Genetic Variants Influencing Joint Damage in Mexican Americans and European Americans With Rheumatoid Arthritis

被引:15
作者
Arya, Rector [1 ,2 ]
del Rincon, Inmaculada [3 ]
Farook, Vidya S. [1 ,2 ]
Restrepo, Jose F. [3 ]
Winnier, Diedre A. [4 ]
Fourcaudot, Marcel J. [5 ]
Battafarano, Daniel F. [6 ]
de Almeida, Marcio [7 ,8 ]
Kumar, Satish [1 ,2 ]
Curran, Joanne E. [7 ,8 ]
Jenkinson, Christopher P. [1 ,2 ]
Blangero, John [7 ,8 ]
Duggirala, Ravindranath [1 ,2 ]
Escalante, Agustin [3 ]
机构
[1] Univ Texas Hlth Sci Ctr, South Texas Diabet & Obes Inst, Edinburg, TX USA
[2] Univ Texas Hlth Sci Ctr, Reg Acad Hlth Ctr, Edinburg, TX USA
[3] Univ Texas Hlth Sci Ctr San Antonio, Dept Med, Div Rheumatol & Clin Immunol, San Antonio, TX 78229 USA
[4] Univ Hlth Syst, Res & Informat Management, San Antonio, TX USA
[5] Univ Texas Hlth Sci Ctr San Antonio, Dept Med, Div Diabet, San Antonio, TX 78229 USA
[6] Brook Army Med Ctr, Ft Sam Houston, TX USA
[7] South Texas Diabet & Obes Inst, Brownsville, TX USA
[8] UT Brownsville, Brownsville, TX USA
关键词
rheumatoid arthritis susceptibility loci; joint damage; genetic association; Mexican Americans; European Americans; GENOME-WIDE ASSOCIATION; NF-KAPPA-B; SUSCEPTIBILITY LOCI; TNF; RISK; METAANALYSIS; DESTRUCTION; PATHWAY; POLYMORPHISM; PROGRESSION;
D O I
10.1002/gepi.21938
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Joint destruction in rheumatoid arthritis (RA) is heritable, but knowledge on specific genetic determinants of joint damage in RA is limited. We have used the Immunochip array to examine whether genetic variants influence variation in joint damage in a cohort of Mexican Americans (MA) and European Americans (EA) with RA. We studied 720 MA and 424 EA patients with RA. Joint damage was quantified using a radiograph of both hands and wrists, scored using Sharp's technique. We conducted association analyses with the transformed Sharp score and the Immunochip single nucleotide polymorphism (SNP) data using PLINK. In MAs, 15 SNPs from chromosomes 1, 5, 9, 17 and 22 associated with joint damage yielded strong p-values (p < 1 x 10(-4)). The strongest association with joint damage was observed with rs7216796, an intronic SNP located in the MAP3K14 gene, on chromosome 17 (beta +/- SE = -0.25 +/- 0.05, p = 6.23 x 10(-6)). In EAs, 28 SNPs from chromosomes 1, 4, 6, 9, and 21 showed associations with joint damage (p-value < 1 x 10-4). The best association was observed on chromosome 9 with rs59902911 (beta +/- SE = 0.86 +/- 0.17, p = 1.01 x 10(-6)), a synonymous SNP within the CARD9 gene. We also observed suggestive evidence for some loci influencing joint damage in MAs and EAs. We identified two novel independent loci (MAP3K14 and CARD9) strongly associated with joint damage in MAs and EAs and a few shared loci showing suggestive evidence for association. (C) 2015 Wiley Periodicals, Inc.
引用
收藏
页码:678 / 688
页数:11
相关论文
共 61 条
[1]   THE AMERICAN-RHEUMATISM-ASSOCIATION 1987 REVISED CRITERIA FOR THE CLASSIFICATION OF RHEUMATOID-ARTHRITIS [J].
ARNETT, FC ;
EDWORTHY, SM ;
BLOCH, DA ;
MCSHANE, DJ ;
FRIES, JF ;
COOPER, NS ;
HEALEY, LA ;
KAPLAN, SR ;
LIANG, MH ;
LUTHRA, HS ;
MEDSGER, TA ;
MITCHELL, DM ;
NEUSTADT, DH ;
PINALS, RS ;
SCHALLER, JG ;
SHARP, JT ;
WILDER, RL ;
HUNDER, GG .
ARTHRITIS AND RHEUMATISM, 1988, 31 (03) :315-324
[2]   Pathway and network-based analysis of genome-wide association studies in multiple sclerosis [J].
Baranzini, Sergio E. ;
Galwey, Nicholas W. ;
Wang, Joanne ;
Khankhanian, Pouya ;
Lindberg, Raija ;
Pelletier, Daniel ;
Wu, Wen ;
Uitdehaag, Bernard M. J. ;
Kappos, Ludwig ;
Polman, Chris H. ;
Matthews, Paul M. ;
Hauser, Stephen L. ;
Gibson, Rachel A. ;
Oksenberg, Jorge R. ;
Barnes, Michael R. .
HUMAN MOLECULAR GENETICS, 2009, 18 (11) :2078-2090
[3]   Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease [J].
Barrett, Jeffrey C. ;
Hansoul, Sarah ;
Nicolae, Dan L. ;
Cho, Judy H. ;
Duerr, Richard H. ;
Rioux, John D. ;
Brant, Steven R. ;
Silverberg, Mark S. ;
Taylor, Kent D. ;
Barmada, M. Michael ;
Bitton, Alain ;
Dassopoulos, Themistocles ;
Datta, Lisa Wu ;
Green, Todd ;
Griffiths, Anne M. ;
Kistner, Emily O. ;
Murtha, Michael T. ;
Regueiro, Miguel D. ;
Rotter, Jerome I. ;
Schumm, L. Philip ;
Steinhart, A. Hillary ;
Targan, Stephan R. ;
Xavier, Ramnik J. ;
Libioulle, Cecile ;
Sandor, Cynthia ;
Lathrop, Mark ;
Belaiche, Jacques ;
Dewit, Olivier ;
Gut, Ivo ;
Heath, Simon ;
Laukens, Debby ;
Mni, Myriam ;
Rutgeerts, Paul ;
Van Gossum, Andre ;
Zelenika, Diana ;
Franchimont, Denis ;
Hugot, Jean-Pierre ;
de Vos, Martine ;
Vermeire, Severine ;
Louis, Edouard ;
Cardon, Lon R. ;
Anderson, Carl A. ;
Drummond, Hazel ;
Nimmo, Elaine ;
Ahmad, Tariq ;
Prescott, Natalie J. ;
Onnie, Clive M. ;
Fisher, Sheila A. ;
Marchini, Jonathan ;
Ghori, Jilur .
NATURE GENETICS, 2008, 40 (08) :955-962
[4]   NF-κB signaling pathways regulated by CARMA family of scaffold proteins [J].
Blonska, Marzenna ;
Lin, Xin .
CELL RESEARCH, 2011, 21 (01) :55-70
[5]   Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients [J].
Bowes, John D. ;
Potter, Catherine ;
Gibbons, Laura J. ;
Hyrich, Kimme ;
Plant, Darren ;
Morgan, Ann W. ;
Wilson, Anthony G. ;
Isaacs, John D. ;
Worthington, Jane ;
Barton, Anne .
PHARMACOGENETICS AND GENOMICS, 2009, 19 (04) :319-323
[6]   Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].
Burton, Paul R. ;
Clayton, David G. ;
Cardon, Lon R. ;
Craddock, Nick ;
Deloukas, Panos ;
Duncanson, Audrey ;
Kwiatkowski, Dominic P. ;
McCarthy, Mark I. ;
Ouwehand, Willem H. ;
Samani, Nilesh J. ;
Todd, John A. ;
Donnelly, Peter ;
Barrett, Jeffrey C. ;
Davison, Dan ;
Easton, Doug ;
Evans, David ;
Leung, Hin-Tak ;
Marchini, Jonathan L. ;
Morris, Andrew P. ;
Spencer, Chris C. A. ;
Tobin, Martin D. ;
Attwood, Antony P. ;
Boorman, James P. ;
Cant, Barbara ;
Everson, Ursula ;
Hussey, Judith M. ;
Jolley, Jennifer D. ;
Knight, Alexandra S. ;
Koch, Kerstin ;
Meech, Elizabeth ;
Nutland, Sarah ;
Prowse, Christopher V. ;
Stevens, Helen E. ;
Taylor, Niall C. ;
Walters, Graham R. ;
Walker, Neil M. ;
Watkins, Nicholas A. ;
Winzer, Thilo ;
Jones, Richard W. ;
McArdle, Wendy L. ;
Ring, Susan M. ;
Strachan, David P. ;
Pembrey, Marcus ;
Breen, Gerome ;
St Clair, David ;
Caesar, Sian ;
Gordon-Smith, Katherine ;
Jones, Lisa ;
Fraser, Christine ;
Green, Elain K. .
NATURE, 2007, 447 (7145) :661-678
[7]   Power failure: why small sample size undermines the reliability of neuroscience [J].
Button, Katherine S. ;
Ioannidis, John P. A. ;
Mokrysz, Claire ;
Nosek, Brian A. ;
Flint, Jonathan ;
Robinson, Emma S. J. ;
Munafo, Marcus R. .
NATURE REVIEWS NEUROSCIENCE, 2013, 14 (05) :365-376
[8]   Rheumatoid arthritis: a view of the current genetic landscape [J].
Coenen, M. J. H. ;
Gregersen, P. K. .
GENES AND IMMUNITY, 2009, 10 (02) :101-111
[9]   Promise and pitfalls of the Immunochip [J].
Cortes, Adrian ;
Brown, Matthew A. .
ARTHRITIS RESEARCH & THERAPY, 2011, 13 (01)
[10]   A genetic variant in the region of MMP-9 is associated with serum levels and progression of joint damage in rheumatoid arthritis [J].
de Rooy, D. P. C. ;
Zhernakova, A. ;
Tsonaka, R. ;
Willemze, A. ;
Kurreeman, B. A. S. ;
Trynka, G. ;
van Toorn, L. ;
Toes, R. E. M. ;
Huizinga, T. W. J. ;
Houwing-Duistermaat, J. J. ;
Gregersen, P. K. ;
van der Helm-van Mil, A. H. M. .
ANNALS OF THE RHEUMATIC DISEASES, 2014, 73 (06) :1163-1169