文献类型：期刊文献

英文题名：Association of the HLA-DRB1 with Scleroderma in Chinese Population

作者：He, Dongyi[1,2];Wang, Jiucun[3,4,5];Yi, Lin[6];Guo, Xinjian[1];Guo, Shicheng[3,4];Guo, Gang[7];Tu, Wenzhen[8];Wu, Wenyu[9];Yang, Li[10];Xiao, Rong[11];Li, Yuan[3,4];Chu, Haiyan[3,4];Lai, Syeling[12];Jin, Li[3,4];Zou, Hejian[5,13];Reveille, John D.[1];Assassi, Shervin[1];Mayes, Maureen D.[1];Zhou, Xiaodong[1]

第一作者：He, Dongyi

通信作者：Zhou, XD[1]

机构：[1]Univ Texas Med Sch Houston, Div Rheumatol & Clin Immunogenet, Houston, TX 77030 USA;[2]Guanghua Integrat Med Hosp, Inst Arthrit Res, Shanghai Acad Chinese Med Sci, Shanghai, Peoples R China;[3]Fudan Univ, Minist Educ MOE Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200433, Peoples R China;[4]Fudan Univ, State Key Lab Genet Engn, Shanghai 200433, Peoples R China;[5]Fudan Univ, Inst Rheumatol Immunol & Allergy, Shanghai 200433, Peoples R China;[6]Gansu Coll Tradit Chinese Med, Lanzhou, Gansu, Peoples R China;[7]Yiling Hosp, Shijiazhuang, Hebei Province, Peoples R China;[8]Shanghai Tradit Chinese Med Integrated Hosp, Shanghai, Peoples R China;[9]Fudan Univ, Div Dermatol, Huashan Hosp, Shanghai 200433, Peoples R China;[10]Teaching Hosp Chengdu Univ TCM, Div Rheumatol, Chengdu, Sichuan, Peoples R China;[11]Cent S Univ, Dept Dermatol, Xiangya Hosp 2, Changsha, Hunan, Peoples R China;[12]Michael E DeBakey VA Med Ctr, Dept Pathol, Baylor Coll Med, Houston, TX USA;[13]Fudan Univ, Div Rheumatol, Huashan Hosp, Shanghai 200433, Peoples R China

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

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

年份：2014

卷号：9

期号：9

外文期刊名：PLOS ONE

收录：;Scopus(收录号：2-s2.0-84906965770);WOS:【SCI-EXPANDED(收录号:WOS:000341257700129)】；

基金：The studies were supported by research grants from the US NIH NIAID UO1, 1U01AI09090, International S&T Cooperation Program of China (2013DFA30870), the National Science Foundation of China (81270120), and the Ministry of Science and Technology (2011BAI09B00). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

语种：英文

摘要：Multiple alleles of the Human leukocyte antigen (HLA) DRB1 have been strongly associated with systemic sclerosis (SSc) and its clinical or serological subsets. However, the associations vary in different ethnic populations. To define SSc-risk and/or protective alleles of HLA-DRB1 in Chinese population, we studied a Han Chinese cohort containing 585 patients with SSc and 458 gender-matched, unrelated controls. The HLA-DRB1 genotyping was performed with sequence-based typing method. Exact p-values were obtained (Fisher's test) from 262 tables of allele frequency and disease status. The major SSc risk allele subtypes of HLA-DRB1 are the DRB1*15:02 and *16:02 in this Chinese cohort. Particularly, DRB1*15: 02 was most significantly associated with anti-centromere autoantibodies (ACA) positive, and DRB1*16:02 with anti-topoisomerase I autoantibodies (ATA) positive patients. On the other hand, DRB1*01:01 and *04:06 were strong SSc-protective alleles in Chinese, especially in patients who were ACA positive and had diffuse cutaneous SSc (dcSSc), respectively. In addition, DRB1*11 and *07:01 also showed significant association with SSc as a risk for and protection from SSc, respectively, and which is consistent with the studies of Spanish, US Caucasian and Hispanic populations. DRB1*15 was associated with ATA positive Chinese SSc that is consistent with Black South African and Korean SSc. These findings of HLA-DRB1 alleles in association with Chinese SSc provide the growing knowledge of genetics of SSc, and indicate that the genetic heterogeneity among ethnicities may significantly impact the complex trait of SSc.