Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.
Pharmacol Res Perspect
; 9(5): e00820, 2021 10.
Article
en En
| MEDLINE
| ID: mdl-34476902
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Esterol Esterasa
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Dislipidemias
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Hipoalfalipoproteinemias
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Enfermedad del Hígado Graso no Alcohólico
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Hiperlipidemias
Tipo de estudio:
Observational_studies
Límite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Pharmacol Res Perspect
Año:
2021
Tipo del documento:
Article
País de afiliación:
Italia