Key result
The IFNAR1 promoter polymorphism rs2843710 allele G was significantly associated with increased susceptibility to EV71 hand, foot, and mouth disease (OR 1.34) compared to allele C.
Why the study?
Does the rs2843710 polymorphism in the IFNAR1 gene affect susceptibility and severity of EV71 HFMD in Chinese children?
Case-Control (n=1,769)
No
Does the rs2843710 polymorphism in the IFNAR1 gene affect susceptibility and severity of EV71 HFMD in Chinese children?
Odds Ratio: 1.34 (95% CI 1.15–1.55)
p-value: p=0.0001
The rs2843710 polymorphism in the IFNAR1 gene is associated with increased susceptibility and severity of EV71 HFMD, likely by down-regulating interferon-stimulated genes.
Supports IFNAR1 variant research in pediatric HFMD; leaves open any role in risk stratification or management.
Enterovirus 71 (EV71), one of the major pathogens of Hand, foot and mouth disease (HFMD), results in millions of infections and hundreds of deaths each year in Southeast Asia. Biased infection and variable clinical manifestations of EV71 HFMD indicated that host genetic background played an important role in the occurrence and development of the disease. We identified the mRNA profiles of EV71 HFMD patients, which type I interferon (IFN) pathway related genes were down-regulated. Four single nucleotide polymorphisms (SNPs) of type I IFN receptor 1 (IFNAR1) were chosen to analyze their relationships to EV71 infection. We found that genotype GG of promoter variant rs2843710 was associated with the susceptibility and severity to EV71 HFMD. In addition, we assessed the regulatory effects of rs2843710 to IFN stimulated genes (ISGs), and found that the expressions of IFNAR1, OAS1 and MX1 were significantly lower in patients with rs2843710 genotype GG. And rs2843710 allele G showed weaker transcriptional activity compared with allele C. Our study indicated that rs2843710 of IFNAR1 was associated with the susceptibility and severity of EV71 HFMD in Chinese Han populations, acting as a functional polymorphism by regulating ISGs expression, such as OAS1 and MX1.
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Zou et al. (2015) conducted a case-control in Hand, foot and mouth disease (HFMD) with EV71 infection (n=1,769). IFNAR1 rs2843710 allele G vs. IFNAR1 rs2843710 allele C was evaluated on Susceptibility to EV71 HFMD (OR 1.34, 95% CI 1.15-1.55, p=0.0001). The IFNAR1 promoter polymorphism rs2843710 allele G was significantly associated with increased susceptibility to EV71 hand, foot, and mouth disease (OR 1.34) compared to allele C.
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