Variant "IL6:c.-572C/G"
Search result: 1 record
Variant information
Gene:
IL6 
Variant:
IL6:c.-572C/G 
Genomic location:
chr7:22766246(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000600.4:c.-636G>C
protein_coding NM_001318095.1:c.-2084G>C
pseudogene NR_131935.1:n.132C>G
dbSNP ID:
rs1800796  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Alzheimer's Disease (DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.73, 95% CI=0.62-0.86 
    Effect:
    Genotype CC of IL-6-174 G/C and genotype GG plus GC of IL-6-572 C/G could decrease the risk of AD.
    Reference:
    PMID22701584
    Title:
    IL-6-174 G/C and -572 C/G polymorphisms and risk of Alzheimer's disease.
    Species studied:
    Human
    Abstract:
    Associations between interleukin 6 (IL-6) polymorphisms and Alzheimer's disease (AD) remain controversial and ambiguous. The aim of this meta-analysis is to explore more precise estimations for the relationship between IL-6-174 G/C and -572 C/G polymorphisms and risk for AD. Electronic searches for all publications in databases PubMed and EMBASE were conducted on the associations between IL-6 polymorphisms and risk for AD until January 2012. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated using fixed and random effects models. Twenty-seven studies were included with a total of 19,135 individuals, involving 6,632 AD patients and 12,503 controls. For IL-6-174 G/C polymorphism, the combined results showed significant differences in recessive model (CC vs. CG+GG: OR=0.65, 95%CI=0.52-0.82). As regards IL-6-572 C/G polymorphism, significant associations were shown in dominant model (CG+GG vs. CC: OR=0.73, 95% CI=0.62-0.86) and in additive model (GG vs. CC, OR=0.66, 95% CI=0.46-0.96). In conclusion, genotype CC of IL-6-174 G/C and genotype GG plus GC of IL-6-572 C/G could decrease the risk of AD.