Variant "CTLA4:c.+49A/G(p.Thr17Ala)"
Search results: 2 records
Variant information
Gene:
CTLA4 
Variant:
CTLA4:c.+49A/G(p.Thr17Ala) 
Genomic location:
chr2:204732714(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_005214.4:c.49A>G(p.Thr17Ala)
protein_coding NM_001037631.2:c.49A>G(p.Thr17Ala)
dbSNP ID:
rs231775  
GWAS trait:
alopecia areata 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Target disease:
    Primary Progressive Multiple Sclerosis (DOID_0050784)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.36; 95% CI: 1.11-1.81; P=0.038 
    Effect:
    The CTLA4 +49 A/G and 3'UTR polymorphisms as potential modifiers of disease course in MS.
    Reference:
    PMID17524498
    Title:
    CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland.
    Species studied:
    Human
    Abstract:
    Four CTLA4 polymorphisms were investigated in a Northern Irish collection of relapsing-remitting (RR) and primary-progressive (PP) multiple sclerosis (MS) patients. The CTLA4 promoter (-318 C/T), exon 1 (+49 A/G) and intergenic CT60 SNPs, as well as a microsatellite found in the 3' UTR (AT(n)) were analysed in 246 RRMS, 84 PPMS and 158 healthy controls. The A allele of the exon 1 +49 A/G SNP (OR=1.36; 95% CI=1.11-1.81; P=0.038), and more so the AA genotype (OR=1.70; 95% CI=1.11-2.60; P=0.015) were associated with RR, but not PPMS. In the PPMS population, overall allele distribution of the AT(n) microsatellite was significantly different from that in the healthy controls. We did not find any association with the promoter (-318 C/T) or intergenic CT60 SNPs in either of the disease cohorts. In concordance with several recent studies, we detected a trend toward higher carriage rates of the +49 G allele in PP vs RR MS patients (66.7% vs 58.9%), though this was not significant. Our data highlight the CTLA4 +49 A/G and 3'UTR polymorphisms as potential modifiers of disease course in MS.
  • Target disease:
    Relapsing-Remitting Multiple Sclerosis (DOID_2378)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.36; 95% CI: 1.11-1.81; P=0.038 
    Effect:
    The CTLA4 +49 A/G and 3'UTR polymorphisms as potential modifiers of disease course in MS.
    Reference:
    PMID17524498
    Title:
    CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland.
    Species studied:
    Human
    Abstract:
    Four CTLA4 polymorphisms were investigated in a Northern Irish collection of relapsing-remitting (RR) and primary-progressive (PP) multiple sclerosis (MS) patients. The CTLA4 promoter (-318 C/T), exon 1 (+49 A/G) and intergenic CT60 SNPs, as well as a microsatellite found in the 3' UTR (AT(n)) were analysed in 246 RRMS, 84 PPMS and 158 healthy controls. The A allele of the exon 1 +49 A/G SNP (OR=1.36; 95% CI=1.11-1.81; P=0.038), and more so the AA genotype (OR=1.70; 95% CI=1.11-2.60; P=0.015) were associated with RR, but not PPMS. In the PPMS population, overall allele distribution of the AT(n) microsatellite was significantly different from that in the healthy controls. We did not find any association with the promoter (-318 C/T) or intergenic CT60 SNPs in either of the disease cohorts. In concordance with several recent studies, we detected a trend toward higher carriage rates of the +49 G allele in PP vs RR MS patients (66.7% vs 58.9%), though this was not significant. Our data highlight the CTLA4 +49 A/G and 3'UTR polymorphisms as potential modifiers of disease course in MS.