rs7643645
This is a intron variant variant in the NR1I2 gene.
▶Research that mentions this SNP (3)
▶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.
▶Possible contribution of GSTP1 and other xenobiotic metabolizing genes to vitiligo susceptibilityAssociationN=200Mikhail M. Minashkin et al.(2013)· Archives of Dermatological Research
A candidate gene association study in 100 Russian vitiligo patients and 100 controls identified a strong novel association between GSTP1 rs1138272 (Ala114Val, OR=13.03, Bonferroni-adjusted P=0.0015) and vitiligo susceptibility. Cumulative analysis of multiple xenobiotic metabolizing genes showed that carrying higher numbers of risk alleles was associated with increased vitiligo risk (9-16 vs 3-8 alleles: OR=2.79, P=0.00063), supporting a polygenic model for vitiligo involving detoxification pathway genes.
▶Association of warfarin dose with genes involved in its action and metabolismAssociationN=201Mia Wadelius et al.(2007)· Human Genetics
An association study of 201 warfarin-treated patients found that polymorphisms in VKORC1, CYP2C9, CYP2C18, CYP2C19, PROC, and APOE were significantly associated with warfarin dose requirement (P < 0.000175 for VKORC1 and CYP2C9). A multiple regression model incorporating VKORC1, CYP2C9, PROC, and non-genetic factors (age, bodyweight, drug interactions, treatment indication) accounted for 62% of the variance in warfarin dose.
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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