Institutional Repository of Key Laboratory of Mental Health, CAS
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 | |
通讯作者邮箱 | wangjing@psych.ac.cn ; zhangkl@psych.ac.cn |
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. |
2017-05-26 | |
语种 | 英语 |
DOI | 10.1371/journal.pone.0177320 |
发表期刊 | PLOS ONE |
ISSN | 1932-6203 |
卷号 | 12期号:5页码:1-11 |
期刊论文类型 | Article |
收录类别 | SCI |
WOS关键词 | GENOME-WIDE ASSOCIATION ; ACUTE LYMPHOBLASTIC-LEUKEMIA ; SUSCEPTIBILITY LOCI ; COMPLEX TRAITS ; DISEASE GENES ; IKAROS GENE ; VISUALIZATION ; DISORDERS ; CONSENSUS |
WOS标题词 | Science & Technology |
WOS研究方向 | Science & Technology - Other Topics |
WOS类目 | Multidisciplinary Sciences |
WOS记录号 | WOS:000402063000004 |
资助机构 | 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) |
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 |
第一作者单位 | 中国科学院心理健康重点实验室 |
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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