ArticleDiabetologia2013
Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels.
Article in Diabetologia, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Meta-analyses of the association of G6PC2 allele variants with elevated fasting glucose and type 2 diabetes.PloS one · 2017Pooled it
- Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.PLoS genetics · 2015Pooled it
- Alternative Splicing Regulation in Metabolic Disorders.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- G6PC2 controls glucagon secretion by defining the set point for glucose in pancreatic α cells.Science translational medicine · 2025Article
- Multiple promoter and enhancer differences likely contribute to augmented G6PC2 expression in human versus mouse pancreatic islet alpha cells.Journal of molecular endocrinology · 2024Article
- Biochemical and metabolic characterization of a G6PC2 inhibitor.Biochimie · 2024Article
- Identification of structural motifs critical for human G6PC2 function informed by sequence analysis and an AlphaFold2-predicted model.Bioscience reports · 2024Article
- Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.International journal of molecular sciences · 2022Review
- Regulatory roles and mechanisms of alternative RNA splicing in adipogenesis and human metabolic health.Cell & bioscience · 2021Review
- Glucose metabolism-related gene polymorphisms as the risk predictors of type 2 diabetes.Diabetology & metabolic syndrome · 2020Review
- G6PC2 confers protection against hypoglycemia upon ketogenic diet feeding and prolonged fasting.Molecular metabolism · 2020Article
- Pancreatic islet beta cell-specific deletion of G6pc2 reduces fasting blood glucose.Journal of molecular endocrinology · 2020Article
- Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.PLoS genetics · 2018Article
- Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium.Diabetologia · 2017Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
- Effects ofJournal of molecular endocrinology · 2017Article
- Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection.BMC evolutionary biology · 2017Article
- G6PC2 Modulates the Effects of Dexamethasone on Fasting Blood Glucose and Glucose Tolerance.Endocrinology · 2016Article
- Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.Nature genetics · 2016Article
- G6PC2 Modulates Fasting Blood Glucose In Male Mice in Response to Stress.Endocrinology · 2016Article
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 3 countries.
Funding
Abstract
aims/hypothesisWe previously identified the G6PC2 locus as a strong determinant of fasting plasma glucose (FPG) and showed that a common G6PC2 intronic single nucleotide polymorphism (SNP) (rs560887) and two common G6PC2 promoter SNPs (rs573225 and rs13431652) are highly associated with FPG. However, these promoter SNPs have complex effects on G6PC2 fusion gene expression, and our data suggested that only rs13431652 is a potentially causative SNP. Here we examine the effect of rs560887 on G6PC2 pre-mRNA splicing and the contribution of an additional common G6PC2 promoter SNP, rs2232316, to the association signal.
methodsMinigene analyses were used to characterise the effect of rs560887 on G6PC2 pre-mRNA splicing. Fusion gene and gel retardation analyses characterised the effect of rs2232316 on G6PC2 promoter activity and transcription factor binding. The genetic association of rs2232316 with FPG variation was assessed using regression adjusted for age, sex and BMI in 4,220 Europeans with normal FPG.
resultsThe rs560887-G allele was shown to enhance G6PC2 pre-mRNA splicing, whereas the rs2232316-A allele enhanced G6PC2 transcription by promoting Foxa2 binding. Genetic analyses provide evidence for association of the rs2232316-A allele with increased FPG (β = 0.04 mmol/l; p = 4.3 × 10(-3)) as part of the same signal as rs560887, rs573225 and rs13431652. CONCLUSIONS/
interpretationAs with rs13431652, the in situ functional data with rs560887 and rs2232316 are in accord with the putative function of G6PC2 in pancreatic islets, and suggest that all three are potentially causative SNPs that contribute to the association between G6PC2 and FPG.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.