A Comprehensive Review of Genome-Wide Association Studies of Human Hair Traits

    Carli D. Needle, Anna Brinks, Olivia D. Perez, Jerry Shapiro, Kristen I. Lo Sicco, Aristotelis Tsirigos, Lynn Petukhova
    TLDR Genetic studies on hair traits can improve understanding of health and disease.
    This review compiles findings from genome-wide association studies (GWASs) on human hair traits, revealing genetic overlaps between hair traits and disease genes, which can enhance understanding of health and disease. It highlights studies on various hair traits, such as female hairiness, beard thickness, and hair morphology, identifying specific genetic loci. For example, a GWAS on female hairiness in 11,311 Japanese women found three loci linked to hair density, while a study on beard thickness in 2,922 Latin American males identified four candidate genes. A meta-analysis with 28,964 participants identified 8 new loci for hair curliness, and hair color studies with over 350,000 individuals found more than 200 genetic variants. The review emphasizes the pleiotropy of genes like EDAR and suggests future research could benefit from advanced imaging technologies and larger cohort studies. It also calls for experimental validation of GWAS findings to improve clinical applications and generate new hypotheses.
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