rs2144908
This is a upstream gene 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.
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