Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
Abstract Inherited genetic variants in tumour suppressors and oncogenes can increase the cancer risk, but little is known about their influence on anthropometric traits. Through the integration of inherited and somatic cancer genetic data, we define functional single nucleotide polymorphisms (SNPs) associated with cancer risk and explore potential pleiotropic associations with anthropometic traits in a cohort of 500,000 individuals. We identify three regulatory SNPs for three important cancer genes that associate with both anthropometric traits and cancer risk. We describe a novel association of a SNP in TP53 (rs78378222) with height, lean body mass measures and basal metabolic rate, as well as validating its known associations with brain and non-melanomatous skin cancer susceptibility. Our results clearly demonstrate that heritable variants in key cancer genes can associate with both differential cancer risk and anthropometric traits in the general population, thereby lending support for a role of genetics in linking these human phenotypes.
Stracquadanio Giovanni、Blagden Sarah、Bond Gareth、Harris David A.、Buffa Francesca M.、Sahgal Natasha、Kitchen-Smith Isaac、Di Giovannantonio Matteo、Wallace Marsha、Lord Simon、Harris Adrian L.、Zhang Ping、Harris Benjamin H.L、Xiong Lingyun
Ludwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research BuildingEarly Phase Clinical Trials Unit, Department of OncologyLudwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research BuildingSt Anne?ˉs CollegeComputational Biology and Integrative Genomics, Department of Oncology, University of OxfordLudwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research BuildingLudwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research BuildingLudwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research BuildingLudwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research BuildingEarly Phase Clinical Trials Unit, Department of OncologyMolecular Oncology Laboratories, Department of Oncology, The Weatherall Institute of Molecular Medicine, University of OxfordLudwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research BuildingComputational Biology and Integrative Genomics, Department of Oncology, University of OxfordLudwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building
肿瘤学遗传学基础医学
Stracquadanio Giovanni,Blagden Sarah,Bond Gareth,Harris David A.,Buffa Francesca M.,Sahgal Natasha,Kitchen-Smith Isaac,Di Giovannantonio Matteo,Wallace Marsha,Lord Simon,Harris Adrian L.,Zhang Ping,Harris Benjamin H.L,Xiong Lingyun.Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits[EB/OL].(2025-03-28)[2025-06-18].https://www.biorxiv.org/content/10.1101/827634.点此复制
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