Genome-Wide Association Studies of Genetic Impact on Cardiovascular and Metabolic Diseases in Asians: Opportunity for Discovery

Abstract

Cardiovascular and metabolic diseases (cardiometabolic diseases) are becoming a major public health crisis in Asia, particularly in China and India. While dietary and lifestyle changes are important contributing factors, genetic risk factors are the key culprits. To identify the genetic “felons” behind cardiometabolic diseases, a large number of genome-wide association studies (GWAS) have been conducted in populations of European descent, but only a handful have been completed in Asian populations. Major common genetic risk factors for cardiometabolic diseases have been identified in White populations. Many of them, such as genetic risk factors of type 2 diabetes, also have been confirmed as risk factors in Asian populations, whereas many other genetic variants for hypertension and coronary heart disease, are not shared between both populations. Such inconsistencies could be, because of small sample sizes of study cohorts or genetic differences, such as genomic patterns of linkage disequilibria, risk allele frequencies, or different environmental factors among populations. More GWAS in Asian populations of large sample size and meta-analysis of multiple cohorts are needed to reveal additional genetic risk factors of cardiometabolic diseases in Asians and to determine shared and different genetic factors between White and Asian populations. Gene by environment interaction (GxE) GWAS and GWAS of intervention studies are needed in Asian populations. A focus on functional variants is key for replication and confirmation across different populations.