ab030e7f-dd9b-4c5f-b96e-dd62841db9eb
title
Chemokine gene polymorphisms associate with gender in patients with uveitis.
7f73221f-8077-4845-97e3-24d5c931233a
abstract
Uveitis is an inflammatory condition of ocular tissue characterized by leukocyte infiltration, tissue damage, and decreased visual acuity. Chemokines have been implicated in the pathogenesis of uveitis. Polymorphisms in the genes encoding chemokines have been described as affecting chemokine production or function. We analyzed the frequency of single-nucleotide polymorphisms (SNPs) in genes encoding  CCL2  (-2518 and -2076) and  CCL5  (-403 and -28) in patients with Behcet's disease (BD), a systemic form of uveitis, and patients with retinal vasculitis (RV), an organ-specific form of disease. We report that there was no association between any SNP and disease. However, when segregated on the basis of gender the CCR5  -403 AA  genotype was only found in male patients with BD. Similarly,  CCL2  genotypes 1/2 were predominant in males, while genotype 4 was significantly associated with disease in female patients with BD. Differences in disease symptoms and severity between males and females have been described in BD and gender-specific genetic differences in chemokine gene function may be involved.