Abstract

Whole body lean mass (WBLM) is a heritable trait predicting sarcopenia. To identify genomic locus underlying WBLM, we performed a genome-wide association study of fat-adjusted WBLM in the Framingham Heart Study (FHS, N = 6,004), and replicated in the Kansas City Osteoporosis Study (KCOS, N = 2,207). We identified a novel locus 3p27.1 that was associated with WBLM (lead SNP rs3732593 P = 7.19 × 10−8) in the discovery FHS sample, and the lead SNP was successfully replicated in the KCOS sample (one-sided P = 0.04). Bioinformatics analysis found that this SNP and its adjacent SNPs had the function of regulating enhancer activity in skeletal muscle myoblasts cells, further confirming the regulation of WBLM by this locus. Our finding provides new insight into the genetics of WBLM and enhance our understanding of sarcopenia.

Details

Title
Association of 3p27.1 Variants with Whole Body Lean Mass Identified by a Genome-wide Association Study
Author
Shu, Ran 1 ; Yu-Xue, Zhang 1   VIAFID ORCID Logo  ; Liu, Lu 2 ; Zi-Xuan, Jiang 1 ; He, Xiao 1 ; Liu, Yu 1 ; Shen, Hui 3   VIAFID ORCID Logo  ; Tian Qing 3 ; Yu-Fang, Pei 4 ; Hong-Wen, Deng 3   VIAFID ORCID Logo  ; Zhang, Lei 5 

1  University of Shanghai for Science and Technology, School of Medical Instruments and Food Engineering, Shanghai, PR China (GRID:grid.267139.8) (ISNI:0000 0000 9188 055X) 
2  Kunshan Hospital of Traditional Chinese Medicine, Jiangsu, PR China (GRID:grid.267139.8) 
3  Tulane University School of Public Health and Tropical Medicine, Department of Biostatistics and Bioinformatics, New Orleans, USA (GRID:grid.265219.b) (ISNI:0000 0001 2217 8588) 
4  Soochow University, Department of Epidemiology and Statistics, School of Public Health, Jiangsu, PR China (GRID:grid.265219.b); Soochow University, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Jiangsu, PR China (GRID:grid.265219.b) 
5  Soochow University, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Jiangsu, PR China (GRID:grid.265219.b); Soochow University, Center for Genetic Epidemiology and Genomics, School of Public Health, Jiangsu, PR China (GRID:grid.265219.b) 
Publication year
2020
Publication date
2020
Publisher
Nature Publishing Group
e-ISSN
20452322
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41598-020-61272-z
ProQuest document ID
2375481195
Copyright
This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.