Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease

S Koyama, K Ito, C Terao, M Akiyama, M Horikoshi… - Nature …, 2020 - nature.com
S Koyama, K Ito, C Terao, M Akiyama, M Horikoshi, Y Momozawa, H Matsunaga, H Ieki…
Nature genetics, 2020nature.com
To elucidate the genetics of coronary artery disease (CAD) in the Japanese population, we
conducted a large-scale genome-wide association study of 168,228 individuals of Japanese
ancestry (25,892 cases and 142,336 controls) with genotype imputation using a newly
developed reference panel of Japanese haplotypes including 1,781 CAD cases and 2,636
controls. We detected eight new susceptibility loci and Japanese-specific rare variants
contributing to disease severity and increased cardiovascular mortality. We then conducted …
Abstract
To elucidate the genetics of coronary artery disease (CAD) in the Japanese population, we conducted a large-scale genome-wide association study of 168,228 individuals of Japanese ancestry (25,892 cases and 142,336 controls) with genotype imputation using a newly developed reference panel of Japanese haplotypes including 1,781 CAD cases and 2,636 controls. We detected eight new susceptibility loci and Japanese-specific rare variants contributing to disease severity and increased cardiovascular mortality. We then conducted a trans-ancestry meta-analysis and discovered 35 additional new loci. Using the meta-analysis results, we derived a polygenic risk score (PRS) for CAD, which outperformed those derived from either Japanese or European genome-wide association studies. The PRS prioritized risk factors among various clinical parameters and segregated individuals with increased risk of long-term cardiovascular mortality. Our data improve the clinical characterization of CAD genetics and suggest the utility of trans-ancestry meta-analysis for PRS derivation in non-European populations.
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