特发性膜性肾病自身抗原及基因单核苷酸多态性研究

Study on autoantigen and gene single nucleotide polymorphism of idiopathic membranous nephropathy

特发性膜性肾病(idiopathic membranous nephropathy,IMN)是成人肾病综合征的主要病因。现已发现M型磷脂酶A2受体(phospho-lipase A2 receptor,PLA2R)和1型血小板反应蛋白7A域(thrombospondin-type 1 domain containing 7A,THSD7A)两种自身抗原与成人IMN相关。全基因组关联研究(genome-wide association study,GWAS)确定了IMN两个最重要的危险因素为PLA2R(SNPrs4664308)和HLA-DQA1(SNP rs2187668),且两种风险等位基因纯合子的比值比为78.5。随后两者之间的基因-基因相互作用在中国IMN患者中得到验证。在中国,长期暴露于高水平的PM2.5被确定为IMN的一个环境风险因素。

Idiopathic membranous nephropathy (IMN) is the main pathogen of adult nephrotic syndrome. Up to now, it has been found that both the M-type phospholipase A2 receptor (PLA2R) and the type 1 thrombospondin 7A domain (THSD7A) are associated with adult IMN. The genome-wide association study (GWAS) has identified PLA2R(SNP rs4664308) and HLA-DQA1(SNP rs2187668) as two of the most important risk factors for IMN, and also the odds ratio of homozygosity for both was 78.5. Subsequently, the gene-gene interaction between the two was confirmed in Chinese IMN patients. The high level of PM2.5 for a long time in China has been identified as an environmental hazard for IMN.