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First genome-wide association study of 99 body measures derived from 3-dimensional body scans
Genes & Diseases ( IF 6.9 ) Pub Date : 2021-02-16 , DOI: 10.1016/j.gendis.2021.02.003
Andreas Kühnapfel 1 , Peter Ahnert 1 , Katrin Horn 1, 2 , Holger Kirsten 1, 2 , Markus Loeffler 1, 2 , Markus Scholz 1, 2, 3
Affiliation  

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.



中文翻译:

首次对来自 3 维身体扫描的 99 种身体测量值进行全基因组关联研究

身高、体重指数、臀围和腰围是具有复杂基础遗传学的临床和流行病学研究中的重要风险因素或结果变量。然而,这些经典的人体测量学特征仅代表了对人体非常有限的观点,其他具有潜在更高功能特异性的特征尚未得到更广泛的研究。LIFE-Adult 的参与者通过三维人体扫描仪 VITUS XXL 进行评估,并行确定 99 个高质量的人体测量特征。通过 Axiom Genome-Wide CEU 1 Array Plate 微阵列技术进行基因分型,并使用 1000 Genomes 3 期参考面板进行插补。共有 7,562 名参与者可以获得综合表型和遗传信息。2 = 44% 的颈部高度)和 61 个性状的值大于 20%。通过全基因组分析,我们确定了与 99 个性状中的至少一个相关的 16 个位点。到目前为止,这些基因座中的 10 个尚未被描述为与经典人体测量特征相关。对于后宽度性状的 7p14.3 (rs11979006, P  = 2.12 × 10 -9 ),观察到最强的新关联,其中ZNRF2作为最合理的候选基因。为与经典人体测量特征关联而建立的基因座进行了人体测量表型关联分析。在报告的 709 个基因座中,211 个与身体扫描特征相关(富集:OR  = 1.96,P  = 1.08 × 10-61 )。我们得出结论,基于 3D 激光的人体测量学遗传学有望识别新基因座并提高对已建立基因座的功能理解。

更新日期:2021-02-16
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