Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

Masahiro Kanai, Masato Akiyama, Atsushi Takahashi, Nana Matoba, Yukihide Momozawa, Masashi Ikeda, Nakao Iwata, Shiro Ikegawa, Makoto Hirata, Koichi Matsuda, Michiaki Kubo, Yukinori Okada, Yoichiro Kamatani

Nature Genetics · 2018

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Summary

This large-scale genetic study of the Japanese population identified 679 novel genetic loci associated with quantitative traits and investigated pleiotropy across complex diseases. By integrating 32 GWAS datasets, the authors demonstrated that genetic variants underlying clinical measurements reflect their biological relevance to disease, revealing both shared polygenic architecture and cell-type specificity. The findings suggest that genetic approaches can illuminate disease aetiology without prior knowledge of cross-phenotype relationships.

UK applicability

The findings are primarily based on Japanese ancestry populations and may have limited direct applicability to UK populations due to allele frequency and linkage disequilibrium differences. However, the methodological approach and identification of cell-type-specific genetic effects could inform similar studies in UK biobanks and contribute to understanding conserved genetic mechanisms across ancestries.

Key measures

Genetic loci associated with quantitative traits; pleiotropy and genetic correlations across traits and diseases; cell-type specificity; polygenic effects

Outcomes reported

The study identified 679 novel genetic loci associated with quantitative traits through large-scale GWAS in Japanese individuals. The research demonstrated shared polygenic effects and cell-type specificity linking clinical measurements to complex diseases.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Genome-wide association study (GWAS) with cross-phenotype integration
Source type
Peer-reviewed study
Status
Published
Geography
Japan
System type
Human clinical
DOI
10.1038/s41588-018-0047-6
Catalogue ID
SNmoj1xzzm-ak1swr

Topic tags

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