Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Devine J, Aponte J, Cole J, Shriver M, Marazita M, Weinberg S, Walsh S, Richmond S, Klein O, Spritz R, Peeters H, Hallgrímsson B, Claes P. Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. Nature Communications 2024, 15: 10458. PMID: 39622794, PMCID: PMC11612227, DOI: 10.1038/s41467-024-54839-1.Peer-Reviewed Original ResearchConceptsMultivariate GWASMendelian phenotypesComplex traitsPolygenic backgroundMendelian disordersPolygenic basisGenetic variationGenetic variantsGenetic intersectionAchondroplasia phenotypePhenotypic spectrumPhenotypeGenesSkeletal developmentShape axesCraniofacial shapeGWASFacial variationsThree-dimensional facial scansGeneral populationTraitsControl scoresVariationControl samplesVariants