糖尿病肾病遗传学研究进展

Insights into the inherited susceptibility of diabetic nephropathy

糖尿病肾病(DN)具有遗传易感性,其发生有家族聚集性和种族差异,是一种复杂的多基因疾病。既往的候选基因研究关注于已知生物学通路的靶基因,而全基因组关联研究(GWAS)技术能够高效、无偏倚地调查全基因组,有望鉴定出新的基因和病理机制。基因表达的表观遗传学调控是DN遗传易感性的一个重要原因,下一代测序技术是研究罕见变异的理想工具。遗传学研究能够提供参与DN的特定通路的信息,有助于阐明DN的病理生理机制,开发早期诊断、预防和治疗的新策略,从而降低DN的发病率和病死率。

Susceptibility to diabetic nephropathy （DN） has an inherent genetic basis as evidenced by familial aggregation and ethnic-specific prevalence rates. DN has been widely considered as a polygenic disease. Previous ＇ candidate genes＇ studies selected genes with plausible physiological roles in DN. The GWAS approach allows for cost effective, unbiased sur- veys of the entire genome, with the hope of identifying novel genes which further elucidate the underlying biology of DN. Epi- genetic regulation of gene expression may represent an important contributor to an inherited predisposition to DN. The next- generation sequencing technology is an ideal tool to search for rare variants. Genetic studies may provide valuable informa- tion regarding the pathophysiology of DN and will lead to early detection and development of novel therapeutic strategies.