Akahoshi M et al. - The data indicates that constitutive IRF3 mRNA expression was significantly lower in cells carrying the minor G-T/G-T haplotype pair compared with those carrying the major A-C haplotype. In conclusion: the promoter SNPs of the IRF3 gene were significantly associated with resistance against SLE. Methods
Aim was to identify a novel candidate gene in SLE
A panel of 6 genes encoding molecules involved in the type I interferon (IFN) system were analysed
Variants in the 5 genes related to type I IFN pathway were identified by sequencing
Genotyping of a panel of 8 selected SNPs in 6 candidate genes was performed in 137 pts with SLE and 152 healthy controls using qRT-PCR
In functional assay, qRT-PCR was performed to assess constitutive IRF3 mRNA expression in peripheral blood mononuclear cells from healthy subjects with different IRF3 promoter haplotypes
Results
Among 8 SNPs genotyped, an IRF3 SNP at –925 was found to be associated with SLE after correction for multiple tests
Of total 5 IRF3 SNPs genotyped, the promoter IRF3 SNPs –925A/G and –776C/T showed the most significant association with SLE
With regard to –925A/G, the frequency of GG genotype was decreased among SLE pts vs control group
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