ArticleMolecular biology and evolution2020
Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population.
Article in Molecular biology and evolution, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder.Biomolecules · 2021Trial
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Mitochondrial vulnerability to aldehydic load and the role mitochondrial aldehyde dehydrogenases.Pharmacological research · 2026Review
- Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people.Human genetics · 2025Article
- Article
- Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations.Nature communications · 2024Article
- Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing.Science advances · 2024Article
- Predicting Functional Consequences of Recent Natural Selection in Britain.Molecular biology and evolution · 2024Article
- Identification of genetic associations and functional SNPs of bovine KLF6 gene on milk production traits in Chinese holstein.BMC genomic data · 2023Article
- Predicting functional consequences of recent natural selection in Britain.bioRxiv : the preprint server for biology · 2023Article
- Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations.Molecular biology and evolution · 2023Article
- Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits.Nature genetics · 2023Article
- Progress in genetics of type 2 diabetes and diabetic complications.Journal of diabetes investigation · 2023Review
- The Promise of an Evolutionary Perspective of Alcohol Consumption.Neuroscience insights · 2023Review
- Article
- Article
- Evidence for differences in DNA methylation between Germans and Japanese.International journal of legal medicine · 2022Article
- Assessing the Genetic Background and Selection Signatures of Huaxi Cattle Using High-Density SNP Array.Animals : an open access journal from MDPI · 2021Article
- The evolution of skin pigmentation-associated variation in West Eurasia.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Allelic Variants Within the ABO Blood Group Phenotype Confer Protection Against Critical COVID-19 Hospital Presentation.Frontiers in medicine · 2021Article
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10 authors.
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Abstract
Elucidation of natural selection signatures and relationships with phenotype spectra is important to understand adaptive evolution of modern humans. Here, we conducted a genome-wide scan of selection signatures of the Japanese population by estimating locus-specific time to the most recent common ancestor using the ascertained sequentially Markovian coalescent (ASMC), from the biobank-based large-scale genome-wide association study data of 170,882 subjects. We identified 29 genetic loci with selection signatures satisfying the genome-wide significance. The signatures were most evident at the alcohol dehydrogenase (ADH) gene cluster locus at 4q23 (PASMC = 2.2 × 10-36), followed by relatively strong selection at the FAM96A (15q22), MYOF (10q23), 13q21, GRIA2 (4q32), and ASAP2 (2p25) loci (PASMC < 1.0 × 10-10). The additional analysis interrogating extended haplotypes (integrated haplotype score) showed robust concordance of the detected signatures, contributing to fine-mapping of the genes, and provided allelic directional insights into selection pressure (e.g., positive selection for ADH1B-Arg48His and HLA-DPB1*04:01). The phenome-wide selection enrichment analysis with the trait-associated variants identified a variety of the modern human phenotypes involved in the adaptation of Japanese. We observed population-specific evidence of enrichment with the alcohol-related phenotypes, anthropometric and biochemical clinical measurements, and immune-related diseases, differently from the findings in Europeans using the UK Biobank resource. Our study demonstrated population-specific features of the selection signatures in Japanese, highlighting a value of the natural selection study using the nation-wide biobank-scale genome and phenotype data.
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