Loss-of-function mutations E6 27X and I923V of IFIH1 are associated with lower poly (I: C)–induced interferon-β production in peripheral blood mononuclear cells of …
DA Chistiakov, NV Voronova, KV Savost'Anov… - Human immunology, 2010 - Elsevier
Melanoma differentiation-associated 5 (MDA5), a product of the IFIH1 gene, is responsible
for sensing double-stranded viral double-stranded RNA (RNA). In this study, we showed a
significant association of two rare IFIH1 variants, rs35744605 (E627X) and rs35667974
(I923V), with decreased risk of type 1 diabetes (T1D) in a Russian population (for the allele
X627, odds ratio [OR]= 0.39, 95% confidence interval [95% CI]= 0.22–0.69, p= 0.0015; for
the allele V923, OR= 0.45, 95% CI, 0.30–0.66, p= 5.4× 10− 5). We detected a 3.5-fold …
for sensing double-stranded viral double-stranded RNA (RNA). In this study, we showed a
significant association of two rare IFIH1 variants, rs35744605 (E627X) and rs35667974
(I923V), with decreased risk of type 1 diabetes (T1D) in a Russian population (for the allele
X627, odds ratio [OR]= 0.39, 95% confidence interval [95% CI]= 0.22–0.69, p= 0.0015; for
the allele V923, OR= 0.45, 95% CI, 0.30–0.66, p= 5.4× 10− 5). We detected a 3.5-fold …