Variant "IL10:c.-1082A/G"
Search results: 2 records
Variant information
Gene:
IL10 
Variant:
IL10:c.-1082A/G 
Genomic location:
chr1:206946897(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000572.2:c.-1117A>G
IL10-IL19:n.206946897T>C
dbSNP ID:
rs1800896  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered susceptibility(1) ,Altered onset time(1)  
Details：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    OR=1.0, 95% CI: 0.6–1.7, P=0.9 
    Effect:
    Associated with differences in age at which sputum was initially positive for either P. aeruginosa or B. cepacia
    Reference:
    PMID12554626
    Title:
    End-organ dysfunction in cystic fibrosis: association with angiotensin I converting enzyme and cytokine gene polymorphisms.
    Species studied:
    Human
    Abstract:
    The clinical course of patients with cystic fibrosis (CF) with functionally similar mutations in the CF transmembrane conductance regulator gene is variable and must therefore relate to secondary genetic and environmental factors. We examined the hypothesis that polymorphisms of certain inflammatory mediator and regulatory genes affect clinical outcome by influencing the degree of end-organ damage. By studying the possible association between clinical outcome and angiotensin I-converting enzyme (ACE) and cytokine genotypes by amplification refractory mutation system-polymerase chain reaction, using stored DNA from 261 white patients with CF, we found that ultrasound features of cirrhosis occurred more frequently in patients with the high-producer (DD) rather than the low-producer (II) ACE genotype (odds ratio [95% confidence interval], 3.7 [1.2 to 12]). Moreover, significant pulmonary dysfunction (age at which FEV1 < 50%) was associated with the high-producer ACE genotype (2.3 [1.2 to 4.5]) and transforming growth factor-beta1 genotype (2.6 [1.0 to 6.8]) as well as with age at first colonization with Pseudomonas aeruginosa (9.1 [1.1 to 72]). We conclude that the high-producer ACE genotype predicts patients with CF who have an increased chance of developing portal hypertension; and high-producer ACE and TGF-beta1 genotypes are secondary genetic factors contributing to pulmonary dysfunction in these patients.
  • Target disease:
    Systemic Lupus Erythematosus (DOID_9074)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    The IL10 -1082 locus appears to act as a significant modifier
    Reference:
    PMID29298134
    Title:
    The Synergistic Effect of TNFA and IL10 Promoter Polymorphisms on Genetic Predisposition to Systemic Lupus Erythematosus.
    Species studied:
    Human
    Abstract:
    We investigated the individual and combined effect of functional TNFA -308G/A and IL10 -1082G/A single nucleotide polymorphisms (SNPs) and their genotypes on the susceptibility to systemic lupus erythematosus (SLE) in a Bulgarian population.