SNP CommunicationEleven Novel Single Nucleotide Polymorphisms in the NRH2 (PXR) Gene, Pour of which Induce Non-synonymous Amino Acid Alterations
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Cited by (37)
Relationship between NR1I2 polymorphisms and inflammatory bowel disease risk: A systematic review and meta-analysis
2017, Clinics and Research in Hepatology and GastroenterologyCitation Excerpt :It was reported that aberrant NR1I2 transcriptional activity was associated with the development of IBD, and the NR1I2 protein might be a novel target for IBD therapy [11,42–44]. Certain host NR1I2 genetic variants might take part in the regulation of the expression of target genes such as cytochrome P-450 monooxygenase 3A4 (CYP3A4) through affecting the secondary structure of the NR1I2 protein and the binding affinities for antagonistic ligands [15,45–47]. Hence, although no genetic correlations between NR1I2 variants and IBD risk were observed, we cannot rule out the potential roles of NR1I2 polymorphisms in the susceptibility to IBD.
A comprehensive analysis and functional characterization of naturally occurring non-synonymous variants of nuclear receptor PXR
2016, Biochimica et Biophysica Acta - Gene Regulatory MechanismsTryptophan 299 is a conserved residue of human pregnane X receptor critical for the functional consequence of ligand binding
2016, Biochemical PharmacologyCitation Excerpt :These PXR protein variants may play a role in CYP3A4 expression and may be involved in altered sensitivities to carcinogens or atypical responses to drugs [37]. Interestingly, some of the previously identified naturally occurring variants (V140M, R148Q, D163G, R381W, A370T and I403V) are located within or close to the LBD of PXR [37–40]. However, no naturally occurring mutation of W299 has been reported.
Influence of a critical single nucleotide polymorphism on nuclear receptor PXR-promoter function
2017, Cell Biology International
On October 11 2002, these SNPs were not found in “A database of Japanese Single Nucleotide Polymorphisms (http://snp.ims.u-tokyo.ac.jp/)” and “dbSNP in the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/SNP/)”, or “The Human Gene Mutation Database (http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html)”. This study was supported in part by the Program for the Promotion of Fundamental Studies in Health Sciences (MPJ-2, 3, 5 and 6) of the Organization for Pharmaceutical Safety and Research (OPSR) of Japan.