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

doi:10.1002/prp2.820

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Article

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

Pharmacology research & perspectives - 1 Oct 2021

Pasta Andrea, Borro Paolo, Cremonini Anna Laura, Formisano Elena, Tozzi Giulia, Cecchi Stefano, Fresa Raffaele, Labanca Sara, Djahandideh Afscin, Sukkar Samir Giuseppe, Picciotto Antonino, Pisciotta Livia

Abstract excerpt

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...

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PMID: 34476902
DOI: 10.1002/prp2.820
PMCID: PMC8413903

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LIPA

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