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Hector Perez-Cano, Ingrid Gonzalez Leon, Oscar Fernandez-Vizcaya, Justine Nolasco-Lopez, Jean Clemenceau, Atzin Robles-Contreras, Genetics and Molecular Microbiology; Association of the polymorphism of the 5' UTR region of the HBD1 gene in patients with infectious blepharitis. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1576. doi: https://doi.org/.
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Recently, there is a particular interest in the participation of single nucleotide polymorphisms (SNPs) in DEFB1 gene and involvement in susceptibility to infections. Two polymorphisms have been associated in the 5'UTR region of HBD1 gene,-52G/A and -44C/G, and have been reported -44C and -55G alleles associated with increased risk of HIV infection and respiratory infections with Candida in diabetic patients. However, little is known about the involvement of these polymorphisms in ocular infections. We propose that polymorphisms in the 5'UTR region in HBD1 gene is associated with infectious blepharitis There are not information about infectious blepharitis and its relationship to the 5'UTR polymorphism DEFB1 gene for that reason after conducting an epidemiological study to identify the most common pathogens that occur in infectious blepharitis in patients attending at Hospital Foundation Nuestra Senora de la Luz was performed an analysis looking association between infectious blepharitis and 5'UTR DEFB1 gene polymorphism.
One hundred patients with infectious blepharitis, and thirty one not infected subjects, as controls, were studied. We obtained samples from scraping palpebral for DNA extraction. 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 60% and -52G was 50% of the 5'UTR region of HBD1 gene in patients, and in controls 50% and 60%, respectively. Our results not showed significantly differences between patients and control subjects (Chi-square 2.02, p=0.077; Chi-square 2.02, p=0.155 respectively).
In this study of Mexican population on infectious blepharitis and polymorphism of the gene 5'UTR DEFB1 no association was found, however, it is necessary to conduct several studies to find the risk factors for developing infectious blepharitis which might be involved systemic diseases affecting the immune mechanisms.
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