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

Andreas Kühnapfel; Peter Ahnert; Katrin Horn; Holger Kirsten; Markus Loeffler; Markus Scholz

doi:10.1016/j.gendis.2021.02.003

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

Genes Dis. 2021 Feb 16;9(3):777-788. doi: 10.1016/j.gendis.2021.02.003. eCollection 2022 May.

Authors

Andreas Kühnapfel¹, Peter Ahnert¹, Katrin Horn^{1

2}, Holger Kirsten^{1

2}, Markus Loeffler^{1

2}, Markus Scholz^{1

2

3}

Affiliations

¹ Institute for Medical Informatics, Statistics and Epidemiology (IMISE), Medical Faculty, Leipzig University, Härtelstraße 16-18, Leipzig 04107, Germany.
² LIFE Research Center for Civilization Diseases, Medical Faculty, Leipzig University, Philipp-Rosenthal-Straße 27, Leipzig 04103, Germany.
³ Integrated Research and Treatment Center (IFB), Adiposity Diseases, University Medical Center, Leipzig University, Philipp-Rosenthal-Straße 27, Leipzig 04103, Germany.

Abstract

Body height, body mass index, hip and waist circumference are important risk factors or outcome variables in clinical and epidemiological research with complex underlying genetics. However, 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 extent. Participants of LIFE-Adult were assessed by three-dimensional body scanner VITUS XXL determining 99 high-quality anthropometric traits in parallel. Genotyping was performed by Axiom Genome-Wide CEU 1 Array Plate microarray technology and imputation was done using 1000 Genomes phase 3 reference panel. Combined phenotype and genetic information are available for a total of 7,562 participants. Largest 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 traits. Ten of these loci were not described for association with classical anthropometric traits so far. The 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 gene. Loci established for association with classical anthropometric traits were subjected to anthropometric phenome-wide association analysis. From the reported 709 loci, 211 are co-associated 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.

Keywords: 3D-anthropometry; GWAS; Genetic correlation; Heritability; PheWAS.