rs3732360
This is a downstream gene variant variant in the NR1I2 gene.
▶Research that mentions this SNP (1)
▶Influence of a critical single nucleotide polymorphism on nuclear receptor PXR‐promoter functionAssociationN=746Manjul Rana et al.(2017)· Cell Biology International
Case-control study of 746 Han Chinese tuberculosis patients (118 with anti-tuberculosis drug-induced liver injury [ATDILI], 628 without) genotyped for 9 SNPs in PXR and NFKB1. The T allele of rs3814055 in PXR was associated with decreased ATDILI risk (OR 0.61; 95% CI 0.42-0.89, p=0.0098), while T alleles of rs78872571 and rs4647992 in NFKB1 were associated with increased ATDILI risk (OR 1.91, p=0.028 and OR 1.81, p=0.029, respectively). This was the first study to report associations between these genetic variants and ATDILI susceptibility in a Han Chinese population.
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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