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

Conclusions: 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.
PMID: 33105104 [PubMed - in process]

Source: European Journal of Endocrinology - October 28, 2020 Category: Endocrinology Authors: Hoi-Yee Li G, Cheung CL, Zhao SX, Song HD, Wai-Chee Kung A Tags: Eur J Endocrinol Source Type: research