Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22

被引:61
作者
Li, Yonghong [1 ]
Liao, Wilson [2 ]
Chang, Monica [1 ]
Schrodi, Steven J. [1 ]
Bui, Nam [1 ]
Catanese, Joseph J. [1 ]
Poon, Annie [2 ]
Matsunami, Nori [3 ]
Callis-Duffin, Kristina P. [4 ]
Leppert, Mark F. [3 ,5 ]
Bowcock, Anne M. [6 ,7 ,8 ]
Kwok, Pui-Yan [2 ]
Krueger, Gerald G. [3 ]
Begovich, Ann B. [1 ]
机构
[1] Celera, Discovery Res, Alameda, CA 94502 USA
[2] Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA
[3] Univ Utah, Dept Human Genet, Salt Lake City, UT USA
[4] Univ Utah, Dept Dermatol, Salt Lake City, UT USA
[5] LineaGen Res Corp, Salt Lake City, UT USA
[6] Washington Univ, Sch Med, Dept Genet, Div Human Genet, St Louis, MO 63110 USA
[7] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA
[8] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA
关键词
GENOME-WIDE ASSOCIATION; TYROSINE-PHOSPHATASE; SUSCEPTIBILITY LOCI; POLYMORPHISMS; IL12B; IL23R; INTERLEUKIN-15; VARIANTS; VULGARIS; SEQUENCE;
D O I
10.1038/jid.2008.297
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Predisposition to psoriasis is known to be affected by genetic variation in HLA-C, IL12B, and IL23R, and although other psoriasis-associated variants have been identified, incontrovertible statistical evidence for these markers has not yet been obtained. To help resolve this issue, we tested 15 single-nucleotide polymorphisms ( SNPs) from 7 putative psoriasis-risk genes in 1,448 psoriasis patients and 1,385 control subjects; 3 SNPs, rs597980 in ADAM33, rs6908425 in CDKAL1 and rs3789604 in PTPN22, were significant with the same risk allele as in prior reports (one-sided P < 0.05, false discovery rate < 0.15). These three markers were tested in a fourth sample set (599 cases and 299 controls); one marker, rs597980, replicated (one-sided P < 0.05) and the other two had odds ratios with the same directionality as in the original sample sets. Mantel-Haenszel meta-analyses of all available case-control data, including those published by other groups, showed that these three markers were highly significant (rs597980: P = 0.0057 (2,025 cases and 1,597 controls), rs6908425: P 1.57 x 10(-5) ( 3,206 cases and 4,529 controls), and rs3789604: P 3.45 x 10(-5) (2,823 cases and 4,066 controls)). These data increase the likelihood that ADAM33, CDKAL1, and PTPN22 are true psoriasis-risk genes.
引用
收藏
页码:629 / 634
页数:6
相关论文
共 37 条
[1]   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
[2]   A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis [J].
Begovich, AB ;
Carlton, VEH ;
Honigberg, LA ;
Schrodi, SJ ;
Chokkalingam, AP ;
Alexander, HC ;
Ardlie, KG ;
Huang, QQ ;
Smith, AM ;
Spoerke, JM ;
Conn, MT ;
Chang, M ;
Chang, SYP ;
Saiki, RK ;
Catanese, JJ ;
Leong, DU ;
Garcia, VE ;
McAllister, LB ;
Jeffery, DA ;
Lee, AT ;
Batliwalla, F ;
Remmers, E ;
Criswell, LA ;
Seldin, MF ;
Kastner, DL ;
Amos, CI ;
Sninsky, JJ ;
Gregersen, PK .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (02) :330-337
[3]   CONTROLLING THE FALSE DISCOVERY RATE - A PRACTICAL AND POWERFUL APPROACH TO MULTIPLE TESTING [J].
BENJAMINI, Y ;
HOCHBERG, Y .
JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY, 1995, 57 (01) :289-300
[4]   A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes [J].
Bottini, N ;
Musumeci, L ;
Alonso, A ;
Rahmouni, S ;
Nika, K ;
Rostamkhani, M ;
MacMurray, J ;
Meloni, GF ;
Lucarelli, P ;
Pellecchia, M ;
Eisenbarth, GS ;
Comings, D ;
Mustelin, T .
NATURE GENETICS, 2004, 36 (04) :337-338
[5]   The genetics of psoriasis, psoriatic arthritis and atopic dermatitis [J].
Bowcock, AM ;
Cookson, WOCM .
HUMAN MOLECULAR GENETICS, 2004, 13 :R43-R55
[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]   The clinical genetics of psoriasis [J].
Campalani, E ;
Barker, JNWN .
CURRENT GENOMICS, 2005, 6 (01) :51-60
[8]   Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene [J].
Capon, Francesca ;
Bijlmakers, Marie-Jose ;
Wolf, Natalie ;
Quaranta, Maria ;
Huffmeier, Ulrike ;
Allen, Michael ;
Timms, Kirsten ;
Abkevich, Victor ;
Gutin, Alexander ;
Smith, Rhodri ;
Warren, Richard B. ;
Young, Helen S. ;
Worthington, Jane ;
Burden, A. David ;
Griffiths, Christopher E. M. ;
Hayday, Adrian ;
Nestle, Frank O. ;
Reis, Andre ;
Lanchbury, Jerry ;
Barker, Jonathan N. ;
Trembath, Richard C. .
HUMAN MOLECULAR GENETICS, 2008, 17 (13) :1938-1945
[9]   Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis [J].
Capon, Francesca ;
Di Meglio, Paola ;
Szaub, Joanna ;
Prescott, Natalie J. ;
Dunster, Christina ;
Baumber, Laura ;
Gutin, Alexander ;
Abkevic, Victor ;
Burden, A. David ;
Lanchbury, Jerry ;
Barker, Jonathan N. ;
Trembath, Richard C. ;
Nestle, Frank O. .
HUMAN GENETICS, 2007, 122 (02) :201-206
[10]   A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes [J].
Cargill, Michele ;
Schrodi, Steven J. ;
Chang, Monica ;
Garcia, Veronica E. ;
Brandon, Rhonda ;
Callis, Kristina P. ;
Matsunami, Nori ;
Ardlie, Kristin G. ;
Civello, Daniel ;
Catanese, Joseph J. ;
Leong, Diane U. ;
Panko, Jackie M. ;
McAllister, Linda B. ;
Hansen, Christopher B. ;
Papenfuss, Jason ;
Prescott, Stephen M. ;
White, Thomas J. ;
Leppert, Mark F. ;
Krueger, Gerald G. ;
Begovich, Ann B. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (02) :273-290