rs116065115
This variant is located in the CYP24A1 gene.
▶ClinVar annotation
not provided; Hypercalcemia, infantile, 1; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancerAssociationN=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.
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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