文献类型：期刊文献

英文题名：STAT4 IS A GENETIC RISK FACTOR FOR SYSTEMIC SCLEROSIS IN A CHINESE POPULATION

作者：Yi, L.[1,2];Wang, J. C.[3,4,5];Guo, X. J.[1];Gu, Y. H.[6];Tu, W. Z.[7];Guo, G.[8];Yang, L.[9];Xiao, R.[10];Yu, L.[7];Mayes, M. D.[1];Assassi, S.[1];Jin, L.[3,4];Zou, H. J.[5,11];Zhou, X. D.[1]

第一作者：Yi, L.;伊琳

通信作者：Zhou, XD[1]

机构：[1]Univ Texas Med Sch, Div Rheumatol & Clin Immunogenet, Houston, TX 77030 USA;[2]Gansu Coll Tradit Chinese Med, Lanzhou, Gansu, Peoples R China;[3]Fudan Univ, State Key Lab Genet Engn, Shanghai, Peoples R China;[4]Fudan Univ, Sch Life Sci, Minist Educ, Key Lab Contemporary Anthropol, Shanghai, Peoples R China;[5]Fudan Univ, Inst Rheumatol Immunol & Allergy, Shanghai, Peoples R China;[6]Gansu Prov Hosp, Lanzhou, Gansu, Peoples R China;[7]Shanghai Tradit Chinese Med Integrated Hosp, Shanghai, Peoples R China;[8]YilingHospital, Shijiazhuang, Hebei Province, Peoples R China;[9]Chengdu Univ, TCM, Teaching Hosp, Chengdu, Sichuan Provinc, Peoples R China;[10]Cent S Univ, Xiangya Hosp 2, Changsha, Hunan, Peoples R China;[11]Fudan Univ, Huashan Hosp, Shanghai, Peoples R China

第一机构：Univ Texas Med Sch, Div Rheumatol & Clin Immunogenet, Houston, TX 77030 USA

通信机构：[1]corresponding author), Univ Texas Med Sch, Div Rheumatol & Clin Immunogenet, 6431 Fannin St,Room 5-270, Houston, TX 77030 USA.

年份：2013

卷号：26

期号：2

起止页码：473

外文期刊名：INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY

收录：;WOS:【SCI-EXPANDED(收录号:WOS:000321161000020)】；

基金：The studies were supported by research grants from the US NIH NIAID UO1, 1U01AI09090 and International S&T Cooperation Program of China (2013DFA30870), the Science and Technology Committee of Shanghai Municipality (11410701800, 11DJ1400102), the National Basic Research Program (2012CB944600), Ministry of Science and Technology (2011BAI09B00), Ministry of Health (201002007).

语种：英文

外文关键词：scleroderma systemic sclerosis; polymorphism; stat4; genetics; Chinese population

摘要：Systemic sclerosis (SSc) is an immune-mediated and complex genetic disease. An association of single-nucleotide polymorphisms (SNPs) in the STAT4 gene with SSc has been reported in European Caucasians, North Americans and Japanese. We undertook the current study to examine whether the STAT4 SNPs are also associated with susceptibility to SSc and SSc subsets in a Han Chinese population. A total of 453 Han Chinese patients with SSc and 534 healthy controls were examined in the study. The SNPs rs7574865, rs10168266 and rs3821236 of the STAT4 gene were examined with SNP TaqMan assays. The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc). The presence of anti-centromere (ACA) and limited cutaneous SSc (lcSSc) did not show significant association with any of the examined SNPs. The results were consistent with previous reports in other ethnic populations in supporting the notion that polymorphisms of STAT4 may play an important role in susceptibility to SSc. It also revealed different genetic aspects of SSc subsets in a Han Chinese population.