Association study between nonsense polymorphism (rs2039381, Gln71Stop) of Interferon-ε and susceptibility to vitiligo in Korean population

Abstract

Interferons (IFNs) are related to autoimmune responses. IFN-epsilon (IFNE) is included in IFN family, and may modulate immunological functions. Inflammation modulating functions of IFNE may be related with the pathophysiology of vitiligo. To investigate the association of nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε (IFNE) and susceptibility to vitiligo, we conducted a case-control association study in 265 non-segmental vitiligo (NSV) patients and 320 healthy controls. The nonsense single nucleotide polymorphism (SNP) (rs2039381, Gln71Stop) of IFNE was genotyped by direct sequencing. Multiple logistic regression models (log-additive, dominant, and recessive models) were applied to determine odds ratios (OR), 95% confidence interval (CI), and p values. The rs2039381 (Gln71Stop) of IFNE did not show significant differences between NSV patient group and control group. However, we found that in childhood onset NSV groups, the IFNE nonsense polymorphism (rs2039381, Gln71Stop) showed a significant association. There was significantly different distribution of nonsense polymorphism of rs2039381 (Gln71Stop) of IFNE between NSV patients (childhood <18 years) and control subjects. This study suggests that rs2039381 (Gln71Stop) polymorphism of IFNE may be related to onset time of vitiligo in NSV patients.

IFN-ε protects primary macrophages against HIV infection

“…The antiviral activity was associated with recruitment of increased numbers of lymphocytes and elevated cytotoxic T cell subsets in lung (23). The nonsense nucleotide polymorphism in IFN-ε has been associated with increased risks to develop vitiligo or intracerebral hemorrhage (28,29), possibly through immune dysregulation, suggesting its role in immune-associated diseases in humans.…”

New Interferons

“…Once verified, any functional significance of these expression patterns will require further investigation. Of note, a SNP (rs2039381) resulting in a truncated IFNε protein has a significant association with the autoimmune skin disorder vitiligo (Cho et al, 2013), again indicating a possible function of IFNε outside the FRT.…”

The regulation of antiviral activity of interferon epsilon

“…Recently, inflammation modulated by IFN-ε was shown to be related to the pathophysiology of vitiligo. In a study by Cho et al ( 2013 ), the relationship between the non-sense polymorphism (rs2039381 and Gln71Stop) of IFN-ε and susceptibility to vitiligo was investigated. They found no apparent differences in the rs2039381 (Gln71Stop) of IFN-ε between patients with non-segmental vitiligo and healthy humans.…”