Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.

Autor: Pasta A; Department of Internal Medicine, University of Genoa, Genoa, Italy., Borro P; Gastroenterology Unit, Department of Internal Medicine, IRCCS Ospedale Policlinico San Martino, University of Genoa, Genoa, Italy., Cremonini AL; Dietetics and Clinical Nutrition Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Formisano E; Nutritional Unit ASL-1 Imperiese, Giovanni Borea Civil Hospital, Sanremo, Italy., Tozzi G; Division of Metabolism and Research Unit of Metabolic Biochemistry, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Cecchi S; Hepatology, Gastroenterology and Nutrition Unit, IRCCS 'Bambino Gesù' Children's Hospital, Rome, Italy., Fresa R; Department of Internal Medicine, University of Genoa, Genoa, Italy., Labanca S; Gastroenterology Unit, Department of Internal Medicine, IRCCS Ospedale Policlinico San Martino, University of Genoa, Genoa, Italy., Djahandideh A; Gastroenterology Unit, Department of Internal Medicine, IRCCS Ospedale Policlinico San Martino, University of Genoa, Genoa, Italy., Sukkar SG; Dietetics and Clinical Nutrition Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Picciotto A; Department of Internal Medicine, University of Genoa, Genoa, Italy.; Gastroenterology Unit, Department of Internal Medicine, IRCCS Ospedale Policlinico San Martino, University of Genoa, Genoa, Italy., Pisciotta L; Department of Internal Medicine, University of Genoa, Genoa, Italy.; Dietetics and Clinical Nutrition Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Jazyk: angličtina
Zdroj: Pharmacology research & perspectives [Pharmacol Res Perspect] 2021 Oct; Vol. 9 (5), pp. e00820.
DOI: 10.1002/prp2.820
Abstrakt: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease characterized by hypoalphalipoproteinemia, mixed hyperlipemia, and fatty liver (FL) due to mutations in LIPAse A, lysosomal acid type (LIPA) gene. The rs1051338 single-nucleotide polymorphism (SNP) in LIPA gene, in vitro, could adversely affect the LAL activity (LAL-A). Nonalcoholic fatty liver disease (NAFLD) is often associated with metabolic syndrome, and the diagnosis requires the exclusion of excess of alcohol intake and other causes of hepatic disease. The aim of the study was to evaluate the impact of rs1051338 rare allele on lipid phenotype, severity of FL, and LAL-A in patients suffering from dyslipidemia associated with NAFLD. We selected 74 subjects with hypoalphalipoproteinemia or mixed hyperlipemia and evaluated transaminases, liver assessment with controlled attenuation parameter (CAP), LAL-A, rs1051338 SNP genotype. The presence of rare allele caused higher levels of triglycerides and hepatic transaminase and lower levels of high-density lipoprotein cholesterol (HDL-C). Multivariate analysis highlighted independent association between rare allele and FL severity in subjects with NAFLD. The rs1051338 SNP may modulate FL severity and atherogenic dyslipidemia in patients suffering from NAFLD.
(© 2021 The Authors. Pharmacology Research & Perspectives published by British Pharmacological Society and American Society for Pharmacology and Experimental Therapeutics and John Wiley & Sons Ltd.)
Databáze: MEDLINE
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