Yu X Q
Department of Nephrology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
Zhonghua Yi Xue Za Zhi. 2024 Apr 23;104(16):1351-1355. doi: 10.3760/cma.j.cn112137-20231122-01155.
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.
IgA肾病是全球最常见的原发性肾小球肾炎，遗传因素可能在其发病机制中起重要作用。继候选基因关联分析和全基因组连锁研究之后，全基因组关联研究（GWAS）发现了多个与IgA肾病发病机制和临床表型相关的易感基因。同时，结构变异和表观遗传变化也与IgA肾病密切相关。已发现遗传变异可解释其约11%的遗传力。在当前的基因组医学时代，如何找到更多的易感基因/位点，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线索。如何找到与IgA肾病相关的细胞类型特异性易感基因，多组学研究将通过单细胞测序、表达定量性状位点（eQTL）和基因组学进行综合分析，以找到致病基因并为靶向药物的开发提供见解，这将是未来研究的趋势和方向。
