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Basic information of CYP24A1 :

Official Symbol of Gene CYP24A1
Species Homo sapiens
Entrez Gene ID 1591
Official Full Name cytochrome P450 family 24 subfamily A member 1
Also known as CP24; HCAI; CYP24; HCINF1; P450-CC24
Gene Type protein coding
dbXrefs Ensembl:ENSG00000019186 MIM:126065; AllianceGenome:HGNC:2602
Map Location 20q13.2
Variation Type SNP
refSNP ID rs2762943

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail serum,pbmcs
Detected Method PCR
Disease MS
Disease subtype N/A
Population N/A
Sample Size 340 MS patients

Literature information of multiple sclerosis :

Pubmed ID 37183562
Year 2023
Title The CYP24A1 gene variant rs2762943 is associated with low serum 1,25-颅dihydroxyvitamin D levels in multiple sclerosis patients

Results of multiple sclerosis :

Risk Type Disease risk
Main Result up-regulation
Result The presence of the rs2762943 risk allele had no significant impact on disease activity and disability outcomes during follow-颅up. However, risk allele carriers were younger at disease onset (p = 0.04).
Mechanism/Pathway is associated with lower 1,25(OH)2D levels and a heightened pro-颅inflammatory environment in MS patients.