T Allele of nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε is a risk factor for the development of intracerebral hemorrhage

Hum Immunol. 2014 Jan;75(1):88-90. doi: 10.1016/j.humimm.2013.09.004. Epub 2013 Sep 17.


Interferons (IFNs) play key roles in various biologic responses including antiviral and immune reactions. We evaluated one possible risk factor in nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε (IFNE). We recruited stroke [119 ischemic stroke (IS) and 145 intracerebral hemorrhage (ICH)] and control (401), respectively. The nonsense SNP (rs2039381, Gln71Stop) of IFNE was selected. We identified individual genotype using sequencing. SNPStats and SPSS 18.0 programs were used to analyze genetic data. Genotype frequencies (C/C:C/T:T/T) in the ICH group and control group were 59.3:37.9:2.8 and 73.6:23.4:3.0, respectively. We found that rs2039381 was associated with ICH (OR = 2.01, 95% CI = 1.33-3.03, p = 0.001 in codominant1 model; OR = 1.91, 95% CI = 1.28-2.84, p = 0.0016 in dominant model; OR = 1.60, 95% CI = 1.14-2.26, p = 0.0074 in log-additive model). T allele frequency of rs2039381 was significantly higher in ICH than in controls. The nonsense SNP (rs2039381, Gln71Stop) of IFNE was associated with ICH (OR = 1.61, 95% CI = 1.14-2.26, p = 0.006). A nonsense SNP (rs2039381, Gln71Stop) of IFNE was associated with ICH in Korean population. Our findings raise the possibility that the T allele of rs2039381 is a risk factor which is susceptible to ICH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles*
  • Cerebral Hemorrhage / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Interferons / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Stroke / genetics


  • interferon-epsilon, human
  • Interferons