Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Box 256, 751 05, Uppsala, Sweden.
Nat Commun. 2019 Jan 21;10(1):339. doi: 10.1038/s41467-018-08000-4.
Body mass and body fat composition are of clinical interest due to their links to cardiovascular- and metabolic diseases. Fat stored in the trunk has been suggested to be more pathogenic compared to fat stored in other compartments. In this study, we perform genome-wide association studies (GWAS) for the proportion of body fat distributed to the arms, legs and trunk estimated from segmental bio-electrical impedance analysis (sBIA) for 362,499 individuals from the UK Biobank. 98 independent associations with body fat distribution are identified, 29 that have not previously been associated with anthropometric traits. A high degree of sex-heterogeneity is observed and the effects of 37 associated variants are stronger in females compared to males. Our findings also implicate that body fat distribution in females involves mesenchyme derived tissues and cell types, female endocrine tissues as well as extracellular matrix maintenance and remodeling.
由于与心血管和代谢疾病有关，人体体重和体脂肪组成一直是临床关注的重点。与储存在其他部位的脂肪相比，储存在躯干中的脂肪被认为更具致病性。在这项研究中，我们对来自英国生物库的 362499 个人进行了基于节段生物电阻抗分析（sBIA）估计的手臂、腿部和躯干体脂肪分布比例的全基因组关联研究（GWAS）。鉴定出 98 个与体脂肪分布相关的独立关联，其中 29 个与人体测量特征以前没有关联。观察到高度的性别异质性，与 37 个相关变体相关的影响在女性中比男性更强。我们的研究结果还表明，女性的体脂肪分布涉及间充质衍生组织和细胞类型、女性内分泌组织以及细胞外基质的维持和重塑。
