September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Single Nucleotide Polymorphism in L23R-IL12RB2 gene is highly associated with Behcet's uveitis.
Author Affiliations & Notes
  • Michal Kramer
    Ophthalmology, Rabin Medical Center, Petah Tikva, Israel
    Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Murat Hasanreisoglu
    Department of Ophthalmology, Gazi University, School of Medicine, Ankra, Turkey
  • Shirel Weiss
    The Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petah Tikva, Israel
    Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Deniz Kumova
    Department of Ophthalmology, Gazi University, School of Medicine, Ankara, Turkey
  • Michal Schaap-Fogler
    Ophthalmology, Rabin Medical Center, Petah Tikva, Israel
    Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Sezen Ergun-Guntekin
    Department of Medical Genetics, Gazi University, School of Medicine , Ankara, Turkey
  • Yair Molad
    Rheumatology Unit, Rabin Medical Center, Petah-Tikva, Israel
    Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Nitza Goldenberg-Cohen
    The Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petah Tikva, Israel
    Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Yoram Cohen
    Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel
    Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
  • Footnotes
    Commercial Relationships   Michal Kramer, None; Murat Hasanreisoglu , None; Shirel Weiss, None; Deniz Kumova, None; Michal Schaap-Fogler , None; Sezen Ergun-Guntekin, None; Yair Molad, None; Nitza Goldenberg-Cohen, None; Yoram Cohen, None
  • Footnotes
    Support  This study was supported by a grant from the Claire and Amedee Maratier Institute for the Study of Blindness and Visual Disorders, Sackler Faculty of Medicine, Tel-Aviv University.
Investigative Ophthalmology & Visual Science September 2016, Vol.57, No Pagination Specified. doi:
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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. 201657(12):.

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      © 2017 Association for Research in Vision and Ophthalmology.

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Abstract

Purpose : 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.

Methods : 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.

Results : 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).

Conclusions : 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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