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Common variants near IKZF1 are associated with primary Sjogren's syndrome in Han Chinese
Qu, Susu1,2; Du, Yang1,2; Chang, Suhua1,2; Guo, Liyuan1,2; Fang, Kechi1,2; Li, Yongzhe3,4; Zhang, Fengchun3,4; Zhang, Kunlin1,2; Wang, Jing1,2; J.Wang; K. Zhang
2017-05-26
发表期刊PLOS ONE
通讯作者邮箱wangjing@psych.ac.cn ; zhangkl@psych.ac.cn
ISSN1932-6203
文章类型Article
卷号12期号:5页码:1-11
摘要

Primary Sjogren's syndrome (pSS) is a systematic autoimmune disease with evidence of genetic predisposition. The IKZF1 (IKAROS family zinc finger 1 (Ikaros)) gene is located at 7p12.2, encodes a transcription factor related to chromatin remodeling, regulates lymphocyte differentiation, and has been reported to be associated with some autoimmune diseases. However, there have been no reports of an association between IKZF1 and pSS. To investigate the possibility of an association between the IKZF1 locus and pSS, we selected two single nucleotide polymorphisms (SNPs) in the IKZF1 locus, rs4917129 and rs4917014, based on a detailed analysis of genome-wide association study (GWAS) data and performed genotyping in 665 Han Chinese pSS patients and 863 healthy controls. The results of an association test showed significant association signals (rs4917129: P-value = 5.5e-4, OR (odds ratio) = 0.72, 95% CI (confidence interval) = 0.60-0.87; rs4917014: P-value = 1.2e-3, OR = 0.76, 95% CI = 0.64-0.89). A meta-analysis that combined the above results with data from previous GWAS, further confirmed these associations (rs4917129: P-meta = 4.24e-8, ORmeta = 0.70, 95% CI = 0.61-0.79; rs4917014: P-meta = 6.0e-8, ORmeta = 0.72, 95% CI = 0.64-0.81). A bioinformatics analysis indicated that both SNPs were located in a putative enhancer area in immune-related cell lines and tissues. A protein-protein interaction analysis found that IKZF1, together with GTF2I (an SS susceptibility gene newly identified through GWAS), could interact with histone deacetylase family proteins. In summary, this is the first study to report an association between IKZF1 and SS in Han Chinese.

DOI10.1371/journal.pone.0177320
收录类别SCI
语种英语
项目资助者Chinese Academy of Sciences/State Administration of Foreign Experts Affairs (CAS/SAFEA) International Partnership Program for Creative Research Teams(Y2CX131003) ; National Natural Science Foundation of China(81101545)
WOS研究方向Science & Technology - Other Topics
WOS类目Multidisciplinary Sciences
WOS记录号WOS:000402063000004
WOS标题词Science & Technology
关键词[WOS]GENOME-WIDE ASSOCIATION ; ACUTE LYMPHOBLASTIC-LEUKEMIA ; SUSCEPTIBILITY LOCI ; COMPLEX TRAITS ; DISEASE GENES ; IKAROS GENE ; VISUALIZATION ; DISORDERS ; CONSENSUS
引用统计
文献类型期刊论文
条目标识符http://ir.psych.ac.cn/handle/311026/21525
专题中国科学院心理健康重点实验室
通讯作者J.Wang; K. Zhang
作者单位1.Chinese Acad Sci, Key Lab Mental Hlth, Inst Psychol, Beijing, Peoples R China
2.Univ Chinese Acad Sci, Dept Psychol, Beijing, Peoples R China
3.Beijing Union Med Coll Hosp, Peking Union Med Coll, Dept Rheumatol & Clin Immunol, Beijing, Peoples R China
4.Chinese Acad Med Sci, Minist Educ, Key Lab Rheumatol & Clin Immunol, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Qu, Susu,Du, Yang,Chang, Suhua,et al. Common variants near IKZF1 are associated with primary Sjogren's syndrome in Han Chinese[J]. PLOS ONE,2017,12(5):1-11.
APA Qu, Susu.,Du, Yang.,Chang, Suhua.,Guo, Liyuan.,Fang, Kechi.,...&K. Zhang.(2017).Common variants near IKZF1 are associated with primary Sjogren's syndrome in Han Chinese.PLOS ONE,12(5),1-11.
MLA Qu, Susu,et al."Common variants near IKZF1 are associated with primary Sjogren's syndrome in Han Chinese".PLOS ONE 12.5(2017):1-11.
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