title: Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population.
abstract: Dermatomyositis (DM) is a polygenic disorder characterized by inflammation of skeletal muscle and skin. To date, the exact etiopathogenesis of DM remains elusive. To explore the genetic basis of DM, we conducted genome-wide genotyping analysis of 127 patients and 1566 healthy controls by Illumina Human OmniZhongHua-8 BeadChips in the Chinese Han population. We investigated whether the three SNP (rs7750458, rs9501251 and rs9500928) at 6p21.32 in the HLA-DPB1 gene were significantly associated with DM (P < 5 × 10-8) and identified two susceptibility loci at 7q34 (PIP, rs9986765, P = 7.45 × 10-7, odds ratio [OR] = 2.71) and 10q24.2 (CPN1, rs3750716, P = 9.04 × 10-7, OR = 4.39) with suggestive evidence. We imputed 6674 classical human leukocyte antigen (HLA) alleles, amino acids and SNP from the discovery dataset, and stepwise analysis revealed that HLA-DPB1*17 in class II HLA genes were significantly associated with DM susceptibility. This study represents the first genome-wide association study (GWAS) of DM in the Chinese Han population. For the first time, HLA-DPB1 was found to be associated with DM in this population. Moreover, we identified two novel suggestive susceptibility loci (PIP and CPN1) and confirmed four previously reported genes (DMB, DQA1, DQB1 and DRB1) having potential associations with DM in the Chinese Han population. Our GWAS results in this population should provide important information regarding the genetic etiopathogenesis of DM and facilitate the development of new therapies for the treatment of DM and the prevention of DM progression.
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Department of Dermatology, Zhengzhou Children's Hospital, Henan, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Chang-E
authors.initials: CE
authors.lastname: Zhang
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Zai-Xing
authors.initials: ZX
authors.lastname: Wang
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Jin-Ping
authors.initials: JP
authors.lastname: Gao
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Xiao-Guang
authors.initials: XG
authors.lastname: Zhang
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Xian-Bo
authors.initials: XB
authors.lastname: Zuo
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Yu-Jun
authors.initials: YJ
authors.lastname: Sheng
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.
authors.forename: Liang-Dan
authors.initials: LD
authors.lastname: Sun
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China.|Department of Dermatology, No. 2 Hospital, Anhui Medical University, Hefei, China.|Department of Dermatology, Institutes of Dermatology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.affiliation: State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. xjhhsyy@163.com.|Department of Dermatology, Institutes of Dermatology, Huashan Hospital, Fudan University, Shanghai, China. xjhhsyy@163.com.
authors.forename: Jin-Hua
authors.initials: JH
authors.lastname: Xu
authors.affiliation: Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. yangsen@medmail.com.cn.|Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. yangsen@medmail.com.cn.|State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. yangsen@medmail.com.cn.|Department of Dermatology, No. 2 Hospital, Anhui Medical University, Hefei, China. yangsen@medmail.com.cn.
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D003882:Dermatomyositis / Q000276:immunology*; D005260:Female; D059868:HLA-DP beta-Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen
keywords: 
  HLA-DPB1
  ; Chinese Han population; dermatomyositis; genome-wide association study; variation