Back

Population-specific and transethnic genome-wide analyses reveal distinct and shared genetic risks of coronary artery disease

Koyama, S.; Ito, K.; Terao, C.; Akiyama, M.; Horikoshi, M.; Momozawa, Y.; Matsunaga, H.; Ieki, H.; Ozaki, K.; Onouchi, Y.; Takahashi, A.; Nomura, S.; Morita, H.; Akazawa, H.; Kim, C.; Seo, J.-s.; Higasa, K.; Iwasaki, M.; Yamaji, T.; Sawada, N.; Tsugane, S.; Koyama, T.; Ikezaki, H.; Takashima, N.; Tanaka, K.; Arisawa, K.; Kuriki, K.; Naito, M.; Wakai, K.; Suna, S.; Sakata, Y.; Sato, H.; Hori, M.; Sakata, Y.; Matsuda, K.; Murakami, Y.; Aburatani, H.; Kubo, M.; Matsuda, F.; Kamatani, Y.; Komuro, I.

2019-11-16 genetics
10.1101/827550 bioRxiv
Show abstract

To elucidate the genetics of coronary artery disease (CAD) in the Japanese population, we conducted a large-scale genome-wide association study (GWAS) of 168,228 Japanese (25,892 cases and 142,336 controls) with genotype imputation using a newly developed reference panel of Japanese haplotypes including 1,782 CAD cases and 3,148 controls. We detected 9 novel disease-susceptibility loci and Japanese-specific rare variants contributing to disease severity and increased cardiovascular mortality. We then conducted a transethnic meta-analysis and discovered 37 additional novel loci. Using the result of the meta-analysis, we derived a polygenic risk score (PRS) for CAD, which outperformed those derived from either Japanese or European GWAS. The PRS prioritized risk factors among various clinical parameters and segregated individuals with increased risk of long-term cardiovascular mortality. Our data improves clinical characterization of CAD genetics and suggests the utility of transethnic meta-analysis for PRS derivation in non-European populations.

Matching journals

The top 3 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.