rs2274131

This variant is located in the CYP24A1 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (2)

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Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients
AssociationN=522Abul Kalam Azad et al.(2013)· International Journal of Cancer

This study examined 89 genetic sequence variants in six vitamin D metabolism pathway genes (VDR, GC, CYP24A1, CYP27A1, CYP27B1, CYP2R1) in 522 early-stage head and neck cancer patients to assess associations with overall survival and second primary cancer risk. GC rs4588 and CYP2R1 rs10500804 were associated with lower serum vitamin D levels. CYP24A1 rs2296241 (aHR 1.23, p=0.05) was significantly associated with worse overall survival, while CYP2R1 rs1993116 (aHR 0.59, p=0.001) was protective against second primary cancer, independent of serum vitamin D levels.

Traits studied:Head and neck cancerOverall survivalSecond primary cancerSerum vitamin D level
PubMedDOIMetascience Observatory
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A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer
AssociationN=34Ramnath N. et al.(2013)· Cancer Chemotherapy and Pharmacology

A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol combined with cisplatin and docetaxel in 34 advanced non-small-cell lung cancer patients. The recommended phase II dose was 60 mcg/m² every 21 days. CYP24A1 SNP rs2762939 and rs3787554 were analyzed for associations with overall survival and progression-free survival using univariate Cox regression models, though associations did not reach statistical significance (rs2762939: p=0.29 OS, p=0.70 PFS; rs3787554: p=0.13 OS, p=0.30 PFS). Functional SNPs in CYP24A1 may inform future studies for individualizing calcitriol therapy.

Traits studied:Drug toxicityNon-small-cell lung cancerOverall survivalProgression-free survivalResponse to calcitriol therapy
PubMedDOIMetascience Observatory

About CYP24A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all CYP24A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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