rs1057868
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | normal | |
| (T;T) | 1.6 | 1.6x higher overall CYP3A activity |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 75985688 |
| Gene | POR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057868 |
| dbSNP (classic) | rs1057868 |
| ClinGen | rs1057868 |
| ebi | rs1057868 |
| HLI | rs1057868 |
| Exac | rs1057868 |
| Gnomad | rs1057868 |
| Varsome | rs1057868 |
| LitVar | rs1057868 |
| Map | rs1057868 |
| PheGenI | rs1057868 |
| Biobank | rs1057868 |
| 1000 genomes | rs1057868 |
| hgdp | rs1057868 |
| ensembl | rs1057868 |
| geneview | rs1057868 |
| scholar | rs1057868 |
| rs1057868 | |
| pharmgkb | rs1057868 |
| gwascentral | rs1057868 |
| openSNP | rs1057868 |
| 23andMe | rs1057868 |
| SNPshot | rs1057868 |
| SNPdbe | rs1057868 |
| MSV3d | rs1057868 |
| GWAS Ctlg | rs1057868 |
| GMAF | 0.2879 |
| Max Magnitude | 1.6 |
rs1057868, also known as A503V, is a relatively common variant defining the POR*28 allele of the P450 (cytochrome) oxidoreductase POR gene. The POR gene encodes a protein involved in electron transport of cytochrome p450 enzymes such as CYP3A4, CYP3A5 and CYP3A7.
A study of 251 individuals from two independent studies (182 patients treated with methadone and 69 patients with clozapine) for CYP3A activity found that CYP3A SNPs themselves did not predict particularly well inter-individual variability in overall CYP3A activity. However, rs1057868(T;T) individuals had a 1.6x increased CYP3A activity compared to rs1057868(C) carriers (n=182, p=0.004), and the finding was replicated in a second independent dataset. The authors conclude that this POR gene SNP is a better predictor of overall CYP3A activity than CYP3A SNPs.[PMID 19801957]
[PMID 21770725] The P450 oxidoreductase *28 SNP is associated with low initial tacrolimus exposure and increased dose requirements in CYP3A5-expressing renal recipients
[PMID 17827787] Novel SNPs in cytochrome P450 oxidoreductase.
[PMID 18230729
] Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.
[PMID 22246422] Influence of cytochrome P450 oxidoreductase genetic polymorphisms on CYP1A2 activity and inducibility by smoking.
[PMID 24113216] Single-nucleotide polymorphisms in P450 oxidoreductase and peroxisome proliferator-activated receptor-α are associated with the development of new-onset diabetes after transplantation in kidney transplant recipients treated with tacrolimus
[PMID 24921414] Impact of PPARA and POR polymorphisms on tacrolimus pharmacokinetics and new-onset diabetes in kidney transplant recipients
[PMID 26580670] Effects of the selected cytochrome P450 oxidoreductase genetic polymorphisms on cytochrome P450 2B6 activity as measured by bupropion hydroxylation
| ClinVar | |
|---|---|
| Risk | Rs1057868(T;T) |
| Alt | Rs1057868(T;T) |
| Reference | Rs1057868(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| Variation | info |
| Gene | POR |
| CLNDBN | not specified Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.75615006C>T |
| CLNSRC | |
| CLNACC | RCV000251974.1, RCV000405449.1, |
[PMID 27660057] Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population.
