Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Glob Heart. 2017 Jun;12(2):169-171. doi: 10.1016/j.gheart.2017.01.008. Epub 2017 Mar 13.
Cardiometabolic diseases are major contributors to mortality and morbidity, and their burden displays global and regional disparities. Gene-environment interactions contribute to the pathogenesis of cardiometabolic diseases. Population differences in genetic structure, ancient environmental pressures that shape the human genome, and early life environmental adversities (e.g., in utero conditions) all contribute to observed disparities in global cardiometabolic diseases. The genetic and sociocultural diversity of global populations presents opportunities for discovering genomic loci that influence cardiometabolic diseases as illustrated by a few genetic, epigenetic, and population-genetic discoveries leading to notable understanding of disease mechanisms. However, African, Latin American and Hispanic, and indigenous peoples represent <4% of all genome-wide association study samples analyzed to date. Using examples of recent studies in African populations, we discuss the crucial importance of conducting genomic studies in ancestrally diverse populations to understand disease mechanisms and to prepare fertile ground for future delivery of precise health care to all individuals.
心血管代谢疾病是导致死亡率和发病率的主要原因,其负担存在全球和地区差异。基因-环境相互作用导致了心血管代谢疾病的发病机制。人口在遗传结构、塑造人类基因组的古代环境压力以及早期生活环境逆境(例如宫内环境)方面的差异,导致了全球心血管代谢疾病的观察到的差异。全球人口的遗传和社会文化多样性为发现影响心血管代谢疾病的基因组位点提供了机会,正如一些遗传、表观遗传和群体遗传发现为疾病机制的显著理解所证明的那样。然而,迄今为止,所有全基因组关联研究样本中,非洲人、拉丁美洲人和西班牙裔以及土著人民仅占 <4%。通过最近在非洲人群中进行的研究示例,我们讨论了在具有不同祖先的人群中进行基因组研究的至关重要性,以了解疾病机制并为未来为所有个体提供精确的医疗保健做好准备。