中文摘要：

IgA肾病是多基因多因素参与的复杂性疾病。遗传因素参与IgA肾病的发病和进展。IgA肾病领域的遗传学研究包括以家系为基础的连锁分析和以散发病例为基础的关联分析。连锁分析发现6q22-23、4q26-31、17q12-22和2q36与家族性IgA肾病连锁，但至今未明确致病基因。早年的关联分析以候选基因关联分析为主，北京大学肾脏病研究所采用候选基因关联分析的研究方法，在国际上首次报告了糖基化关键酶的编码基因遗传多态性与IgA肾病易感性的关联。近年来，全基因组关联分析研究（ GWAS）的开展发现了5个与IgA肾病发病相关联的遗传区段，包括与获得性免疫相关的MHC区域，与天然免疫相关的8p23，17p13和22q12区域，以及与补体调控相关的1q32区域。GWAS研究带给我们海量数据的同时，也为后GWAS时代带来了许多的机遇和挑战。

英文摘要：

IgAnephropathy（IgAN）isapolygenicandmultifactorialcomplexdisease.Genetic factors are involved in the development and progression of IgAN. Two approaches have been applied in genetic studies of IgAN,including pedigree-based linkage studies and sporadic patients-based association studies. Although linkage analyses have yielded genetic signals at 6q22-23,4q26-31,17q12-22 and 2q36 for familial IgAN,no underlying gene in these loci has been identified. Early association studies were based on candidate genes. Peking University Institute of Kidney Diseases group′s previous candidate-gene association study showed for the first time an association of genetic variants in the genes encoding key enzymes of O-glycosylation of IgA1 with susceptibility to IgAN. Recently,genome-wide association studies （ GWAS）have identified five susceptibility loci for IgAN,including the major histocompatibility complex （MHC）region implicated in adaptive immunity,the 8p23,17p13 and 22q12 loci implicated in innate immunity,and the 1q32 locus implicated in complement regulation. The GWAS has brought us not only mass data,but lots of opportunities and challenges as well.