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Basic information of CASP9 :

Official Symbol of Gene CASP9
Species Homo sapiens
Entrez Gene ID 1511
Official Full Name caspase 9
Also known as MCH6; APAF3; APAF-3; PPP1R56; ICE-LAP6
Gene Type protein coding
dbXrefs Ensembl:ENSG00000132906 MIM:602234; AllianceGenome:HGNC:1511
Map Location 1p36.21
Variation Type Gene polymorphisms
refSNP ID CASP9 G/G

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population Italian population
Sample Size 295 MS cases and 295 controls

Literature information of multiple sclerosis :

Pubmed ID 19359048
Year 2009
Title CASP-9: A susceptibility locus for multiple sclerosis in Italy

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result Our results suggest that the presence of the G/G genotype represents a higher risk factor in our MS population and a differential production of CASP-9 might be a contributory factor in determining the severity of MS
Mechanism/Pathway Caspase-9 is a primary effector CASP that executes programmed cell death, which plays an important role in the development of multiple sclerosis