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Edyta Niemczyk, Tammy M. Martin, Justine Smith, Philip I. Murray, Graham R. Wallace; Il10 Polymorphism In Acute Anterior Uveitis. Invest. Ophthalmol. Vis. Sci. 2011;52(14):3296.
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Acute anterior uveitis (AAU) is the most common form of uveitis with proposed autoinflammatory rather than autoimmune background. Competing cytokine levels may influence the outcome of ocular inflammation. The gene encoding IL-10, an anti-inflammatory cytokine, was previously investigated and several single nucleotide polymorphsisms (SNP) were proved to be implicated in various forms of uveitis and outcome. [Stanford et al., 2005; Mizuki et al., 2010; Remmers et al 2010; Atan et al 2010]. Functional studies also reported that the -1082A, -819T and -592A haplotype is associated with low IL-10 production whereas GCC haplotype formed by the same set of SNPs is linked with IL-10 upregulation and is protective against disease recurrence. The purpose of this study was to analyze the association between five such markers and acute anterior uveitis.
For this study DNA from 137 patients with AAU and 92 healthy controls recruited through Oregon Health and Science University were analyzed for polymorphisms in the promoter region of the IL10 gene at the established -1082A/G, -819C/T and -592A/C positions by Sequence Specific Primers - Polymerase Chain Reaction (SSP-PCR). Two additional markers of interest were analyzed by TaqMan SNP genotyping assays (Applied Biosystems): rs1518111, rs3024490. HaploView 4.2 software was used to define haplotypes based on SSP-PCR and TaqMan results.
SSP-PCR and TaqMan genotyping and joint analysis released four haplotypes: GCCCC, ACCCC, ATAAT, ATAAC. None reached the significance level for the association with the AAU however, the addition of subsequent markers to the established ATA haplotype showed a trend towards association.
The data on the five markers analyzed so far show that none of the haplotypes reach the significance for the association with AAU. However, the addition of subsequent SNPs to the established ATA haplotype showed a trend towards significance suggesting that further extending will be of interest.
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