Title
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study
Date Issued
06 April 2012
Access level
open access
Resource Type
journal article
Author(s)
Lessard C.J.
Adrianto I.
Ice J.A.
Wiley G.B.
Kelly J.A.
Glenn S.B.
Adler A.J.
Li H.
Rasmussen A.
Williams A.H.
Ziegler J.
Comeau M.E.
Marion M.
Wakeland B.E.
Liang C.
Ramos P.S.
Grundahl K.M.
Gallant C.J.
Anaya J.M.
Bae S.C.
Boackle S.A.
Brown E.E.
Chang D.M.
Cho S.K.
Criswell L.A.
Edberg J.C.
Freedman B.I.
Gilkeson G.S.
Jacob C.O.
James J.A.
Kamen D.L.
Kimberly R.P.
Kim J.H.
Martin J.
Merrill J.T.
Niewold T.B.
Park S.Y.
Petri M.A.
Pons-Estel B.A.
Ramsey-Goldman R.
Reveille J.D.
Scofield R.H.
Song Y.W.
Stevens A.M.
Tsao B.P.
Vila L.M.
Vyse T.J.
Yu C.Y.
Guthridge J.M.
Kaufman K.M.
Harley J.B.
Wakeland E.K.
Langefeld C.D.
Gaffney P.M.
Montgomery C.G.
Moser K.L.
Info Heersink School of Medicine
Abstract
Systemic lupus erythematosus (SLE) is a chronic heterogeneous autoimmune disorder characterized by the loss of tolerance to self-antigens and dysregulated interferon responses. The etiology of SLE is complex, involving both heritable and environmental factors. Candidate-gene studies and genome-wide association (GWA) scans have been successful in identifying new loci that contribute to disease susceptibility; however, much of the heritable risk has yet to be identified. In this study, we sought to replicate 1,580 variants showing suggestive association with SLE in a previously published GWA scan of European Americans; we tested a multiethnic population consisting of 7,998 SLE cases and 7,492 controls of European, African American, Asian, Hispanic, Gullah, and Amerindian ancestry to find association with the disease. Several genes relevant to immunological pathways showed association with SLE. Three loci exceeded the genome-wide significance threshold: interferon regulatory factor 8 (IRF8; rs11644034; p meta-Euro = 2.08 × 10 -10), transmembrane protein 39A (TMEM39A; rs1132200; p meta-all = 8.62 × 10 -9), and 17q21 (rs1453560; p meta-all = 3.48 × 10 -10) between IKAROS family of zinc finger 3 (AIOLOS; IKZF3) and zona pellucida binding protein 2 (ZPBP2). Fine mapping, resequencing, imputation, and haplotype analysis of IRF8 indicated that three independent effects tagged by rs8046526, rs450443, and rs4843869, respectively, were required for risk in individuals of European ancestry. Eleven additional replicated effects (5 × 10 -8 < p meta-Euro < 9.99 × 10 -5) were observed with CFHR1, CADM2, LOC730109/IL12A, LPP, LOC63920, SLU7, ADAMTSL1, C10orf64, OR8D4, FAM19A2, and STXBP6. The results of this study increase the number of confirmed SLE risk loci and identify others warranting further investigation. © 2012 The American Society of Human Genetics.
Start page
648
End page
660
Volume
90
Issue
4
Language
English
OCDE Knowledge area
Genética, Herencia
Inmunología
Epidemiología
Scopus EID
2-s2.0-84859491100
PubMed ID
Source
American Journal of Human Genetics
ISSN of the container
15376605
DOI of the container
10.1016/j.ajhg.2012.02.023
Sponsor(s)
National Institute of Arthritis and Musculoskeletal and Skin Diseases, P30AR053483
Sources of information:
Directorio de Producción Científica
Scopus