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Michal Kramer, Murat Hasanreisoglu, Shirel Weiss, Deniz Kumova, Michal Schaap-Fogler, Sezen Ergun-Guntekin, Yair Molad, Nitza Goldenberg-Cohen, Yoram Cohen; Single Nucleotide Polymorphism in L23R-IL12RB2 gene is highly associated with Behcet's uveitis.. Invest. Ophthalmol. Vis. Sci. 2016;57(12):No Pagination Specified. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Single nucleotide polymorphisms (SNPs) in the IL-10 gene (rs1518111, rs1800872, rs1800871) and the IL23R-IL12RB2 locus (rs1495965) were found to be highly associated with Behcet's disease. We tested the frequency of these SNPs in Israeli and Turkish patients with Behcet's disease and their possible relationship with ocular inflammation.
Blood samples were collected from 99 Behcet's patients, 86 with uveitis (Israeli (25); Turkish (64)) and 13 without uveitis (Israeli), uveitis patients of other etiologies (n=38; Israeli) and 88 healthy subjects (Israeli (20); Turkish (68)). Genomic DNA was extracted from peripheral blood leukocytes and genotyped. Findings were compared among the groups.
The mutant A allele, rs1800871 located in the IL-10 gene was found highly prevalent in both Behcet's uveitis and healthy control samples alike; Turkish (88.2%, 95.3%, respectively) and less in the Israeli populations (60%, 64%, respectively). These allele frequencies differ substantially between the two populations for both the behcet's uveitis group (p<0.001) and the control group (p=0.008). The mutant G allele of rs1495965 located in the L23R-IL12RB2 gene is highly prevalent in the healthy Turkish population compared to the Israeli (77.9%, 27.8%, p<0.001), interestingly, no difference were found between Behcet's uveitis patients of both populations (79.4%, 66.7%, respectively). Both SNPs (rs1800871 and rs1495965) were significantly more prevalent in Behcet's patients (with and without uveitis) compared to uveitis of other etiologies (p≤0.001).
Turkish and Israeli healthy populations differ in the prevalence of rs1800871 mutant allele, possibly, accounting for the differences in disease prevalence between these populations. The rs1495965 mutant variant is associated with the affected Behcet's uveitis patients, thus may have a role in the pathogenesis of this disease. Further studies are required to map other healthy populations, and to search for the "second hit".
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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