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

Abstract 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 v...

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Autores principales:	Andrea Pasta, Paolo Borro, Anna Laura Cremonini, Elena Formisano, Giulia Tozzi, Stefano Cecchi, Raffaele Fresa, Sara Labanca, Afscin Djahandideh, Samir Giuseppe Sukkar, Antonino Picciotto, Livia Pisciotta
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	controlled attenuation parameter hepatic steatosis LIPA gene NAFLD rs1051338 Therapeutics. Pharmacology RM1-950
Acceso en línea:	https://doaj.org/article/8dbd368162384f4ebf5e792b799f1d1a
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spelling	oai:doaj.org-article:8dbd368162384f4ebf5e792b799f1d1a2021-11-16T13:45:54ZEffect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study2052-170710.1002/prp2.820https://doaj.org/article/8dbd368162384f4ebf5e792b799f1d1a2021-10-01T00:00:00Zhttps://doi.org/10.1002/prp2.820https://doaj.org/toc/2052-1707Abstract 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.Andrea PastaPaolo BorroAnna Laura CremoniniElena FormisanoGiulia TozziStefano CecchiRaffaele FresaSara LabancaAfscin DjahandidehSamir Giuseppe SukkarAntonino PicciottoLivia PisciottaWileyarticlecontrolled attenuation parameterhepatic steatosisLIPA geneNAFLDrs1051338Therapeutics. PharmacologyRM1-950ENPharmacology Research & Perspectives, Vol 9, Iss 5, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	controlled attenuation parameter hepatic steatosis LIPA gene NAFLD rs1051338 Therapeutics. Pharmacology RM1-950
spellingShingle	controlled attenuation parameter hepatic steatosis LIPA gene NAFLD rs1051338 Therapeutics. Pharmacology RM1-950 Andrea Pasta Paolo Borro Anna Laura Cremonini Elena Formisano Giulia Tozzi Stefano Cecchi Raffaele Fresa Sara Labanca Afscin Djahandideh Samir Giuseppe Sukkar Antonino Picciotto Livia Pisciotta Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
description	Abstract 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.
format	article
author	Andrea Pasta Paolo Borro Anna Laura Cremonini Elena Formisano Giulia Tozzi Stefano Cecchi Raffaele Fresa Sara Labanca Afscin Djahandideh Samir Giuseppe Sukkar Antonino Picciotto Livia Pisciotta
author_facet	Andrea Pasta Paolo Borro Anna Laura Cremonini Elena Formisano Giulia Tozzi Stefano Cecchi Raffaele Fresa Sara Labanca Afscin Djahandideh Samir Giuseppe Sukkar Antonino Picciotto Livia Pisciotta
author_sort	Andrea Pasta
title	Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
title_short	Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
title_full	Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
title_fullStr	Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
title_full_unstemmed	Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
title_sort	effect of a common missense variant in lipa gene on fatty liver disease and lipid phenotype: new perspectives from a single‐center observational study
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/8dbd368162384f4ebf5e792b799f1d1a
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Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study

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