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PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic Fatty Liver Disease or Obesity ,
Author(s) -
Alison M. Mondul,
Rosellina Margherita Mancina,
Andrea Merlo,
Paola Dongiovanni,
Raffaela Rametta,
Tiziana Montalcini,
Luca Valenti,
Demetrius Albanes,
Stefano Romeo
Publication year - 2015
Publication title -
journal of nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.463
H-Index - 265
eISSN - 1541-6100
pISSN - 0022-3166
DOI - 10.3945/jn.115.210633
Subject(s) - retinol , medicine , nonalcoholic fatty liver disease , endocrinology , overweight , obesity , vitamin , fatty liver , chemistry , disease
Retinol is a lipid-soluble essential nutrient that is stored as retinyl esters in lipid droplets of hepatic stellate cells. Patatin-like phospholipase domain-containing 3 (PNPLA3), through its retinyl-palmitate lipase activity, releases retinol from lipid droplets in hepatic stellate cells in vitro and ex vivo. We have shown that the genetic variant I148M (rs738409) reduces the PNPLA3 retinyl-palmitate lipase activity.

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