两足动物
遗传建筑学
生物
进化生物学
人类基因组
生命银行
遗传学
人体躯干
基因
基因组
数量性状位点
解剖
作者
Eucharist Kun,Emily Javan,Olivia S. Smith,Faris F Gulamali,de la Fuente J,Brianna I. Flynn,Kushal Vajrala,Zoe Trutner,Prakash Jayakumar,Elliot M. Tucker‐Drob,Mashaal Sohail,Tarjinder Singh,Vagheesh M. Narasimhan
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2023-07-21
卷期号:381 (6655)
被引量:3
标识
DOI:10.1126/science.adf8009
摘要
The human skeletal form underlies bipedalism, but the genetic basis of skeletal proportions (SPs) is not well characterized. We applied deep-learning models to 31,221 x-rays from the UK Biobank to extract a comprehensive set of SPs, which were associated with 145 independent loci genome-wide. Structural equation modeling suggested that limb proportions exhibited strong genetic sharing but were independent of width and torso proportions. Polygenic score analysis identified specific associations between osteoarthritis and hip and knee SPs. In contrast to other traits, SP loci were enriched in human accelerated regions and in regulatory elements of genes that are differentially expressed between humans and great apes. Combined, our work identifies specific genetic variants that affect the skeletal form and ties a major evolutionary facet of human anatomical change to pathogenesis.
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