title: Copy number variations of HLA-DRB5 is associated with systemic lupus erythematosus risk in Chinese Han population.
abstract: Systemic lupus erythematosus (SLE) is a polygenic, systemic, autoimmune disease. Copy number variants (CNVS) have been discovered to be associated with a number of complex disorders. We undertook the current study to explore the potential associations between genomic CNVS and SLE in Chinese Han population. In the discovery stage, seven SLE patients were examined with the high-density comparative genomic hybridization microarrays in the screening test for SLE associated CNVS. Then, in the validation stage, 135 SLE patients and 219 matched healthy subjects were investigated for the CNVS of gene HLA-DRB5 by AccuCopy™ technology. Quantitative polymerase chain reaction was carried out to determine the copy number (CN) and mRNA level of HLA-DRB5 in SLE patients. Although the mRNA level of HLA-DRB5 between the CN deletion group and the CN normal group in SLE patients was not statistically positive (P = 0.46), our results still showed more CN of HLA-DRB5 in SLE patients than in healthy controls (P = 3.98 × 10(-6)). Odds ratio for CN deletion was 0.38 (95% confidence interval (CI), 0.23-0.61, P = 7.79 × 10(-5)) and for CN duplication was 1.89 (95% CI, 0.56-7.66, P = 0.37), respectively. These findings indicated that CNVS of HLA-DRB5 was associated with the risk of SLE, and CN deletion appeared to be protective for SLE.
authors.affiliation: Department of Digestive Diseases of Huashan Hospital, Fudan University, Shanghai 200040, China.
authors.forename: Lijun
authors.initials: L
authors.lastname: Wu
authors.forename: Shicheng
authors.initials: S
authors.lastname: Guo
authors.forename: Dongqin
authors.initials: D
authors.lastname: Yang
authors.forename: Yanyun
authors.initials: Y
authors.lastname: Ma
authors.forename: Hengdong
authors.initials: H
authors.lastname: Ji
authors.forename: Yulin
authors.initials: Y
authors.lastname: Chen
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Wang
authors.forename: Li
authors.initials: L
authors.lastname: Jin
authors.forename: Jiucun
authors.initials: J
authors.lastname: Wang
authors.forename: Jie
authors.initials: J
authors.lastname: Liu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D020022:Genetic Predisposition to Disease; D059847:HLA-DRB5 Chains / Q000235:genetics*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D012306:Risk
chemical_list: D059847:HLA-DRB5 Chains
keywords: copy number variations; human leukocyte antigen; systemic lupus erythematosus