TY - JOUR
T1 - Carriers of rare missense variants in IFIH1 are protected from psoriasis
AU - Li, Yonghong
AU - Liao, Wilson
AU - Cargill, Michele
AU - Chang, Monica
AU - Matsunami, Nori
AU - Feng, Bing Jian
AU - Poon, Annie
AU - Callis-Duffin, Kristina P.
AU - Catanese, Joseph J.
AU - Bowcock, Anne M.
AU - Leppert, Mark F.
AU - Kwok, Pui Yan
AU - Krueger, Gerald G.
AU - Begovich, Ann B.
N1 - Funding Information:
We thank the patients and other individuals for contribution to clinical samples; K Ardlie, J Lemaire, and S Mahan for database and sample management at GCI; A Peiffer and M Dixon for invaluable input; M Hoffman, T Christensen, T Nelson, and B Wong for help recruiting patients and coordinating the project at the University of Utah; M Paul and colleagues at LineaGen for managing the collaboration; and TJ White and JJ Sninsky for scientific advice. The financial support for this study was, in part, provided by the Dermatology Foundation to W Liao, by the National Institutes of Health Grant 1R01AR050266 to AM Bowcock, by a Public Health Services research grant to the Huntsman General Clinical Research Center at the University of Utah, by National Center for Research Resources Grant M01-RR00064, and by generous gifts from the WM Keck Foundation and from the George S and Delores Dore Eccles Foundation.
PY - 2010/12
Y1 - 2010/12
N2 - Testing of 25,000 putative functional single-nucleotide polymorphisms (SNPs) across the human genome in a genetic association study has identified three psoriasis genes, IL12B, IL23R, and IL13. We now report evidence for the association of psoriasis risk with missense SNPs in the interferon induced with helicase C domain 1 gene (IFIH1). The rare alleles of two independent SNPs were associated with decreased risk of psoriasisrs35667974 (Ile923Val): odds ratio (OR) for minor allele carriers is 0.43, P2.36 × 10-5 (2,098 cases vs. 1,748 controls); and rs10930046 (His460Arg): OR for minor allele carriers is 0.51, P=6.47 × 10-4 (2,098 cases vs. 1,744 controls). Compared to noncarriers, carriers of the 923Val and/or 460Arg variants were protected from psoriasis (OR0.46, P5.56 × 10-8). To our knowledge, these results suggest that IFIH1 is a previously unreported psoriasis gene.
AB - Testing of 25,000 putative functional single-nucleotide polymorphisms (SNPs) across the human genome in a genetic association study has identified three psoriasis genes, IL12B, IL23R, and IL13. We now report evidence for the association of psoriasis risk with missense SNPs in the interferon induced with helicase C domain 1 gene (IFIH1). The rare alleles of two independent SNPs were associated with decreased risk of psoriasisrs35667974 (Ile923Val): odds ratio (OR) for minor allele carriers is 0.43, P2.36 × 10-5 (2,098 cases vs. 1,748 controls); and rs10930046 (His460Arg): OR for minor allele carriers is 0.51, P=6.47 × 10-4 (2,098 cases vs. 1,744 controls). Compared to noncarriers, carriers of the 923Val and/or 460Arg variants were protected from psoriasis (OR0.46, P5.56 × 10-8). To our knowledge, these results suggest that IFIH1 is a previously unreported psoriasis gene.
UR - http://www.scopus.com/inward/record.url?scp=78149470326&partnerID=8YFLogxK
U2 - 10.1038/jid.2010.214
DO - 10.1038/jid.2010.214
M3 - Article
AN - SCOPUS:78149470326
SN - 0022-202X
VL - 130
SP - 2768
EP - 2772
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 12
ER -