rs12721607
This is a protein-altering variant in the NR1I2 gene.
▶Research that mentions this SNP (1)
▶Pregnane X receptor (PXR/NR1I2) gene haplotypes modulate susceptibility to inflammatory bowel diseaseAssociationN=2,823Jürgen Glas et al.(2011)· Inflammatory Bowel Diseases
A large case-control association study of 2,823 Caucasian individuals examined eight PXR/NR1I2 gene variants in 859 Crohn's disease (CD) and 464 ulcerative colitis (UC) patients versus 1,500 controls. Single SNP rs2276707 showed weak association with UC (P=0.01; OR 1.27 [1.06-1.52]), but multiple rare PXR haplotypes demonstrated strong associations with CD susceptibility (strongest omnibus P=6.50×10⁻¹⁵), suggesting PXR variants contribute to disease risk in specific IBD subgroups.
About NR1I2
This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]
View all NR1I2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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