter, additional, Børte, Sigrid, additional, Brumpton, Ben, additional, Nielsen, Jonas Bille, additional, Fritsche, Lars G., additional, Zhou, Wei, additional, Heuch, Ingrid, additional, Storheim, Kjersti, additional, Tyrpenou, Evangelos, additional, Koukakis, Athanasios, additional, Chytas, Dimitrios, additional, Evangelopoulos, Dimitrios Stergios, additional, Efstathios, Chronopoulos, additional, Pneumaticos, Spiros, additional, Nikolaou, Vasileios S., additional, Malizos, Konstantinos, additional, Anastasopoulou, Lydia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Karalis, Katia, additional, Siminovitch, Katherine, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Boutkov, Boris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Li, Dadong, additional, Sharma, Deepika, additional, Banerjee, Ilanjana, additional, Bovijn, Jonas, additional, Locke, Adam, additional, Verweij, Niek, additional, Haas, Mary, additional, Hindy, George, additional, De, Tanima, additional, Akbari, Parsa, additional, Sosina, Olukayode, additional, Ferreira, Manuel A.R., additional, Jones, Marcus B., additional, Mighty, Jason, additional, LeBlanc, Michelle G., additional, and Mitnaul, Lyndon J., additional

Published
2021
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37. X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögrenʼs Syndrome

Author

Liu, Ke, Kurien, Biji T., Zimmerman, Sarah L., Kaufman, Kenneth M., Taft, Diana H., Kottyan, Leah C., Lazaro, Sara, Weaver, Carrie A., Ice, John A., Adler, Adam J., Chodosh, James, Radfar, Lida, Rasmussen, Astrid, Stone, Donald U., Lewis, David M., Li, Shibo, Koelsch, Kristi A., Igoe, Ann, Talsania, Mitali, Kumar, Jay, Maier-Moore, Jacen S., Harris, Valerie M., Gopalakrishnan, Rajaram, Jonsson, Roland, Lessard, James A., Lu, Xianglan, Gottenberg, Jacques-Eric, Anaya, Juan-Manuel, Cunninghame-Graham, Deborah S., Huang, Andrew J. W., Brennan, Michael T., Hughes, Pamela, Illei, Gabor G., Miceli-Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Xie, Gang, Ng, Wan-Fai, Nordmark, Gunnel, Eriksson, Per, Omdal, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Segal, Barbara M., Vyse, Timothy J., Wahren-Herlenius, Marie, Witte, Torsten, Pons-Estel, Bernardo, Alarcón-Riquelme, Marta E., Guthridge, Joel M., James, Judith A., Lessard, Christopher J., Kelly, Jennifer A., Thompson, Susan D., Gaffney, Patrick M., Montgomery, Courtney G., Edberg, Jeffrey C., Kimberly, Robert P., Alarcón, Graciela S., Langefeld, Carl L., Gilkeson, Gary S., Kamen, Diane L., Tsao, Betty P., McCune, Joseph W., Salmon, Jane E., Merrill, Joan T., Weisman, Michael H., Wallace, Daniel J., Utset, Tammy O., Bottinger, Erwin P., Amos, Christopher I., Siminovitch, Katherine A., Mariette, Xavier, Sivils, Kathy L., Harley, John B., and Scofield, Hal R.

Published
2016
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39. X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Author

Asselta, Rosanna, primary, Paraboschi, Elvezia M., additional, Gerussi, Alessio, additional, Cordell, Heather J., additional, Mells, George F., additional, Sandford, Richard N., additional, Jones, David E., additional, Nakamura, Minoru, additional, Ueno, Kazuko, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Tokunaga, Katsushi, additional, Nagasaki, Masao, additional, Tanaka, Atsushi, additional, Tang, Ruqi, additional, Li, Zhiqiang, additional, Shi, Yongyong, additional, Liu, Xiangdong, additional, Xiong, Ma, additional, Hirschfield, Gideon, additional, Siminovitch, Katherine A., additional, Carbone, Marco, additional, Cardamone, Giulia, additional, Duga, Stefano, additional, Gershwin, M. Eric, additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Walker, Erin, additional, Xie, Gang, additional, Mason, Andy, additional, Myers, Robert, additional, Peltekian, Kevork, additional, Ghent, Cameron, additional, Atkinson, Elizabeth, additional, Juran, Bruce, additional, Lazaridis, Kostas, additional, Lu, Yue, additional, Gu, Xiangjun, additional, Jing, Kaiyan, additional, Amos, Chris, additional, Affronti, Andrea, additional, Brunetto, Maurizia, additional, Coco, Barbara, additional, Spinzi, Giancarlo, additional, Elia, Gianfranco, additional, Ferrari, Carlo, additional, Lleo, Ana, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Portincasa, Piero, additional, Colli, Agostino, additional, Bruno, Savino, additional, Colloredo, Guido, additional, Azzaroli, Francesco, additional, Andreone, Pietro, additional, Bragazzi, MariaConsiglia, additional, Alvaro, Domenico, additional, Cardinale, Vincenzo, additional, Cazzagon, Nora, additional, Rigamonti, Cristina, additional, Floreani, Annarosa, additional, Rosina, Floriano, additional, Ciaccio, Antonio, additional, Cristoferi, Laura, additional, D’Amato, Daphne, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Massironi, Sara, additional, Milani, Chiara, additional, O’Donnell, Sarah E., additional, Ronca, Vincenzo, additional, Barisani, Donatella, additional, Lampertico, Pietro, additional, Donato, Francesca, additional, Fagiuoli, Stefano, additional, Almasio, Piero L., additional, Giannini, Edoardo, additional, Cursaro, Carmela, additional, Colombo, Massimo, additional, Valenti, Luca, additional, Miele, Luca, additional, Andriulli, Angelo, additional, Niro, Grazia A., additional, Grattagliano, Ignazio, additional, Morini, Lorenzo, additional, Casella, Giovanni, additional, Vinci, Maria, additional, Battezzati, Pier Maria, additional, Crosignani, Andrea, additional, Zuin, Massimo, additional, Mattalia, Alberto, additional, Calvaruso, Vincenza, additional, Colombo, Silvia, additional, Benedetti, Antonio, additional, Marzioni, Marco, additional, Galli, Andrea, additional, Marra, Fabio, additional, Tarocchi, Mirko, additional, Picciotto, Antonio, additional, Morisco, Filomena, additional, Fabris, Luca, additional, Crocè, Lory Saveria, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Strazzabosco, Mario, additional, Ch’ng, Chin Lye, additional, Rahman, Mesbah, additional, Yapp, Tom, additional, Sturgess, Richard, additional, Healey, Christopher, additional, Czajkowski, Marek, additional, Gunasekera, Anton, additional, Gyawali, Pranab, additional, Premchand, Purushothaman, additional, Kapur, Kapil, additional, Marley, Richard, additional, Foster, Graham, additional, Watson, Alan, additional, Dias, Aruna, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Ramanaden, David, additional, Gasem, Jaber, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Shorrock, Christopher, additional, Lipscomb, George, additional, Southern, Paul, additional, Tibble, Jeremy, additional, Gorard, David, additional, Palegwala, Altaf, additional, Jones, Susan, additional, Dawwas, Mohamed, additional, Alexander, Graeme, additional, Dolwani, Sunil, additional, Prince, Martin, additional, Foxton, Matthew, additional, Elphick, David, additional, Mitchison, Harriet, additional, Gooding, Ian, additional, Karmo, Mazn, additional, Saksena, Sushma, additional, Mendall, Mike, additional, Patel, Minesh, additional, Ede, Roland, additional, Austin, Andrew, additional, Sayer, Joanna, additional, Hankey, Lorraine, additional, Hovell, Christopher, additional, Fisher, Neil, additional, Carter, Martyn, additional, Koss, Konrad, additional, Piotrowicz, Andrzej, additional, Grimley, Charles, additional, Neal, David, additional, Lim, Guan, additional, Levi, Sass, additional, Ala, Aftab, additional, Broad, Andrea, additional, Saeed, Athar, additional, Wood, Gordon, additional, Brown, Jonathan, additional, Wilkinson, Mark, additional, Gordon, Harriet, additional, Ramage, John, additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Grover, Bob, additional, Shaukat, Syed, additional, Shidrawi, Ray, additional, Abouda, George, additional, Ali, Faiz, additional, Rees, Ian, additional, Salam, Imroz, additional, Narain, Mark, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Williams, Simon, additional, Grellier, Leonie, additional, Banim, Paul, additional, Das, Debasish, additional, Chilton, Andrew, additional, Heneghan, Michael, additional, Curtis, Howard, additional, Gess, Markus, additional, Drake, Ian, additional, Aldersley, Mark, additional, Davies, Mervyn, additional, Jones, Rebecca, additional, McNair, Alastair, additional, Srirajaskanthan, Raj, additional, Pitcher, Maxton, additional, Sen, Sambit, additional, Bird, George, additional, Barnardo, Adrian, additional, Kitchen, Paul, additional, Yoong, Kevin, additional, Chirag, Oza, additional, Sivaramakrishnan, Nurani, additional, MacFaul, George, additional, Jones, David, additional, Shah, Amir, additional, Evans, Chris, additional, Saha, Subrata, additional, Pollock, Katharine, additional, Bramley, Peter, additional, Mukhopadhya, Ashis, additional, Fraser, Andrew, additional, Mills, Peter, additional, Shallcross, Christopher, additional, Campbell, Stewart, additional, Bathgate, Andrew, additional, Shepherd, Alan, additional, Dillon, John, additional, Rushbrook, Simon, additional, Przemioslo, Robert, additional, Macdonald, Christopher, additional, Metcalf, Jane, additional, Shmueli, Udi, additional, Davis, Andrew, additional, Naqvi, Asifabbas, additional, Lee, Tom, additional, Ryder, Stephen D., additional, Collier, Jane, additional, Klass, Howard, additional, Ninkovic, Mary, additional, Cramp, Matthew, additional, Sharer, Nicholas, additional, Aspinall, Richard, additional, Goggin, Patrick, additional, Ghosh, Deb, additional, Douds, Andrew, additional, Hoeroldt, Barbara, additional, Booth, Jonathan, additional, Williams, Earl, additional, Hussaini, Hyder, additional, Stableforth, William, additional, Ayres, Reuben, additional, Thorburn, Douglas, additional, Marshall, Eileen, additional, Burroughs, Andrew, additional, Mann, Steven, additional, Lombard, Martin, additional, Richardson, Paul, additional, Patanwala, Imran, additional, Maltby, Julia, additional, Brookes, Matthew, additional, Mathew, Ray, additional, Vyas, Samir, additional, Singhal, Saket, additional, Gleeson, Dermot, additional, Misra, Sharat, additional, Butterworth, Jeff, additional, George, Keith, additional, Harding, Tim, additional, Douglass, Andrew, additional, Panter, Simon, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mclindon, John, additional, Cowan, Matthew, additional, Whatley, Gregory, additional, Mandal, Aditya, additional, Gupta, Hemant, additional, Sanghi, Pradeep, additional, Jain, Sanjiv, additional, Pereira, Steve, additional, Prasad, Geeta, additional, Watts, Gill, additional, Wright, Mark, additional, Neuberger, James, additional, Gordon, Fiona, additional, Unitt, Esther, additional, Grant, Allister, additional, Delahooke, Toby, additional, Higham, Andrew, additional, Brind, Alison, additional, Cox, Mark, additional, Ramakrishnan, Subramaniam, additional, King, Alistair, additional, Collins, Carole, additional, Whalley, Simon, additional, Li, Andy, additional, Fraser, Jocelyn, additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Singhal, Amit, additional, Gee, Ian, additional, Ang, Yeng, additional, Ransford, Rupert, additional, Gotto, James, additional, Millson, Charles, additional, Bowles, Jane, additional, Thomas, Caradog, additional, Harrison, Melanie, additional, Galaska, Roman, additional, Kendall, Jennie, additional, Whiteman, Jessica, additional, Lawlor, Caroline, additional, Gray, Catherine, additional, Elliott, Keith, additional, Mulvaney-Jones, Caroline, additional, Hobson, Lucie, additional, Van Duyvenvoorde, Greta, additional, Loftus, Alison, additional, Seward, Katie, additional, Penn, Ruth, additional, Maiden, Jane, additional, Damant, Rose, additional, Hails, Janeane, additional, Cloudsdale, Rebecca, additional, Silvestre, Valeria, additional, Glenn, Sue, additional, Dungca, Eleanor, additional, Wheatley, Natalie, additional, Doyle, Helen, additional, Kent, Melanie, additional, Hamilton, Caroline, additional, Braim, Delyth, additional, Wooldridge, Helen, additional, Abrahams, Rachel, additional, Paton, Alison, additional, Lancaster, Nicola, additional, Gibbins, Andrew, additional, Hogben, Karen, additional, Desousa, Phillipa, additional, Muscariu, Florin, additional, Musselwhite, Janine, additional, McKay, Alexandra, additional, Tan, LaiTing, additional, Foale, Carole, additional, Brighton, Jacqueline, additional, Flahive, Kerry, additional, Nambela, Estelle, additional, Townshend, Paula, additional, Ford, Chris, additional, Holder, Sophie, additional, Palmer, Caroline, additional, Featherstone, James, additional, Nasseri, Mariam, additional, Sadeghian, Joy, additional, Williams, Bronwen, additional, Thomas, Carol, additional, Rolls, Sally-Ann, additional, Hynes, Abigail, additional, Duggan, Claire, additional, Jones, Sarah, additional, Crossey, Mary, additional, Stansfield, Glynis, additional, MacNicol, Carolyn, additional, Wilkins, Joy, additional, Wilhelmsen, Elva, additional, Raymode, Parizade, additional, Lee, Hye-Jeong, additional, Durant, Emma, additional, Bishop, Rebecca, additional, Ncube, Noma, additional, Tripoli, Sherill, additional, Casey, Rebecca, additional, Cowley, Caroline, additional, Miller, Richard, additional, Houghton, Kathryn, additional, Ducker, Samantha, additional, Wright, Fiona, additional, Bird, Bridget, additional, Baxter, Gwen, additional, Keggans, Janie, additional, Hughes, Maggie, additional, Grieve, Emma, additional, Young, Karin, additional, Williams, D., additional, Ocker, Kate, additional, Hines, Frances, additional, Martin, Kirsty, additional, Innes, Caron, additional, Valliani, Talal, additional, Fairlamb, Helen, additional, Thornthwaite, Sarah, additional, Eastick, Anne, additional, Tanqueray, Elizabeth, additional, Morrison, Jennifer, additional, Holbrook, Becky, additional, Browning, Julie, additional, Walker, Kirsten, additional, Congreave, Susan, additional, Verheyden, Juliette, additional, Slininger, Susan, additional, Stafford, Lizzie, additional, O’Donnell, Denise, additional, Ainsworth, Mark, additional, Lord, Susan, additional, Kent, Linda, additional, March, Linda, additional, Dickson, Christine, additional, Simpson, Diane, additional, Longhurst, Beverley, additional, Hayes, Maria, additional, Shpuza, Ervin, additional, White, Nikki, additional, Besley, Sarah, additional, Pearson, Sallyanne, additional, Wright, Alice, additional, Jones, Linda, additional, Gunter, Emma, additional, Dewhurst, Hannah, additional, Fouracres, Anna, additional, Farrington, Liz, additional, Graves, Lyn, additional, Marriott, Suzie, additional, Leoni, Marina, additional, Tyrer, David, additional, Martin, Kate, additional, Dali-kemmery, Lola, additional, Lambourne, Victoria, additional, Green, Marie, additional, Sirdefield, Dawn, additional, Amor, Kelly, additional, Colley, Julie, additional, Shinder, Bal, additional, Jones, Jayne, additional, Mills, Marisa, additional, Carnahan, Mandy, additional, Taylor, Natalie, additional, Boulton, Kerenza, additional, Tregonning, Julie, additional, Brown, Carly, additional, Clifford, Gayle, additional, Archer, Emily, additional, Hamilton, Maria, additional, Curtis, Janette, additional, Shewan, Tracey, additional, Walsh, Sue, additional, Warner, Karen, additional, Netherton, Kimberley, additional, Mupudzi, Mcdonald, additional, Gunson, Bridget, additional, Gitahi, Jane, additional, Gocher, Denise, additional, Batham, Sally, additional, Pateman, Hilary, additional, Desmennu, Senayon, additional, Conder, Jill, additional, Clement, Darren, additional, Gallagher, Susan, additional, Orpe, Jacky, additional, Chan, PuiChing, additional, Currie, Lynn, additional, O’Donohoe, Lynn, additional, Oblak, Metod, additional, Morgan, Lisa, additional, Quinn, Marie, additional, Amey, Isobel, additional, Baird, Yolanda, additional, Cotterill, Donna, additional, Cumlat, Lourdes, additional, Winter, Louise, additional, Greer, Sandra, additional, Spurdle, Katie, additional, Allison, Joanna, additional, Dyer, Simon, additional, Sweeting, Helen, additional, Kordula, Jean, additional, Aiba, Yoshihiro, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Kawai, Yosuke, additional, Kohn, Seik-Soon, additional, Gervais, Olivier, additional, Migita, Kiyoshi, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Higuchi, Nobito, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Takikawa, Hajime, additional, Ohira, Hiromasa, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, and Kokudo, Norihiro, additional

Published
2021
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40. Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Author

Lerner-Ellis, Jordan, Wang, Marina, White, Shana, Lebo, Matthew S, Agatep, Ron, Ainsworth, Peter, Akbari, Mohammad R, Aronson, Melyssa, Bader, Gary D, Basran, Raveen, Blavier, Andre, Blumenthal, Andrea, Buckley, Kathleen, Campbell, Jodi, Campeau, Philippe M, Care, Melanie, Carson, Nancy, Carter, Ronald, Charames, George, Chitayat, David, Chong, George, Chouinard, Edmond, Chun, Kathy, Craddock, Kenneth J, Docking, Rod, Eisen, Andrea, Faghfoury, Hanna, Farrell, Sandra, Feilotter, Harriet, Fernandez, Bridget, Forster-Gibson, Cynthia, Foulkes, William, Hegele, Robert, Holter, Spring, Horsburgh, Sheri, Hughes, Lauren, Hume, Stacey, Jewett, Franny, Karsan, Aly, Khalouei, Sam, Knoll, Joan, Kolomeitz, Elena, Maire, Georges, Marshall, Christian, McCready, Elizabeth, Moorhouse, Michael J, Morel, Chantal, Nelson, Tanya, OʼConnor, Brian, Ouellette, Francis, Parboosingh, Jillian, Ray, Peter, Rehm, Heidi, Riddell, Christie, Rosenblatt, David S, Ruchon, Andrea, Sadikovic, Bekim, Semotiuk, Kara, Scherer, Stephen W, Shuman, Cheryl, Silver, Josh, Siminovitch, Katherine, Solomon-Izsak, Lesley, Speevak, Marsha, Stavropoulos, James, Stein, Lincoln, Tannenbaum, Rhonda, Terespolsky, Deborah, Wintle, Richard F, Wong, Beatrix, Wong, Nora, Waye, John S, Woods, Michael O, Wyatt, Philip, and Young, Sean

Published
2015
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41. Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene

Author

Gazal, Steven, Sacre, Karim, Allanore, Yannick, Teruel, Maria, Goodall, Alison H, Tohma, Shigeto, Alfredsson, Lars, Okada, Yukinori, Xie, Gang, Constantin, Arnaud, Balsa, Alejandro, Kawasaki, Aya, Nicaise, Pascale, Amos, Christopher, Rodriguez-Rodriguez, Luis, Chiocchia, Gilles, Boileau, Catherine, Zhang, Jinyi, Vittecoq, Olivier, Barnetche, Thomas, Gay, Miguel A Gonzalez, Furukawa, Hiroshi, Cantagrel, Alain, Le Loët, Xavier, Sumida, Takayuki, Hurtado-Nedelec, Margarita, Richez, Christophe, Chollet-Martin, Sylvie, Schaeverbeke, Thierry, Combe, Bernard, Khoryati, Liliane, Coustet, Baptiste, El-Benna, Jammel, Siminovitch, Katherine, Plenge, Robert, Padyukov, Leonid, Martin, Javier, Tsuchiya, Naoyuki, and Dieudé, Philippe

Published
2015
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45. Significance of left ventricular apical–basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy

Author

Gruner, Christiane, Chan, Raymond H., Crean, Andrew, Rakowski, Harry, Rowin, Ethan J., Care, Melanie, Deva, Djeven, Williams, Lynne, Appelbaum, Evan, Gibson, C. Michael, Lesser, John R., Haas, Tammy S., Udelson, James E., Manning, Warren J., Siminovitch, Katherine, Ralph-Edwards, Anthony C., Rastegar, Hassan, Maron, Barry J., and Maron, Martin S.

Published
2014
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47. International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Author

Cordell, Heather J, Han, Younghun, Mells, George F, Li, Yafang, Hirschfield, Gideon M, Greene, Casey S, Xie, Gang, Juran, Brian D, Zhu, Dakai, Qian, David C, Floyd, James AB, Morley, Katherine I, Prati, Daniele, Lleo, Ana, Cusi, Daniele, Canadian-US PBC Consortium, Italian PBC Genetics Study Group, UK-PBC Consortium, Gershwin, M Eric, Anderson, Carl A, Lazaridis, Konstantinos N, Invernizzi, Pietro, Seldin, Michael F, Sandford, Richard N, Amos, Christopher I, Siminovitch, Katherine A, Sandford, Richard [0000-0002-7437-0560], and Apollo - University of Cambridge Repository

Subjects
Liver Cirrhosis, Biliary, Humans, Genome-Wide Association Study
Abstract

Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined

Published
2020
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