Primary Sjogren's syndrome is one of the most common autoimmune diseases. So far, genetic studies of Sjogren's syndrome have relied mostly on candidate gene approaches. To identify new genetic susceptibility loci for primary Sjogren's syndrome, we performed a three-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 556,134 autosomal SNPs in 542 cases and 1,050 controls. We then validated promising associations in 2 replication stages comprising 1,303 cases and 2,727 controls. The combined analysis identified GTF2I at 7q11.23 (rs117026326: P-combined = 1.31 x 10(-53), combined odds ratio (ORcombined) = 2.20) as a new susceptibility locus for primary Sjogren's syndrome. Our analysis also confirmed previously reported associations in Europeans in the regions of STAT4, TNFAIP3 and the major histocompatibility complex (MHC). Fine mapping of the region around GTF2I showed that rs117026326 in GTF2I had the most significant association, with associated SNPs extending from GTF2I to GTF2IRD1-GTF2I.
基金:
Research Special Fund for Public Welfare Industry of Health [201202004]; National Science Technology Pillar Program in the 11th Five-Year Plan [2008BAI59B03]; National Program on Key Research Project of New Drug Innovation [2012ZX09303006-002]; Knowledge Innovation Program of the Chinese Academy of Sciences [KSCX2-EW-J-8]; CAS/SAFEA International Partnership Program for Creative Research Teams [Y2CX131003]; National Natural Science Foundation of China [81072486, 81172857, 81101545]
第一作者单位:[1]Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Rheumatol & Clin Immunol, Beijing 100021, Peoples R China[2]Chinese Acad Med Sci, Minist Educ, Key Lab Rheumatol & Clin Immunol, Beijing 100730, Peoples R China
通讯作者:
通讯机构:[1]Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Rheumatol & Clin Immunol, Beijing 100021, Peoples R China[2]Chinese Acad Med Sci, Minist Educ, Key Lab Rheumatol & Clin Immunol, Beijing 100730, Peoples R China
推荐引用方式(GB/T 7714):
Li Yongzhe,Zhang Kunlin,Chen Hua,et al.A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23[J].NATURE GENETICS.2013,45(11):1361-+.doi:10.1038/ng.2779.
APA:
Li, Yongzhe,Zhang, Kunlin,Chen, Hua,Sun, Fei,Xu, Juanjuan...&Zhang, Fengchun.(2013).A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23.NATURE GENETICS,45,(11)
MLA:
Li, Yongzhe,et al."A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23".NATURE GENETICS 45..11(2013):1361-+