Impact of vitamin D and vitamin D receptor TaqI polymorphism in primary human myoblasts.

ABSTRACT: The CC-genotype of the VDR polymorphism TaqI rs731236 has previously been associated with a higher risk of developing myopathy compared to TT-carriers. However, the mechanistic role of this polymorphism in skeletal muscle is not well defined. The effects of vitamin D on patients genotyped for the VDR polymorphism TaqI rs731236, comparing CC and TT-carriers were evaluated. Primary human myoblasts isolated from 4 CC-carriers were compared with myoblasts isolated from 4 TT-carriers and treated with vitamin D in vitro. A dose-dependent inhibitory effect on myoblast proliferation and differentiation was observed concurrent with modifications of key myogenic regulatory factors. RNA-sequencing revealed a Vitamin D dose-response gene signature enriched with a higher number of VDR-responsive elemen

SUBMITTER: Saini A 

PROVIDER: S-EPMC6652245 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature