文献类型：期刊文献

英文题名：ASSOCIATION OF HLA-DQB1*0501 WITH SCLERODERMA AND ITS CLINICAL FEATURES IN CHINESE POPULATION

作者：Zhou, X. D.[1];Yi, L.[1,2];Guo, X. J.[1];Chen, E.[1];Zou, H. J.[3,4];Jin, L.[5,6];Mayes, M. D.[1];Assassi, S.[1];Wang, J. C.[4,5,6]

第一作者：Zhou, X. D.

通信作者：Zhou, XD[1]

机构：[1]Univ Texas Houston, Sch Med, Div Rheumatol & Clin Immunogenet, Houston, TX 77030 USA;[2]Gansu Coll Tradit Chinese Med, Lanzhou, Gansu, Peoples R China;[3]Fudan Univ, Huashan Hosp, Shanghai 200433, Peoples R China;[4]Fudan Univ, Inst Rheumatol Immunol & Allergy, Shanghai 200433, Peoples R China;[5]Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200433, Peoples R China;[6]Fudan Univ, Sch Life Sci, Minist Educ, Key Lab Contemporary Anthropol, Shanghai 200433, Peoples R China

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

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

年份：2013

卷号：26

期号：3

起止页码：747

外文期刊名：INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY

收录：;Scopus(收录号：2-s2.0-84887481763);WOS:【SCI-EXPANDED(收录号:WOS:000325910500018)】；

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).

语种：英文

外文关键词：scleroderma; HLA; genetic association; susceptibility; Chinese population

摘要：Specific human leukocyte antigen (HLA) DQB1 alleles confer strong susceptibility to systemic sclerosis (SSc). However, the frequencies of specific DQB1 alleles and their associations with SSc vary according to ethnicity and clinical features of SSc. The aim of this study was to profile DQB1 alleles in a Chinese population and to identify specific DQB1 alleles in association with SSc of Han Chinese. A cohort containing 213 patients with SSc and 239 gender-matched and unrelated controls was examined in the study. The HLA-DQB1 genotyping was performed with sequence-based typing (SBT) method. Exact p-values were obtained (Fisher's test) from 2x2 tables of allele counts or allele carriers and disease status. Seventeen DQB1 alleles were found in the cohort. DQB1*03:03 was the most common allele in this cohort. DQB1*05:01 was significantly increased in SSc, and was strongly associated with anti-centromere autoantibodies (ACA). Compared with SSc in other ethnic populations, SSc patients of Han Chinese are distinct in association with DQB1*06:11, common in association with DQB1*05:01, but lack association with DQB1*03:01. In addition, DQB1*06:01 appeared more common in ATA-positive Chinese SSc, and marginally associated with pulmonary fibrosis, and an increased frequency of DQB1*03:03 was observed in anti-U1RNP-positive Chinese SSc patients.