IgA肾病遗传学研究的现状和展望  

Current status and prospects of genetic research on IgA nephropathy

作　　者：余学清 Yu Xueqing(Department of Nephrology,Guangdong Provincial People′s Hospital,Guangdong Academy of Medical Sciences,Guangzhou 510080,China)

机构地区：[1]广东省人民医院肾内科,广东省医学科学院,广州510080

出　　处：《中华医学杂志》2024年第16期1351-1355,共5页National Medical Journal of China

摘　　要：IgA肾病是最常见的原发性肾小球疾病,遗传因素在其发病中起着重要作用。继候选基因关联分析研究及全基因组连锁分析后,全基因组关联分析(GWAS)研究发现了多个易感基因与IgA肾病的发病和临床表型密切相关。同时,结构变异及表观遗传改变也与IgA肾病密切相关。目前已发现的遗传变异可解释约11%的IgA肾病的遗传度。在基因组医学时代,全基因组测序研究(WGS)为进一步了解IgA肾病的遗传变异提供了重要的线索,有助于发现更多的遗传易感位点;而多组学研究可综合分析单细胞测序、表达数量性状位点(eQTL)和基因组学等研究数据,寻找IgA肾病相关的细胞类型特异性易感基因为靶向药物研发的开展提供思路,将是未来研究的趋势和方向。IgA nephropathy is the most common primary glomerulonephritis worldwide,and genetic factors may play an important role in its pathogenesis.Following candidate gene association analysis and genome-wide linkage study,genome-wide association studies(GWAS)have found multiple susceptibility genes related to the pathogenesis and clinical phenotype of IgA nephropathy.Meanwhile,structural variation and epigenetic changes are also closely related to IgA nephropathy.Genetic variants have been found to explain about 11%of its heritability.In the current era of genomic medicine,how to find more susceptible genes/loci,whole genome sequencing studies(WGS)provide clues to further understand the genetic variation of IgA nephropathy.How to find the cell type-specific susceptibility genes associated with IgA nephropathy,multi-omics studies will conduct comprehensive analysis via single-cell sequencing,expression quantitative trait locus(eQTL)and genomics to find the pathogenic genes and offer insights into the development of targeted drugs,which will be the trend and direction of future research.

关 键 词：IGA肾病 基因组学 易感基因 全基因组关联分析 全基因组测序 

分 类 号：R692.31[医药卫生—泌尿科学]