期刊
PLOS ONE
卷 14, 期 5, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0217644
关键词
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资金
- British Heart Foundation (BHF) [RG/17/1/32663]
- National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC)
- United Kingdom's Medical Research Council [MC_UU_12015/1, MC_PC_13046, MC_PC_13048, MR/L00002/1]
- Academy of Finland, Centre of Excellence in Research on Mitochondria, Metabolism and Disease (FinMIT) [272376]
- Academy of Finland [314383, 266286]
- Finnish Medical Foundation (Suomen Laaketieteen Saatio)
- Gyllenberg Foundation
- Finnish Foundation for Cardiovascular Research (Sydantutkimussaatio)
- Novo Nordisk Foundation
- University of Helsinki
- Helsinki University Hospital
- Finnish Diabetes Research Foundation
- Diabetesliitto
- Wellcome Trust [WT083442AIA]
- Medical Research Council [MR/N003284/1]
- Cancer Research United Kingdom [14136]
- MRC [MC_UU_12015/1, MR/N003284/1] Funding Source: UKRI
Waist-to-hip ratio (WHR) is a prominent cardiometabolic risk factor that increases cardio-metabolic disease risk independently of BMI and for which multiple genetic loci have been identified. However, WHR is a relatively crude proxy for fat distribution and it does not capture all variation in fat distribution. We here present a study of the role of coding genetic variants on fat mass in 6 distinct regions of the body, based on dual-energy X-ray absorptiometry imaging on more than 17k participants. We find that the missense variant CCDC92(S70C), previously associated with WHR, is associated specifically increased leg fat mass and reduced visceral but not subcutaneous central fat. The minor allele-carrying transcript of CCDC92 is constitutively more highly expressed in adipose tissue samples. In addition, we identify two coding variants in SPATA20 and UQCC1 that are associated with arm fat mass. SPATA20(K422R) is a low-frequency variant with a large effect on arm fat only, and UQCC1(R51Q) is a common variant reaching significance for arm but showing similar trends in other subcutaneous fat depots. Our findings support the notion that different fat compartments are regulated by distinct genetic factors.
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