rs112731226 - RNF175

Magnitude 2.0 · 1 study on file

Reported associations

• Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population - Nature communications (2024) · Vanneste M, Hoskens H, Goovaerts S, Matthews H, Devine J, Aponte JD, Cole J, Shriver M, Marazita ML, Weinberg SM, Walsh S, Richmond S, Klein OD, Spritz RA, Peeters H, Hallgrímsson B, Claes P · PubMed 39622794

  ABSTRACT: Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the general population. We compare three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores. Multivariate GWAS of the control scores reveals a polygenic basis for facial variation along an achondroplasia-specific shape axis, identifying genes primarily involved in skeletal development. Joint

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