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rs1057868

Chromosome : 7 , Position: 75985688
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleC
Alternative Alleles:  T

Traits

Trait Variant Impact PMID Author (year)
Caffeine consumption from coffee T
J Am Heart Assoc Said MA (2020)
Total testosterone levels T
Nat Med Ruth KS (2020)
Coffee intake T
Unknown journal UKB Neale v2 (2018)
Coffee consumption T
Hum Mol Genet Zhong VW (2019)
Bitter non-alcoholic beverage consumption T
Hum Mol Genet Zhong VW (2019)
Eosinophil percentage of white cells T
Cell Vuckovic D (2020)
Urinary albumin-to-creatinine ratio T
Nat Commun Teumer A (2019)
Platelet count T
Cell Chen MH (2020)

Summary

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

More Information

T allele carriers in renal allograft recepients had lower tacrolimus levels in the first days post-transplantation and reached target levels significantly later as compared with CC homozygous patients. The T allele carriers had significantly higher tacrolimus dose requirements throughout the first year [R].

 

Population Alleles Frequency

ethhicity frequency
African/African-American 0.1818
Latino/Admixed American 0.2589
Ashkenazi Jewish 0.2552
East Asian 0.3813
European 0.2949
Other (population not assigned) 0.3122

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