Different ethnic populations commonly have distinct prevalence in complex multifactorial disorders, in which ethnic genetic heterogeneity is well known to play a crucial role. The Taiwan Biobank (TWB) population-based cohort study now enrolled over 200,000 participants aged 20–70 years from centers across Taiwan since 2008. Using the TWB database to determine the genetics basis of cardiometabolic traits in Taiwanese, we have found a lot of Asian-specific variants with their effects on lipid profile and biomarker levels. We have discovered a novel functional Asian-specific RETN variant, in which the resistin level increased by 4.7 times in the heterozygous state and this SNP contributed to a 13.8% variation in resistin level in the relatively healthy population. Furthermore, >50% of the circulating resistin levels were determined when combined with two other Asian-specific RETN variants, which contribute to prognosis in coronary artery disease patients. We have demonstrated that chromosome 16p13.3 variants, with pleiotropic effect on cardiometabolic traits, can be surrogate markers for a common a thalassemia deletion mutations (the - -SEA deletion mutation) in Taiwan. We also found many genetic variants determining lipid profiles and circulating PCSK9 level that is unique to the Asian populations. Several well-known Asian-specific variants, such as ALDH2 rs671, SLC10A1 rs2296651, SLC10A1 rs2296651 and APOBrs144467873 variants will also be discussed. The establishment of genetic basis of Taiwanese population may also help in performing Mendelian randomization studies and outcome studies of our own, including causal links between platelet counts and chemerin levels, between low-density lipoprotein cholesterol level and diabetes mellitus, between α-thalassemia indices and cardiometabolic traits and diabetes, and between remnant cholesterol levels and various cardiometabolic traits. The more extensive search in the field of genomics and functional characterization for the candidate variants will be critical in future personalized medicine.
Genetic determinants of cardiometabolic traits and biomarker levels in Taiwanese: Focused on the Asian-specific variants
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