Скачать или смотреть Fatty liver allele was fixed in Neanderthals

To cite: Geier A, Trost J, Wang K, et al. PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans. Gut 2024;73:1008-1014.

Read the full article here:https://doi.org/10.1136/gutjnl-2023-3...

Objective: Fat deposition is modulated by environmental factors and genetic predisposition. Genome-wide association studies identified PNPLA3 p.I148M (rs738409) as a common variant that increases risk of developing liver steatosis. When and how this variant evolved in humans has not been studied to date.

Conclusion: Archaic human individuals exclusively carried a fixed PNPLA3 allele associated with fatty liver, whereas allele frequencies in modern human populations are variable even in the oldest samples. Our observation might underscore the advantage of fat storage in cold climate and particularly for Neanderthal under ice age conditions. The absent signals of natural selection during modern human history does not support the thrifty gene hypothesis in case of PNPLA3 p.I148M.