rs736824
This is a upstream gene variant variant in the HNF4A gene.
▶ClinVar annotation
Maturity onset diabetes mellitus in young (MODY)
View on ClinVar →▶Research that mentions this SNP (1)
▶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).
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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