Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing

X Liu, S Koyama, K Tomizuka, S Takata, Y Ishikawa… - Science …, 2024 - science.org
We generated Japanese Encyclopedia of Whole-Genome/Exome Sequencing Library
(JEWEL), a high-depth whole-genome sequencing dataset comprising 3256 individuals …

Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people

YN Koyanagi, M Nakatochi, S Namba, I Oze… - Science …, 2024 - science.org
An East Asian–specific variant on aldehyde dehydrogenase 2 (ALDH2 rs671, G> A) is the
major genetic determinant of alcohol consumption. We performed an rs671 genotype …

Adaptive Selection of Cis-regulatory Elements in the Han Chinese

S Liu, H Luo, P Zhang, Y Li, D Hao… - Molecular Biology …, 2024 - academic.oup.com
Cis-regulatory elements have an important role in human adaptation to the living
environment. However, the lag in population genomic cohort studies and epigenomic …

[HTML][HTML] Polygenic effects on the risk of Alzheimer's disease in the Japanese population

M Kikuchi, A Miyashita, N Hara, K Kasuga… - Alzheimer's Research & …, 2024 - Springer
Background Polygenic effects have been proposed to account for some disease
phenotypes; these effects are calculated as a polygenic risk score (PRS). This score is …

Cross-population applications of genomics to understand the risk of multifactorial traits involving inflammation and immunity

B Alamad, K Elliott, JC Knight - Cambridge Prisms: Precision …, 2024 - cambridge.org
The interplay between genetic and environmental factors plays a significant role in
interindividual variation in immune and inflammatory responses. The availability of high …

Genomic imputation of ancient Asian populations contrasts local adaptation in pre-and post-agricultural Japan

NP Cooke, M Murray, LM Cassidy, V Mattiangeli… - iScience, 2024 - cell.com
Early modern humans lived as hunter-gatherers for millennia before agriculture, yet the
genetic adaptations of these populations remain a mystery. Here, we investigate selection in …

Asian flush is a potential protective factor against COVID-19: a web-based retrospective survey in Japan

S Takashima, M Tokiya, K Izui, H Miyamoto… - … Health and Preventive …, 2024 - jstage.jst.go.jp
Background: Coronavirus disease 2019 (COVID-19), first reported in December 2019,
spread worldwide in a short period, resulting in numerous cases and associated deaths; …