rs2248949
This is a intron variant variant in the NR1H2 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 NR1H2
The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
View all NR1H2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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