rs1464603
This variant is located in the NR1I2 gene.
▶Research that mentions this SNP (1)
▶Role of pharmacogenetics on adjuvant chemotherapy-induced neutropenia in Chinese breast cancer patientsAssociationN=311Nelson L. S. Tang et al.(2013)· Journal of Cancer Research and Clinical Oncology
This pharmacogenetic study examined SNPs in NR1I2, CYP3A4, and CYP3A5 genes in 311 Chinese breast cancer patients undergoing AC (doxorubicin/cyclophosphamide) chemotherapy. The CYP3A5*3 variant rs776746 showed strong association with grade 4 chemotherapy-induced neutropenia in multivariate analysis (OR=2.56, P=0.023), with a 3.14-fold increased risk in A-allele carriers with normal baseline ANC (P=0.004). The study demonstrates gene-environment interaction in chemotherapy toxicity prediction.
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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