The genetic variant I148M in PNPLA3 is associated with increased hepatic retinyl-palmitate storage in humans.
CONCLUSIONS: The increased content of hepatic retinyl-palmitate and the reduced ratio of retinol/retinyl-palmitate in PNPLA3 I148M minor allele carriers support in vitro findings of an altered retinyl-palmitate lipase activity. Our results indicate that the PNPLA3 I148M variant is relevant for the retinyl-palmitate content in human liver providing a possible link to chronic liver disease.
PMID: 26439088 [PubMed - as supplied by publisher]
Source: Diabetes Metab - Category: Endocrinology Authors: Kovarova M, Königsrainer I, Königsrainer A, Machicao F, Häring HU, Schleicher E, Peter A Tags: J Clin Endocrinol Metab Source Type: research
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