Variant "IL21:c.-2498G>A"
Search result: 1 record
Variant information
Gene:
IL21 
Variant:
IL21:c.-2498G>A 
Genomic location:
chr4:123544664(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_021803.3:c.-2498G>A
protein_coding NM_001207006.2:c.-2498G>A
pseudogene NR_104126.1:n.1040-1161C>T
dbSNP ID:
rs12508721  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Thyroid Cancer (DOID_1781)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    CT: OR=0.72; 95% CI: 0.57-0.94; TT: OR=0.56; 95% CI: 0.41-0.87 
    Effect:
    That rs12508721 polymorphism in IL-21 might be a genetic modifier for the development of thyroid cancer.
    Reference:
    PMID24389496
    Title:
    Interleukin (IL)-21 promoter polymorphism increases the risk of thyroid cancer in Chinese population.
    Species studied:
    Human
    Abstract:
    Polymorphisms in Interleukin (IL)-21 have been researched in several cancers, but the association between IL-21 polymorphisms and thyroid cancer remains unclarified. This case-control study explored the role of five tagSNPs (rs12508721C>T, rs907715G>A, rs13143866G>A, rs2221903A>G and rs4833837A>G) in IL-21 gene in thyroid cancer development. IL-21 genotypes were examined in 615 thyroid cancer patients and 600 controls in Chinese population, and the associations with the risk of thyroid cancer were estimated by logistic regression. Moreover, the potential role of rs12508721C>T in thyroid cancer was further explored by biochemical assays. Compared with the rs12508721CC genotype, CT genotype presented a significantly decreased risk of thyroid cancer (adjusted odds ratios [OR]=0.72; 95%CI=0.57-0.94), the TT carriers had a further decreased risk of thyroid cancer (OR=0.56; 95%CI=0.41-0.87). Furthermore, our quantitative real-time PCR and Enzyme-linked immunosorbent assay (ELISA) results demonstrated that the presence of rs12508721T allele led to more IL-21 expression. However, no significant difference was found in genotype frequencies for other four sites between cases and controls. These findings suggested that rs12508721 polymorphism in IL-21 might be a genetic modifier for the development of thyroid cancer.