Basic information of CTLA4 :

Official Symbol of Gene	CTLA4
Species	Homo sapiens
Entrez Gene ID	1493
Official Full Name	cytotoxic T-lymphocyte associated protein 4
Also known as	CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000163599 MIM:123890; AllianceGenome:HGNC:2505
Map Location	2q33.2
Variation Type	exon 1 dimorphism
refSNP ID	( + 49)A/G

Sample information of multiple sclerosis:

Detected Sample	EDTA blood
Sample Detail	N/A
Detected Method	AD-PCR
Disease	MS
Disease subtype	PPMS
Population	German
Sample Size	330 unselected adult German MS patients

Literature information of multiple sclerosis :

Pubmed ID	12458055
Year	2002
Title	CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis

Results of multiple sclerosis :

Risk Type	Phenotypic risk
Main Result	Positive
Result	No differences in the allelic distribution of the G49 allele between multiple sclerosis (MS) patients and the control group was found. However, the G49 allele occurred in a significant higher percentage of patients with primary progressive MS compared to patients with bout onset of disease
Mechanism/Pathway	ysregulation of CTLA4-driven down-regulation of T-cell function due a genetic dimorphism in exon