4.8 Article

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

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SCIENCE ADVANCES
卷 7, 期 6, 页码 -

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AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/sciadv.abc6160

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资金

  1. National Natural Science Foundation of China [31771393]
  2. Scientific and Technology Committee of Shanghai Municipality [18490750300]
  3. Ministry of Science and Technology of China [2020YFE0201600]
  4. Shanghai Municipal Science and Technology Major Project [2017SHZDZX01]
  5. 111 Project [B13016]
  6. Leverhulme Trust [F/07 134/DF]
  7. BBSRC [BB/I021213/1]
  8. Excellence Initiative of Aix-Marseille University-A*MIDEX (a French Investissements d'Avenir program)
  9. Universidad de Antioquia
  10. Conselho Nacional de Desenvolvimento Cientifico e Tecnologico
  11. Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (Apoio a Nucleos de Excelencia Program)
  12. Fundacao de Aperfeicoamento de Pessoal de Nivel Superior
  13. National Institute of Dental and Craniofacial Research [R01-DE027023, U01-DE020078, R01-DE016148, X01-HG007821]
  14. Santander Research and Scholarship Award
  15. Ecole Doctorale 251 Aix-Marseille Universite
  16. BBSRC [BB/I021213/1] Funding Source: UKRI

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By conducting a genome-wide association study, the genetic basis of facial features in Latin Americans was characterized, revealing significant associations between 32 traits and 32 different genomic regions, with enrichment in regulatory sequences active during craniofacial development. The study also identified nine previously unknown face morphology loci, including the VPS13B gene region affecting midfacial morphology in mice.
To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and similar to 9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.

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