Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Curr Opin Nephrol Hypertens. 2019 Jan;28(1):87-96. doi: 10.1097/MNH.0000000000000470.
Chronic kidney disease (CKD) can cluster in geographic locations or in people of particular genetic ancestries. We explore APOL1 nephropathy and Balkan nephropathy as examples of CKD clustering that illustrate genetics and environment conspiring to cause high rates of kidney disease. Unexplained hotspots of kidney disease in Asia and Central America are then considered from the perspective of potential gene × environment interactions.
We report on evidence supporting both genes and environment in these CKD hotspots. Differing genetic susceptibility between populations and within populations may explain why causal environmental risk factors have been so hard to identify conclusively. Similarly, one cannot explain why these epidemics of kidney disease are happening now without invoking environmental changes.
Approaches to these CKD hotspots are of necessity becoming more holistic. Genetic studies may help us identify the environmental triggers by teaching us about disease biology and may empower environmental risk factor studies by allowing for stratification of study participants by genetic susceptibility.
慢性肾脏病（CKD）可能在地理区域或特定遗传背景的人群中聚集。我们以 APOL1 肾病和巴尔干肾病为例，探讨 CKD 聚集的原因，这些疾病说明了遗传和环境共同导致了高比率的肾脏疾病。然后从潜在的基因与环境相互作用的角度，来考虑亚洲和中美洲未明原因的肾脏病热点地区。
我们报告了支持这些 CKD 热点地区的基因和环境的证据。不同人群之间以及人群内部的遗传易感性差异可能解释了为什么因果环境风险因素一直难以明确确定。同样，如果不考虑环境变化，就无法解释为什么这些肾脏病的流行现在正在发生。
这些 CKD 热点地区的研究方法必然变得更加全面。遗传研究可以通过了解疾病生物学来帮助我们确定环境触发因素，并通过允许根据遗传易感性对研究参与者进行分层，使环境风险因素研究更具实力。
