title: Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population.
abstract: The distribution of complement component 4 (C4) gene copy number (GCN) has been validated in European populations. Meanwhile, C4 gene has been identified as a susceptibility gene for systemic lupus erythematosus (SLE). However, the association and the possible phenotype significance remain to be determined intensely in the Chinese population. This study was designed to validate the distribution of C4 GCNs in Chinese Han and the correlation between C4 GCNs and SLE using quantitative real-time polymerase chain reaction in 924 SLE patients and 1,007 controls. The results presented distribution of C4 GCNs in healthy populations and also showed that lower C4 GCN was a risk factor for SLE and higher C4 GCN was a protective factor against the disease susceptibility, which was similar to the report in the Caucasian population. Furthermore, we found the association between C4A GCN and disease subphenotypes of arthritis with SLE. We conclude that the association of C4 GCN with SLE was replicated in Chinese Han population, which highlighted the importance of C4 in SLE pathogenesis of diverse populations.
authors: Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, People's Republic of China.
authors: Yongmei
authors: Y
authors: Lv
authors: Sumin
authors: S
authors: He
authors: Zheng
authors: Z
authors: Zhang
authors: Yang
authors: Y
authors: Li
authors: Dayan
authors: D
authors: Hu
authors: Kunju
authors: K
authors: Zhu
authors: Hui
authors: H
authors: Cheng
authors: Fusheng
authors: F
authors: Zhou
authors: Gang
authors: G
authors: Chen
authors: Xiaodong
authors: X
authors: Zheng
authors: Pan
authors: P
authors: Li
authors: Yunqing
authors: Y
authors: Ren
authors: Xianyong
authors: X
authors: Yin
authors: Yong
authors: Y
authors: Cui
authors: Liangdan
authors: L
authors: Sun
authors: Sen
authors: S
authors: Yang
authors: Xuejun
authors: X
authors: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D003181:Complement C4 / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D060888:Real-Time Polymerase Chain Reaction; D018570:Risk Assessment; D012307:Risk Factors; D055815:Young Adult
chemical_list: D003181:Complement C4