ArticleInternational journal of obesity (2005)2019
Metabolic effects of genetic variation in the human REPIN1 gene.
Article in International journal of obesity (2005), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- High Consumption of Ultra-Processed Foods Is Associated with Genome-Wide DNA Methylation Differences in Women: A Pilot Study.Nutrients · 2025Observational
- Co-expression network of mRNA and DNA methylation in first-episode and drug-naive adolescents with major depressive disorder.Frontiers in psychiatry · 2023Article
- A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease.Clinical and translational gastroenterology · 2020Article
- Repin1 deficiency in liver tissue alleviates NAFLD progression in mice.Journal of advanced research · 2019Article
- Liver-specific Repin1 deficiency impairs transient hepatic steatosis in liver regeneration.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundReplication initiator 1 (Repin1) is a zinc finger protein highly expressed in liver and adipose tissue. The Repin1 resides within a quantitative trait locus (QTL) for body weight and triglyceride levels in the rat, and its hepatic deletion in mice results in improved insulin sensitivity and lower body weight. Here, we analyzed whether genetic variation within the Repin1 affects parameters of glucose and lipid metabolism.
methodsWe sequenced REPIN1 in 48 non-related Caucasian subjects. We discovered a 12 base pair deletion (12 bp del; rs3832490), which was subsequently genotyped in two well-characterized cohorts (N = 3013) to test for associations with metabolic traits. Functional consequences of the variant were investigated in HepG2 cells in vitro.
resultsIn human cohorts, we show that the 12 bp del associates with improved glucose metabolism (lower fasting plasma glucose, fasting plasma insulin, and HOMA IR). Cells transfected with the plasmid carrying the 12 bp del variant are characterized by increased GLUT2 and fatty acid translocase CD36 expression and more lipid droplets.
conclusionOur data suggest that genetic variation in human REPIN1 plays a role in glucose and lipid metabolism by differentially affecting the expression of REPIN1 target genes including glucose and fatty acid transporters.
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