Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.

Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations. Circ Res. 2020 Jun 05;126(12):1816-1840 Authors: Fernández-Rhodes L, Young KL, Lilly AG, Raffield LM, Highland HM, Wojcik GL, Agler C, Love SM, Okello S, Petty LE, Graff M, Below JE, Divaris K, North KE Abstract Genome-wide association studies have revolutionized our understanding of the genetic underpinnings of cardiometabolic disease. Yet, the inadequate representation of individuals of diverse ancestral backgrounds in these studies may undercut their ultimate potential for both public health and precision medicine. The goal of this review is to describe the imperativeness of studying the populations who are most affected by cardiometabolic disease, to the aim of better understanding the genetic underpinnings of the disease. We support this premise by describing the current variation in the global burden of cardiometabolic disease and emphasize the importance of building a globally and ancestrally representative genetics evidence base for the identification of population-specific variants, fine-mapping, and polygenic risk score estimation. We discuss the important ethical, legal, and social implications of increasing ancestral diversity in genetic studies of cardiometabolic disease and the challenges that arise from the (1) lack of diversity in current reference populations and available analytic samples and the (2) unequal generation of health-associ...
Source: Circulation Research - Category: Cardiology Authors: Tags: Circ Res Source Type: research