Department of Internal Medicine-Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC; Center for Human Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC.
Am J Kidney Dis. 2013 Dec;62(6):1165-75. doi: 10.1053/j.ajkd.2013.05.024. Epub 2013 Jul 26.
Variable rates of disease observed between members of different continental population groups may be mediated by inherited factors, environmental exposures, or their combination. This article provides evidence in support of differential allele frequency distributions that underlie the higher rates of nondiabetic kidney disease in the focal segmental glomerulosclerosis spectrum of disease and lower rates of coronary artery calcified atherosclerotic plaque and osteoporosis in populations of African ancestry. With recognition that these and other common complex diseases are affected by biological factors comes the realization that targeted manipulation of environmental exposures and pharmacologic treatments will have different effects based on genotype. The present era of precision medicine will couple one's genetic makeup with specific therapies to reduce rates of disease based on the presence of disease-specific alleles.
不同大陆人群群体之间观察到的疾病发生率的差异可能是由遗传因素、环境暴露或两者共同介导的。本文提供了证据支持不同等位基因频率分布的差异,这是导致非洲裔人群中非糖尿病性肾脏疾病的局灶节段性肾小球硬化谱疾病发生率较高和冠状动脉钙化粥样硬化斑块及骨质疏松症发生率较低的基础。认识到这些和其他常见的复杂疾病受到生物因素的影响,人们意识到针对环境暴露和药物治疗的靶向干预将根据基因型产生不同的效果。精准医学的时代将把一个人的基因组成与特定的治疗方法结合起来,根据特定疾病等位基因的存在来降低疾病的发生率。