rs12221497
This is a 5 prime utr variant variant in the NR1H3 gene.
▶Research that mentions this SNP (1)
▶Genetic variation within the NR1H2 gene encoding liver X receptor β associates with insulin secretion in subjects at increased risk for type 2 diabetesAssociationN=1,574Caroline Ketterer et al.(2011)· Journal of Molecular Medicine
In 1,574 subjects of European ancestry at high risk for type 2 diabetes, genetic variation in the NR1H2 gene (encoding liver X receptor β) was associated with impaired insulin secretion. The SNP rs2248949 showed significant association with insulin secretion during IVGTT (p=0.007) in a dominant model, with minor allele carriers showing 26% reduced insulin secretion. NR1H2 rs1405655 was also associated with first-phase insulin secretion (p=0.003), and NR1H3 rs11039149 associated with proinsulin conversion to insulin.
About NR1H3
The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
View all NR1H3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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