Variant "IL4R:c.1507T>C(p.Ser503Pro)"
Search result: 1 record
Variant information
Gene:
IL4R 
Variant:
IL4R:c.1507T>C(p.Ser503Pro) 
Genomic location:
chr16:27374180(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000418.3:c.1507T>C(p.Ser503Pro)
protein_coding NM_001257406.1:c.1507T>C(p.Ser503Pro)
protein_coding NM_001257407.1:c.1462T>C(p.Ser488Pro)
protein_coding NM_001257997.1:c.1027T>C(p.Ser343Pro)
dbSNP ID:
rs1805015  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Pleiotropy(1)  
Modifier effect:
Altered stroke susceptibility(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered stroke susceptibility 
    Evidence:
    A 3-way interaction test in 2 (IL4R) × 2 (TNF) × 3 (stroke subgroups) log-linear model: log likelihood ratio statistic = 6.719; degrees of freedom = 2; P=0.035. 
    Effect:
    The IL4R 503P allelic variant was specifically associated with an increased stroke risk in the LV stroke subgroup.
    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.