Gene "VCAM1"
Found 2 records
Gene information
Gene symbol:
VCAM1
See related:
Ensembl: ENSG00000162692, Gene ID: 7412
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(1) ,Penetrance(1)  
Modifier effect:
Altered incidence(1) ,Risk factor(1)  
Details：
  • Variant 1:
    VCAM1:p.Gly1238Cys
    Gene:
    VCAM1
    Genomic location:
    dbSNP ID:
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=0.35, 95% CI: 0.15-0.83, P=0.04 
    Effect:
    The nonsynonymous SNP, VCAM1 G1238C, may be associated with protection from strok
    Reference:
    PMID12393616
    Title:
    Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease.
    Species studied:
    Human
    Abstract:
    Stroke is a major cause of morbidity and mortality in sickle cell (SS) disease. Genetic risk factors have been postulated to contribute to this clinical outcome. The human genome project has substantially increased the catalog of variations in genes, many of which could modify the risk for manifestations of disease outcome in a monogenic disease, namely SS. VCAM1 is a cell adhesion molecule postulated to play a critical role in the pathogenesis of SS disease. We identified a total of 33 single nucleotide polymorphisms (SNPs) by sequencing the entire coding region, 2134 bp upstream of the 5' end of the published cDNA, 217 bp downstream of the 3' end of the cDNA, and selected intronic regions of the VCAM1 locus. Allelic frequencies for selected SNPs were determined in a healthy population. We subsequently analyzed 4 nonsynonymous coding, 2 synonymous coding, and 4 common promoter SNPs in a genetic association study of clinically apparent stroke in SS disease conducted in a cohort derived from a single institution in Jamaica (51 symptomatic cases and 51 matched controls). Of the 10 candidate SNPs analyzed in this pilot study, the variant allele of the nonsynonymous SNP, VCAM1 G1238C, may be associated with protection from stroke (odds ratio [OR] 0.35, 95% confidence interval [CI] 0.15-0.83, P =.04). Further study is required to confirm the importance of this variant in VCAM1 as a clinically useful modifier of outcome in SS disease.
  • Variant 2:
    VCAM1:c.-1594T>C
    Gene:
    VCAM1
    Genomic location:
    chr1:101183825
    dbSNP ID:
    rs1041163
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Small-vessel stroke: or±se= 1.98 ± 0.43, P=0.002 
    Effect:
    Variants in the VCAM1 (-1594) and LDLR NcoI genes were associated with SV stroke risk. the VCAM1 (-1594)C variant was associated exclusively with risk for small-vessel stroke in our study population
    Reference:
    PMID14615367
    Title:
    Gene interactions and stroke risk in children with sickle cell anemia.
    Species studied:
    Human
    Abstract:
    Stroke is a devastating complication of sickle cell anemia (SCA), affecting up to 30% of children with the disease. Despite the relative frequency of stroke in SCA, few predictors of risk exist. Because stroke in SCA is likely a multifactorial disease, analysis of the combined effect of multiple genetic variants may prove more successful than evaluation of individual candidate genes. We genotyped 230 children with SCA for 104 polymorphisms among 65 candidate vascular genes to identify risk associations with stroke. Patients were phenotyped based on magnetic resonance imaging/angiography (MRI/MRA) findings into large-vessel (LV) versus small-vessel (SV) disease stroke subgroups. Specific polymorphisms in the IL4R 503, TNF (-308), and ADRB2 27 genes were independently associated with stroke susceptibility in the LV stroke subgroup, while variants in the VCAM1 (-1594) and LDLR NcoI genes were associated with SV stroke risk. The combination of TNF (-308)GG homozygosity and the IL4R 503P variant carrier status was associated with a particularly strong predisposition to LV stroke (odds ratio [OR] = 5.5; 95% confidence interval [CI] = 2.3-13.1). We show that several candidate genes may play a role in predisposition to specific stroke subtypes in children with SCA. If confirmed, these results provide a basis for population screening and targeted intervention to prevent stroke in SCA.