Genome-wide association study toward 4-P medicine

Recent advances in genotyping technologies and analytic methods greatly contribute to investigating the entire genome in a large population in order to search for genetic factors controlling complex diseases and traits via Genome-Wide Association Study (GWAS). Many GWASs, however, have been accomplished primarily in samples of West European descent to date. Thus, it is not clear if the same or different loci play a role in Asian populations. To understand the genetic basis of lifestyle-related complex diseases such as Type 2 Diabetes (T2D) prevalent in Korea and complex traits with significant public health impact, we conducted Korean GWASs, the Korea Association Resource (KARE) GWAS and the Health Examinee (HEXA) shared control GWAS. Almost all of the participants (n=10,038) in the KARE study and about 3,700 individuals in the HEXA shared control study were genotyped for association analyses between common genetic variants and population-based quantitative traits (QTs) as well as T2D. We were able to identify several novel loci showing strong evidence of association with any of the numerous QTs (SBP, pulse rate, WHR, BMI, height, bone density, FPG, TG, HDLc, LDLc, ALB, BUN, GGT, ALT and AST) from GWASs. These findings highlight previously unknown biological pathways for several metabolic traits investigated in this study. In addition, we discovered several novel loci for complex traits from meta-analysis comprising our and 7 East Asian T2D GWASs. These findings derived from East Asians provide new perspectives on the etiology of T2D. Overall our results revealed both similarities and intriguing differences in the genes contributing to trait variation in Asian and European populations. Furthermore results from our GWASs will be the valuable and useful resource to realize the predictive, preventive, personalized and participatory medicine (4-P medicine) in the near future in Korea.