PMID- 27153935 OWN - NLM STAT- MEDLINE DCOM- 20170522 LR - 20221207 IS - 1346-8138 (Electronic) IS - 0385-2407 (Linking) VI - 43 IP - 11 DP - 2016 Nov TI - Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population. PG - 1307-1313 LID - 10.1111/1346-8138.13397 [doi] AB - 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 x 10(-8) ) and identified two susceptibility loci at 7q34 (PIP, rs9986765, P = 7.45 x 10(-7) , odds ratio [OR] = 2.71) and 10q24.2 (CPN1, rs3750716, P = 9.04 x 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. CI - (c) 2016 Japanese Dermatological Association. FAU - Zhang, Chang-E AU - Zhang CE AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Department of Dermatology, Zhengzhou Children's Hospital, Henan, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Li, Yang AU - Li Y AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Wang, Zai-Xing AU - Wang ZX AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Gao, Jin-Ping AU - Gao JP AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Zhang, Xiao-Guang AU - Zhang XG AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Zuo, Xian-Bo AU - Zuo XB AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Sheng, Yu-Jun AU - Sheng YJ AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Chen, Gang AU - Chen G AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Sun, Liang-Dan AU - Sun LD AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. FAU - Zhang, Xue-Jun AU - Zhang XJ AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. AD - Department of Dermatology, No. 2 Hospital, Anhui Medical University, Hefei, China. AD - Department of Dermatology, Institutes of Dermatology, Huashan Hospital, Fudan University, Shanghai, China. FAU - Xu, Jin-Hua AU - Xu JH AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. xjhhsyy@163.com. AD - Department of Dermatology, Institutes of Dermatology, Huashan Hospital, Fudan University, Shanghai, China. xjhhsyy@163.com. FAU - Yang, Sen AU - Yang S AD - Institute of Dermatology, Department of Dermatology and Venerology, No. 1 Hospital, Anhui Medical University, Hefei, China. yangsen@medmail.com.cn. AD - Collaborative Innovation Center of Complex and Severe Skin Disease, Anhui Medical University, Hefei, China. yangsen@medmail.com.cn. AD - State Key Lab Incubation of Dermatology, Ministry of Science and Technology, Hefei, China. yangsen@medmail.com.cn. AD - Department of Dermatology, No. 2 Hospital, Anhui Medical University, Hefei, China. yangsen@medmail.com.cn. LA - eng SI - GENBANK/rs7750458 SI - GENBANK/rs9501251 SI - GENBANK/rs9500928 SI - GENBANK/rs9986765 SI - GENBANK/rs3750716 SI - GENBANK/rs7574865 SI - GENBANK/rs1518364 SI - GENBANK/rs2736340 SI - GENBANK/rs951005 SI - GENBANK/rs76475517 SI - GENBANK/rs3823342 SI - GENBANK/rs2571382 SI - GENBANK/rs1053726 SI - GENBANK/rs12196740 SI - GENBANK/rs2596501 SI - GENBANK/rs2308557 SI - GENBANK/rs1063478 SI - GENBANK/rs1050391 SI - GENBANK/rs17617515 SI - GENBANK/rs12206426 SI - GENBANK/rs6934645 SI - GENBANK/rs12206377 SI - GENBANK/rs9272219 SI - GENBANK/rs9272783 SI - GENBANK/rs9272744 SI - GENBANK/rs2647025 SI - GENBANK/rs9273448 SI - GENBANK/rs32627833 SI - GENBANK/rs35445101 SI - GENBANK/rs9269693 SI - GENBANK/rs3830135 SI - GENBANK/rs2492358 SI - GENBANK/rs16868943 SI - GENBANK/rs760902 SI - GENBANK/rs430620 SI - GENBANK/rs3918154 SI - GENBANK/rs7905 SI - GENBANK/rs987870 SI - GENBANK/rs2071354 SI - GENBANK/rs2772372 SI - GENBANK/rs2516049 SI - GENBANK/rs477515 PT - Journal Article DEP - 20160506 PL - England TA - J Dermatol JT - The Journal of dermatology JID - 7600545 RN - 0 (HLA-DP beta-Chains) RN - 0 (HLA-DPB1 antigen) SB - IM MH - Adult MH - Aged MH - Asian People/genetics MH - Case-Control Studies MH - China MH - Dermatomyositis/*immunology MH - Female MH - HLA-DP beta-Chains/*genetics MH - Humans MH - Male MH - Middle Aged MH - Polymorphism, Single Nucleotide OTO - NOTNLM OT - HLA-DPB1 OT - Chinese Han population OT - dermatomyositis OT - genome-wide association study OT - variation EDAT- 2016/10/28 06:00 MHDA- 2017/05/23 06:00 CRDT- 2016/05/08 06:00 PHST- 2015/12/28 00:00 [received] PHST- 2016/02/27 00:00 [accepted] PHST- 2016/10/28 06:00 [pubmed] PHST- 2017/05/23 06:00 [medline] PHST- 2016/05/08 06:00 [entrez] AID - 10.1111/1346-8138.13397 [doi] PST - ppublish SO - J Dermatol. 2016 Nov;43(11):1307-1313. doi: 10.1111/1346-8138.13397. Epub 2016 May 6.