Variant "IL6R:c.86-1657G>T"
Search result: 1 record
Variant information
Gene:
Variant:
IL6R:c.86-1657G>T 
Genomic location:
chr1:154400015(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000565.3:c.86-1657G>T
protein_coding NM_001206866.1:c.86-1657G>T
protein_coding NM_181359.2:c.86-1657G>T
dbSNP ID:
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail:
  • Target disease:
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0058, P corrected = 0.026 
    Effect:
    IL6R SNP was more significantly associated with joint damage between the two IL-6R SNPs with the degree of joint destruction in RA.
    Reference:
    Title:
    Variation at interleukin-6 receptor gene is associated to joint damage in rheumatoid arthritis.
    Species studied:
    Human
    Abstract:
    Interleukin-6 (IL-6) cytokine signaling is key in Rheumatoid Arthritis (RA) pathophysiology. Blocking IL-6 receptor (IL6R) has proven to be a highly effective treatment to prevent joint damage. This study was performed to investigate the association between the genetic variation at IL6R gene and the severity of joint damage in RA.