肾病中的遗传流行病学
Genetic epidemiology in kidney disease.
作者信息
Ainsworth Hannah C, Langefeld Carl D, Freedman Barry I
机构信息
Department of Biostatistical Sciences, Division of Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, NC, USA.
出版信息
Nephrol Dial Transplant. 2017 Apr 1;32(suppl_2):ii159-ii169. doi: 10.1093/ndt/gfw270.
Familial aggregation of chronic kidney disease and its component phenotypes-reduced glomerular filtration rate, proteinuria and renal histologic changes-has long been recognized. Rates of severe kidney disease are also known to differ markedly between populations based on ancestry. These epidemiologic observations support the existence of nephropathy susceptibility genes. Several molecular genetic technologies are now available to identify causative loci. The present article summarizes available strategies useful for identifying nephropathy susceptibility genes, including candidate gene association, family-based linkage, genome-wide association and admixture mapping (mapping by admixture linkage disequilibrium) approaches. Examples of loci detected using these techniques are provided. Epigenetic studies and future directions are also discussed. The identification of nephropathy susceptibility genes, coupled with modifiable environmental triggers impacting their function, is likely to improve risk prediction and transform care. Development of novel therapies to prevent progression of kidney disease will follow.
慢性肾脏病及其组成表型（肾小球滤过率降低、蛋白尿和肾脏组织学改变）的家族聚集现象早已为人所知。严重肾脏疾病的发病率在不同种族人群中也存在显著差异。这些流行病学观察结果支持了肾病易感基因的存在。目前有多种分子遗传学技术可用于识别致病基因座。本文总结了有助于识别肾病易感基因的可用策略，包括候选基因关联、基于家系的连锁分析、全基因组关联分析和混合映射（通过混合连锁不平衡进行映射）方法。还提供了使用这些技术检测到的基因座实例。此外，还讨论了表观遗传学研究及未来发展方向。识别肾病易感基因，再结合影响其功能的可改变环境触发因素，可能会改善风险预测并变革医疗护理。随后将开发预防肾脏疾病进展的新疗法。
Zotero 插件