rs2232316
This variant is located in the G6PC2 gene.
▶Research that mentions this SNP (2)
▶Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levelsFunctionalN=4,220Baerenwald DA et al.(2013)· Diabetologia
This study identifies multiple functional polymorphisms in the G6PC2 gene that contribute to fasting plasma glucose (FPG) levels. The rs560887-G allele enhances G6PC2 pre-mRNA splicing, while the rs2232316-A allele enhances G6PC2 transcription (β=0.04 mmol/l, p=4.3×10⁻³), and the rs2232321-G allele also promotes exon 4 inclusion. All three SNPs are identified as potentially causative variants that contribute to the association between G6PC2 and elevated FPG in pancreatic beta cells.
▶A genetic variant of G6PC2 is associated with type 2 diabetes and fasting plasma glucose level in the Chinese populationAssociationN=3,676Hu C. et al.(2009)· Diabetologia
This case-control association study of 3,676 Shanghai Chinese individuals (1,876 cases, 1,800 controls) identified rs16856187 in G6PC2 as associated with type 2 diabetes (p=0.0009, OR=1.191) and fasting plasma glucose level (β=0.067 mmol/l per C allele, p=0.0002). This SNP differs from the European-associated variants rs560887 and rs563694, suggesting population-specific genetic architecture in G6PC2.
About G6PC2
This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
View all G6PC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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