Association of 3p27.1 Variants with Whole Body Lean Mass Identified by a Genome-wide Association Study

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)....

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Bibliographic Details
Published in:Scientific reports 2020-03, Vol.10 (1), p.4293-4293, Article 4293
Main Authors: Ran, Shu, Zhang, Yu-Xue, Liu, Lu, Jiang, Zi-Xuan, He, Xiao, Liu, Yu, Shen, Hui, Tian, Qing, Pei, Yu-Fang, Deng, Hong-Wen, Zhang, Lei
Format: Article
Language:English
Subjects:
45/43
631/208/205/2138
692/499
Bioinformatics
Body Composition
Chromosome 3
Chromosomes, Human, Pair 3 - genetics
Female
Genetic Loci
Genetics
Genome-wide association studies
Genome-Wide Association Study - methods
Genomes
Humanities and Social Sciences
Humans
Male
Middle Aged
multidisciplinary
Myoblasts
Osteoporosis
Phenotype
Polymorphism, Single Nucleotide
Sarcopenia
Sarcopenia - genetics
Sarcopenia - pathology
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
Skeletal muscle
Thinness - genetics
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Summary: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.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-020-61272-z