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Basic information of BIRC5 :

Official Symbol of Gene BIRC5
Species Homo sapiens
Entrez Gene ID 332
Official Full Name baculoviral IAP repeat containing 5
Also known as API4; EPR-1
Gene Type protein coding
dbXrefs Ensembl:ENSG00000089685 MIM:603352; AllianceGenome:HGNC:593
Map Location 17q25.3
Variation Type SNP
refSNP ID rs9904341

Sample information of multiple sclerosis:

Detected Sample blood
Sample Detail N/A
Detected Method Real-time PCR
Disease MS
Disease subtype RRMS
Population N/A
Sample Size 200 RRMS patients,200 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 31438837
Year 2019
Title Genetic polymorphisms and epigenetic regulation of survivin encoding gene, BIRC5, in multiple sclerosis patients

Results of multiple sclerosis :

Risk Type phenotypics risk
Main Result Positive
Result It was observed that the C allele (OR = 1.38, 95% CI = 1.05–1.348, P = 0.022) and CC genotype (OR = 1.84,95% CI = 1.06–3.19; P = 0.029) in the rs9904341 polymorphism increased the disease risk.
Mechanism/Pathway The rs9904341 SNP was associated with increased mRNA and protein expressions of survi vin in cancers.