rs1004164 - RUNX1

Magnitude 2.0 · 1 study on file

Reported associations

• Genetic variants underlying differences in facial morphology in East Asian and European populations. - Nature genetics (2022) · Zhang M, Wu S, Du S, Qian W, Chen J, Qiao L, Yang Y, Tan J, Yuan Z, Peng Q, Liu Y, Navarro N, Tang K, Ruiz-Linares A, Wang J, Claes P, Jin L, Li J, Wang S · PubMed 35393595

  Facial morphology-a conspicuous feature of human appearance-is highly heritable. Previous studies on the genetic basis of facial morphology were performed mainly in European-ancestry cohorts (EUR). Applying a data-driven phenotyping and multivariate genome-wide scanning protocol to a large collection of three-dimensional facial images of individuals with East Asian ancestry (EAS), we identified 244 variants in 166 loci (62 new) associated with typical-range facial variation. A newly proposed polygenic shape analysis indicates that the effects of the variants on facial shape in EAS can be generalized to EUR. Based on this, we further identified 13 variants related to differences between facial shape in EUR and EAS populations. Evolutionary analyses suggest that the difference in nose shape

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