Genome-Wide Association Study for Serum Complement C3 and C4 Levels in Healthy Chinese Subjects

• DOI: 10.1371/journal.pgen.1002916
• Publication Date: 2012-09-15T00:59:39Z
• Authors: Xiaobo Yang; Jielin Sun; Yong Gao; Aihua Tan; Haiying Zhang; Yanling Hu; Junjie Feng; Xue Qin; Sha Tao; Zhuo Chen; Seong-Tae Kim; Tao Peng; Ming Liao; Xiaoling Lin; Zengfeng Zhang; Minzhong Tang; Li Li; Linjian Mo; Zhengjia Liang; Deyi Shi; Zhang Huang; Xianghua Huang; Ming Liu; Qian Liu; Shijun Zhang; Jeffrey M. Trent; S. Lilly Zheng; Jianfeng Xu; Zengnan Mo
• Keywords: Genome-wide Association Study; Genetic Association

Complement C3 and C4 play key roles in the main physiological activities of complement system, their deficiencies or over-expression are associated with many clinical infectious immunity diseases. A two-stage genome-wide association study (GWAS) was performed for serum levels C4. The first stage conducted 1,999 healthy Chinese men, second an additional 1,496 subjects. We identified two SNPs, rs3753394 CFH gene rs3745567 gene, that significantly at a significance level (P = 7.33×10−11 P 1.83×10−9, respectively). For C4, one large genomic region on chromosome 6p21.3 is levels. Two SNPs (rs1052693 rs11575839) were located MHC class I area include HLA-A, HLA-C, HLA-B genes. (rs2075799 rs2857009) 5′ 3′ gene. other four rs2071278, rs3763317, rs9276606, rs241428, II includes HLA-DRA, HLA-DRB, HLA-DQB combined P-values those eight ranged from 3.19×10−22 to 5.62×10−97. HBsAg-positive subjects have lower protein concentrations compared HBsAg-negative (P<0.05). Our GWAS report which shows genetic components influence significant findings provide novel insights related autoimmune, diseases, molecular mechanisms.