Genome-wide meta-analysis reveals novel susceptibility loci for thyrotoxic periodic paralysis.

Gloria Hoi-Yee LiChing-Lung CheungShuang-Xia ZhaoHuai-Dong SongAnnie Wai-Chee Kung

Published in: European journal of endocrinology (2020)

We identified two novel TPP risk loci near TRIM2 and AC140912.1. While rare mutations in TRIM2 and KCNJ2 were implicated in monogenic disorders characterized by muscle paralysis, our study suggested common variants near these genes might dysregulate gene expression and lead to milder phenotypes.

Keyphrases

genome wide
dna methylation
gene expression
copy number
systematic review
skeletal muscle
meta analyses
genome wide association study
randomized controlled trial
transcription factor
case control