SynthesisNature communications2018
Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.
Synthesis in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 10 of them syntheses that pooled it.
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Who cites it
109 citing papers in PubMed, 10 syntheses or guidelines pooled it.
- Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people.Science advances · 2024Pooled it
- Identification of 13 Novel Loci in a Genome-Wide Association Study on Taiwanese with Hepatocellular Carcinoma.International journal of molecular sciences · 2023Pooled it
- Pooled it
- Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.Nature communications · 2023Pooled it
- Pooled it
- Association of theAnnals of the rheumatic diseases · 2020Pooled it
- Pooled it
- Subtype-specific gout susceptibility loci and enrichment of selection pressure onAnnals of the rheumatic diseases · 2020Pooled it
- Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.Nature genetics · 2019Pooled it
- Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.Communications biology · 2019Pooled it
- Trial
- 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
- Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.Journal of human genetics · 2026Article
- Article
- Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.Nature medicine · 2026Article
- Beyond the Flush: Reframing ALDH2 Deficiency as a Public Health Risk.Public health genomics · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene.Cell genomics · 2025Article
- Article
49 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Understanding natural selection is crucial to unveiling evolution of modern humans. Here, we report natural selection signatures in the Japanese population using 2234 high-depth whole-genome sequence (WGS) data (25.9×). Using rare singletons, we identify signals of very recent selection for the past 2000-3000 years in multiple loci (ADH cluster, MHC region, BRAP-ALDH2, SERHL2). In large-scale genome-wide association study (GWAS) dataset (n = 171,176), variants with selection signatures show enrichment in heterogeneity of derived allele frequency spectra among the geographic regions of Japan, highlighted by two major regional clusters (Hondo and Ryukyu). While the selection signatures do not show enrichment in archaic hominin-derived genome sequences, they overlap with the SNPs associated with the modern human traits. The strongest overlaps are observed for the alcohol or nutrition metabolism-related traits. Our study illustrates the value of high-depth WGS to understand evolution and their relationship with disease risk.
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