Kühnapfel Andreas, Ahnert Peter, Horn Katrin, Kirsten Holger, Loeffler Markus, Scholz Markus
Institute for Medical Informatics, Statistics and Epidemiology (IMISE), Medical Faculty, Leipzig University, Härtelstraße 16-18, Leipzig 04107, Germany.
LIFE Research Center for Civilization Diseases, Medical Faculty, Leipzig University, Philipp-Rosenthal-Straße 27, Leipzig 04103, Germany.
Genes Dis. 2021 Feb 16;9(3):777-788. doi: 10.1016/j.gendis.2021.02.003. eCollection 2022 May.
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 h = 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, = 2.12 × 10) for the trait with 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: = 1.96, = 1.08 × 10). We conclude that genetics of 3D laser-based anthropometry is promising to identify novel loci and to improve the functional understanding of established ones.
身高、体重指数、臀围和腰围是临床和流行病学研究中重要的风险因素或结果变量，其潜在的遗传学基础较为复杂。然而，这些经典的人体测量特征对人体的描述非常有限，其他可能具有更高功能特异性的特征尚未得到充分研究。LIFE-成人研究的参与者通过三维人体扫描仪VITUS XXL进行评估，同时测定99个高质量的人体测量特征。基因分型采用Axiom全基因组CEU 1阵列板微阵列技术，并使用千人基因组计划第三阶段参考面板进行插补。共有7562名参与者的联合表型和遗传信息可用。身高特征的遗传力估计最高（颈部高度的最大遗传力h = 44%），61个特征的值大于20%。通过全基因组分析，我们确定了16个与99个特征中的至少一个相关的基因座。其中10个基因座迄今为止尚未被描述与经典人体测量特征相关。在7p14.3（rs11979006，= 2.12 × 10）处观察到最强的新关联，该特征以 为最可能的候选基因。已确定与经典人体测量特征相关的基因座进行了人体测量全表型关联分析。在报告的709个基因座中，211个与人体扫描仪特征共同相关（富集：= 1.96，= 1.08 × 10）。我们得出结论，基于三维激光的人体测量学遗传学有望识别新的基因座，并提高对已确定基因座的功能理解。
