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 samplesVariantsMapping genes for human face shape: Exploration of univariate phenotyping strategies.
Yuan M, Goovaerts S, Vanneste M, Matthews H, Hoskens H, Richmond S, Klein O, Spritz R, Hallgrimsson B, Walsh S, Shriver M, Shaffer J, Weinberg S, Peeters H, Claes P. Mapping genes for human face shape: Exploration of univariate phenotyping strategies. PLOS Computational Biology 2024, 20: e1012617. PMID: 39621772, DOI: 10.1371/journal.pcbi.1012617.Peer-Reviewed Original ResearchGenome-wide association studiesMultiple genome-wide association studiesPhenotyping strategiesSNP-based heritabilityInter-landmark distancesLD score regressionFacial gestaltMap genesGenetic lociAssociation studiesCraniofacial shapeUnivariate traitsMorphological traitsEuropean ancestryScore regressionLow heritabilityPhenotyping approachFacial resemblanceFacial shapePhenotypeGenetic factorsTraitsHuman face shapeHeritabilityGenetic influences