rs2425637
This is a regulatory region variant variant in the HNF4A gene.
▶Research that mentions this SNP (4)
▶Single nucleotide polymorphisms of the HNF4α gene are associated with the conversion to type 2 diabetes mellitus: the STOP-NIDDM trialAssociationN=769Laura Andrulionytė et al.(2006)· Journal of Molecular Medicine
This prospective association study examined eight HNF4A gene SNPs in 769 subjects from the STOP-NIDDM trial to determine their association with conversion from impaired glucose tolerance to type 2 diabetes. The authors found that rs4810424, rs2071197, and rs3818247 were significantly associated with diabetes risk, with rs4810424 showing a 1.7-fold elevated risk (OR 1.70, 95% CI 1.09-2.66, P=0.020) in female carriers of the C allele. A haplotype carrying all three risk alleles showed 5.28-fold increased diabetes risk (95% CI 1.79-15.52, P=0.003).
▶Common variants in MODY genes increase the risk of gestational diabetes mellitusAssociationN=1,880Shaat N. et al.(2006)· Diabetologia
This case-control study of 1,880 Scandinavian women (648 with gestational diabetes mellitus [GDM] and 1,232 controls) examined common variants in MODY genes. The GCK -30G→A polymorphism (rs1799884) showed increased GDM risk in an additive model (OR 1.28, 95% CI 1.06–1.53, p=0.008) and recessive model (OR 2.12, p=0.009). The HNF1A I27L polymorphism (rs1169288) showed modest increased risk with a dominant model (OR 1.31, p=0.007). Three HNF4A variants (rs2144908, rs2425637, rs1885088) were not associated with GDM risk.
▶Effect of common polymorphisms in the HNF4? promoter on susceptibility to type 2 diabetes in the French Caucasian populationAssociationN=1,430Vaxillaire M. et al.(2005)· Diabetologia
This case-control and family-based association study examined whether HNF4α promoter polymorphisms (rs2144908, rs1884614, rs6031552, rs2425637) associated with type 2 diabetes in Finnish and Ashkenazi Jewish populations confer disease risk in French Caucasians. In 744 type 2 diabetic patients and 686 controls, no significant association was found for rs6031552 or rs2425637, while rs2144908 showed the opposite effect (OR 0.80, p=0.022) compared to prior studies. Family-based linkage analysis in 148 diabetic families also did not support association.
▶Variation near the hepatocyte nuclear factor (HNF)-4? gene associates with type 2 diabetes in the Danish populationAssociationN=6,154Hansen SK et al.(2005)· Diabetologia
This association study replicated the finding that variation near the HNF4A gene associates with type 2 diabetes in the Danish population. The rs1884614 SNP, located 4 kb upstream of the HNF4A P2 promoter, showed significant association with type 2 diabetes (OR=1.14, p=0.02) and increased plasma glucose levels in glucose-tolerant subjects (post-OGTT p=0.05). Three other SNPs (rs2425637, rs1885088, rs3818247) tested negative for association.
About HNF4A
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
View all HNF4A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…