作者
Jedd Pratt, Laura Whitton, Anthony Ryan, Thorhildur Juliusdottir, Jackie Dolan, Judith Conroy, Marco Narici, Giuseppe De Vito, Colin Boreham
发表日期
2023/6
期刊
Geroscience
卷号
45
期号
3
页码范围
1289-1302
出版商
Springer International Publishing
简介
Although physiological data suggest that neuromuscular junction (NMJ) dysfunction is a principal mechanism underpinning sarcopenia, genetic studies have implicated few genes involved in NMJ function. Accordingly, we explored whether genes encoding agrin (AGRN) and neurotrypsin (PRSS12) were associated with sarcopenia phenotypes: muscle mass, strength and plasma C-terminal agrin fragment (CAF). PhenoScanner was used to determine if AGRN and/or PRSS12 variants had previously been implicated with sarcopenia phenotypes. For replication, we combined genotype from whole genome sequencing with phenotypic data from 6715 GenoFit participants aged 18–83 years. Dual energy X-ray absorptiometry assessed whole body lean mass (WBLM) and appendicular lean mass (ALM), hand dynamometry determined grip strength and ELISA measured plasma CAF in a subgroup (n = 260). Follow …
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