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Basic information of SERPINE1 :

Official Symbol of Gene SERPINE1
Species Homo sapiens
Entrez Gene ID 5054
Official Full Name serpin family E member 1
Also known as PAI; PAI1; PAI-1; PLANH1
Gene Type protein coding
dbXrefs Ensembl:ENSG00000106366 MIM:173360; AllianceGenome:HGNC:8583
Map Location 7q22.1
Variation Type polymorphism
refSNP ID 5G5G

Sample information of multiple sclerosis:

Detected Sample blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype RRMS
Population Finnish patients
Sample Size 104 Finnish patients including 59 women and 45 men

Literature information of multiple sclerosis :

Pubmed ID 10802801
Year 2000
Title Plasminogen activator inhibitor 1 gene and risk of MS in women

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result Women with RRMS had the most significant increase in 5G5G genotype frequency (OR, 2.48; p 5 0.028).
Mechanism/Pathway Moreover, 4G and 5G alleles bind a transcriptional activator, but the 5G allele also binds a repressor protein to an overlapping site, which leads to a decreased basal level of PAI-1 transcription.