文献类型：期刊文献

英文题名：ASSOCIATION OF THE IRF5 SNP rs2004640 WITH SYSTEMIC SCLEROSIS IN HAN CHINESE

作者：Wang, J.[1,2,3];Yi, L.[4,5];Guo, X.[4];Liu, M.[4,6];Li, H.[4];Zou, H.[3,7];Gu, Y.[8];Tu, W.[9];Guo, G.[10];Yang, L.[11];Lai, S.[12,13];He, D.[14];Zhou, X.[4]

第一作者：Wang, J.

通信作者：Zhou, X[1]

机构：[1]Fudan Univ, State Key Lab Genet Engn, Shanghai 200433, Peoples R China;[2]Fudan Univ, Key Lab Contemporary Anthropol, Minist Educ, Sch Life Sci, Shanghai 200433, Peoples R China;[3]Fudan Univ, Inst Rheumatol Immunol & Allergy, Shanghai 200433, Peoples R China;[4]Univ Texas Houston, Sch Med, Div Rheumatol & Clin Immunogenet, Houston, TX 77030 USA;[5]Gansu Coll Tradit Chinese Med, Lanzhou, Peoples R China;[6]Hubei Univ, Coll Life Sci, Wuhan, Peoples R China;[7]Fudan Univ, Huashan Hosp, Shanghai 200433, Peoples R China;[8]Gansu Prov Hosp, Lanzhou, Peoples R China;[9]Shanghai Tradit Chinese Med Integrated Hosp, Shanghai, Peoples R China;[10]Yiling Hosp, Shijiazhuang, Peoples R China;[11]Chengdu Univ TCM, Teaching Hosp, Chengdu, Peoples R China;[12]Baylor Coll Med, Houston, TX 77030 USA;[13]Houston VA Hosp, Houston, TX USA;[14]Shanghai Guanghua Integrat Med Hosp, Shanghai Acad Chinese Med Sci, Inst Arthrit Res, Shanghai, Peoples R China

第一机构：Fudan Univ, State Key Lab Genet Engn, Shanghai 200433, Peoples R China

通信机构：[1]corresponding author), Univ Texas Houston, Sch Med, Div Rheumatol & Clin Immunogenet, 6431 Fannin St, Houston, TX 77030 USA.

年份：2014

卷号：27

期号：4

起止页码：635

外文期刊名：INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY

收录：;Scopus(收录号：2-s2.0-84925232413);WOS:【SCI-EXPANDED(收录号:WOS:000346755100020)】；

基金：The studies were supported by research grants from the US NIH NIAID UO1, 1U01AI09090 and the Science and Technology Committee of Shanghai Municipality (11410701800, 11DJ1400102), International S&T Cooperation Program of China (2013DFA30870), the National Basic Research Program (2012CB944600), Ministry of Science and Technology (2011BAI09B00), Ministry of Health (201002007); Key projects of Shanghai Municipal Health Bureau (2011027); The National Natural Science Funds (81273979), National Science Foundation of China (NSFC): Oversea Collaboration Project 81328001.

语种：英文

外文关键词：Scleroderma Systemic sclerosis/SSc; polymorphism/SNP; IRF5; genetics; Chinese population

摘要：Systemic sclerosis (SSc) is a complex disease involving multiple genetic factors. An association of the IRF5 polymorphism with SSc was reported in Caucasian populations of Europe and North America, as well as in Japanese populations. The present study aimed to examine whether the SSc-associated SNP rs2004640 of IRF5 gene confer susceptibility to SSc and clinical features of SSc in a Han Chinese population. A Han Chinese cohort consisting of 424 SSc patients and 502 healthy controls were examined in the study. TaqMan assays were carried out to examine the SNP. Exact p-values were obtained (Fisher's test) from 2x2 tables of allele counts and disease status. SSc patients of Han Chinese showed increased homozygous TT genotype of the rs2004640 (p = 0.027, odds ratio (OR) = 1.4, CI =1.03-1.93), which was significantly associated with pulmonary fibrosis of SSc and ATA-positive SSc of Han Chinese. The lcSSc and ACA-positive SSc of Han Chinese appeared also in association with the increased T allele frequency. However, the Chinese dcSSc did not show any association with the rs2004640. The results were consistent with previous reports in other ethnic populations in supporting the notion that polymorphisms of IRF5 may play an important role in susceptibility to SSc.