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H. J. Perez-Cano, J. A. Castro-Mondragon, H. Mejia-Lopez; Influence of the Polymorphism of the 5' UTR Region of HBD1 Gene in Patients With Adenoviral Conjunctivitis. Invest. Ophthalmol. Vis. Sci. 2009;50(13):5055.
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The human beta-defensins (HBDs) are small involved cationic peptides against bacteria, fungi and virus. The HBD1 gene is constitutively expressed by queratinocytes and epithelial cells. It has been reported that HBD1 has chemotactic activity in dendritic and T memory cells. Recently, there is a particular interest on the involvement of single nucleotide polymorphisms (SNPs) in HBD1 gene, and their participation in susceptibility to infections. Two polymorphisms were found in 5'UTR region of HBD1 gene, -52G/A and -44C/G, and have been reported that -55G and -44C alleles are related to a greater risk of infection by HIV. However, little is know about the participation of these polymorphisms in ocular infections. In this work we proposed that the polymorphisms on 5'UTR region in HBD1 gene is associated with susceptibility to adenoviral conjunctivitis.
Twenty seven samples of scrapped of conjunctival coat from patients with sporadic and epidemic adenoviral conjunctivitis, and twenty five samples from not infected subjects, as controls, were studied. The 5'UTR region of HBD1 gene was amplified by PCR, and then, the PCR products were purified and analyzed the presence of SNPs -52G/A and -44C/G by direct sequencing.
The allelic frequency of -44C was 74% and -52G was 74% of the 5'UTR region of HBD1 gene in patients, and in controls 50% and 54%, respectively. Our results showed significantly differences between patients and control subjects (Chi-square 6.41, p=0.01; Chi-square 4.56, p=0.05 respectively). The relative risk obtained for -44C allele was 2.86 and for -52G allele was 2.44. For the locus -20A/G was not found significantly differences.
The results obtained showed high frequencies for -44C and -52G alleles in patients with adenoviral conjunctivitis, and this suggested that -44C and -52G polymorphisms in HBD1 gene are associated with the susceptibility to the adenoviral ocular infection in the studied population.
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