Abstract
Objectives:
We tested the hypothesis that a genetic deletion (Del) variant in the REPIN1 gene is associated with the severity of nonalcoholic fatty liver disease (NAFLD) in humans.
Methods:
Sixty-three donors of liver biopsies from individuals with obesity and different degrees of NAFLD and fibrosis were screened for a Del REPIN1 gene variant and liver REPIN1 mRNA expression.
Results:
In 8 homozygous Del carriers, we found significantly lower NAFLD activity and fibrosis scores compared with 55 wild-type allele carriers.
Discussion:
A Del variant of REPIN1 may be associated with a lower risk of the development of NAFLD.
MeSH terms
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Adult
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Alleles
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DNA-Binding Proteins / genetics*
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Female
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Gene Deletion
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Genetic Predisposition to Disease
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Homozygote
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Humans
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Liver Cirrhosis / etiology
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Liver Cirrhosis / genetics*
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Liver Cirrhosis / metabolism
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Liver Cirrhosis / pathology
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Male
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Middle Aged
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Non-alcoholic Fatty Liver Disease / complications
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Non-alcoholic Fatty Liver Disease / genetics*
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Non-alcoholic Fatty Liver Disease / metabolism
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Non-alcoholic Fatty Liver Disease / pathology
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Obesity / complications
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Protective Factors
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RNA, Messenger / metabolism*
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RNA-Binding Proteins / genetics*
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Severity of Illness Index
Substances
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DNA-Binding Proteins
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REPIN1 protein, human
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RNA, Messenger
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RNA-Binding Proteins