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성균관대학교 삼성융합의과학원, 삼성서울병원

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Nat. Commun., Jun 07 2024, 15 (1) 4874 | https://doi.org/10.1038/s41467-024-49031-4 Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color

Beomsu Kim^1,6, Dan Say Kim^1,6, Joong-Gon Shin^2,6, Sangseob Leem^2,6, Minyoung Cho¹, Hanji Kim², Ki-Nam Gu², Jung Yeon Seo², Seung Won You², Alicia R. Martin^3,4, Sun Gyoo Park², Yunkwan Kim², Choongwon Jeong⁵, Nae Gyu Kang^2,7 & Hong-Hee Won^1,7

¹Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul 06351, Republic of Korea.

²Research and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul 07795, Republic of Korea.

³Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

⁴Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02141, USA.

⁵School of Biological Sciences, Seoul National University, Seoul 08826, Republic of Korea.

⁶These authors contributed equally: Beomsu Kim, Dan Say Kim, Joong-Gon Shin, Sangseob Leem.

⁷These authors jointly supervised this work: Nae Gyu Kang, Hong-Hee Won.

Corresponding authors

Correspondence to Nae Gyu Kang or Hong-Hee Won.

Abstract

Evidence for adaptation of human skin color to regional ultraviolet radiation suggests shared and distinct genetic variants across populations. However, skin color evolution and genetics in East Asians are understudied. We quantified skin color in 48,433 East Asians using image analysis and identified associated genetic variants and potential causal genes for skin color as well as their polygenic interplay with sun exposure. This genome-wide association study (GWAS) identified 12 known and 11 previously unreported loci and SNP-based heritability was 23-24%. Potential causal genes were determined through the identification of nonsynonymous variants, colocalization with gene expression in skin tissues, and expression levels in melanocytes. Genomic loci associated with pigmentation in East Asians substantially diverged from European populations, and we detected signatures of polygenic adaptation. This large GWAS for objectively quantified skin color in an East Asian population improves understanding of the genetic architecture and polygenic adaptation of skin color and prioritizes potential causal genes.

논문정보

형식Research article
게재일2024년 06월 (BRIC 등록일 2024-06-10)
연구진국내(교신)+국외 연구진
분야 의약학 > 유전 및 유전체의학

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