The genetic architecture of and evolutionary constraints on the human pelvic form

• 成果类型: Article
• 署名作者: Xu, Liaoyi; Kun, Eucharist; Pandey, Devansh; Wang, Joyce Y.; Brasil, Marianne F.; Singh, Tarjinder; Narasimhan, Vagheesh M.
• 署名单位: University of Texas System; University of Texas Austin; Western Washington University; Columbia University; NewYork-Presbyterian Hospital; Columbia University; University of Texas System; University of Texas Austin
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-13574
• DOI: 10.1126/science.adq1521
• 发表日期: 2025-04-10
• 页码: 168-+
• 关键词: walking speed; bony pelvis; dilemma; floor; association; mutations; mortality; anatomy; scapula; stature

摘要

Human pelvic evolution following the human-chimpanzee divergence is thought to result in an obstetrical dilemma, a mismatch between large infant brains and narrowed female birth canals, but empirical evidence has been equivocal. By using deep learning on 31,115 dual-energy x-ray absorptiometry scans from UK Biobank, we identified 180 loci associated with seven highly heritable pelvic phenotypes. Birth canal phenotypes showed sex-specific genetic architecture, aligning with reproductive function. Larger birth canals were linked to slower walking pace and reduced back pain but increased hip osteoarthritis risk, whereas narrower birth canals were associated with reduced pelvic floor disorder risk but increased obstructed labor risk. Lastly, genetic correlation between birth canal and head widths provides evidence of coevolution between the human pelvis and brain, partially mitigating the dilemma.