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First genome-wide association study of 99 body measures derived from 3-dimensional body scans

Genes & Diseases 2022年第3期9卷 777-788页

作者： Andreas Kuhnapfel Peter Ahnert Katrin Horn holger kirsten Markus Loeffler Markus Scholz Institute for Medical Informatics Statistics and Epidemiology(IMISE)Medical FacultyLeipzig UniversityHartelstrafte 16-18Leipzig 04107Germany LIFE Research Center for Civilization Diseases Medical FacultyLeipzig UniversityPhilipp-Rosenthal-Strafie 27Leipzig 04103Germany Integrated Research and Treatment Center(IFB) Adiposity DiseasesUniversity Medical CenterLeipzig UniversityPhilipp-Rosenthal-Strafle 27Leipzig 04103Germany

Body height,body mass index,hip and waist circumference are important risk factors or outcome variables in clinical and epidemiological research with complex underlying ***,these classical anthropometric traits represent only a very limited view on the human body and other traits with potentially higher functional specificity are not yet studied to a larger *** of LIFE-Adult were assessed by three-dimensional body scanner VITUS XXL determining 99 high-quality anthropometric traits in *** was performed by Axiom Genome-Wide CEU 1 Array Plate microarray technology and imputation was done using 1000 Genomes phase 3 reference *** phenotype and genetic information are available for a total of 7,562 *** heritabilities were estimated for height traits(maximum heritability with h2=44%for neck height)and 61 traits achieved values larger than 20%.By genome-wide analyses,we identified 16 loci associated with at least one of the 99 *** of these loci were not described for association with classical anthropometric traits so *** strongest novel association was observed for 7p14.3(rs11979006,P=2.12×10^(-9))for the trait Back Width with ZNRF2 as the most plausible candidate *** established for association with classical anthropometric traits were subjected to anthropometric phenome-wide association *** the reported 709 loci,211 *** with body scanner traits(enrichment:OR=1.96,P=1.08×10^(-61)).We conclude that genetics of 3D laser-based anthropometry is promising to identify novel loci and to improve the functional understanding of established ones.

关键词： 3D-anthropometry Genetic correlation GWAS Heritability PheWAS

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