Open AccessEffect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study
Author(s) -
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
Publication year - 2021
Publication title -
pharmacology research and perspectives
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.975
H-Index - 27
ISSN - 2052-1707
DOI - 10.1002/prp2.820
Subject(s) - dyslipidemia , nonalcoholic fatty liver disease , fatty liver , medicine , single nucleotide polymorphism , genotype , snp , endocrinology , gastroenterology , biology , disease , genetics , gene
Lysosomal acid lipase deficiency (LAL‐D) is an autosomal recessive disease characterized by hypoalphalipoproteinemia, mixed hyperlipemia, and fatty liver (FL) due to mutations in LIPA se 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.