Investigating the genetic susceptibility to exertional heat illness.

Lois GardnerDorota M MillerCatherine DalyPawan K GuptaCarol HouseDaniel Roiz de SaMarie-Anne ShawPhilip M Hopkins

Published in: Journal of medical genetics (2020)

We confirm a role of RYR1 in the heritability of EHI as well as ER but highlight the likely genetic heterogeneity of these complex conditions. We propose defects, or combinations of defects, in skeletal muscle calcium homeostasis, oxidative metabolism and membrane excitability are associated with EHI.

Keyphrases

skeletal muscle
genome wide
heat stress
copy number
insulin resistance
type diabetes
dna methylation
gene expression
adipose tissue