TBX15 rs984222 gene polymorphism Association with AgeRelated Macular Degeneration by Gender

Abstract

Background. Age-related macular degeneration (AMD) is a progressive neurodegenerative disease which damages the macula in the retina. AMD is the leading cause of blindness in adults over 65 years old in the developed countries. As etiology and pathogenesis of this disease is not clear, it has no cure at present [1]. Studies showed that the development of AMD is caused not only by environmental factors but also by genetic factors. Aim. To determine the frequency of the genotype of TBX15 rs984222 in patients with age-related macular degeneration by gender. Materials and methods. Study enrolled n=100 patients with age related macular degeneration and n=200 healthy controls. DNA was extracted from peripheral blood leukocytes using DNA salting-out method. Genotyping was carried out using realtime polymerase chain reaction (RT-PCR) method. Statistical analysis was performed with „SPSS version 20.0“. Results. The analysis of TBX15 rs984222 gene polymorphism in the overall group did not reveal any differences in the distribution of GG, GC and CC genotypes (43,1%, 43,1% and 13,8% in females with AMD group and 40,4%, 43,6%, 16% in control group; 52,4%, 35,7% and 11,9 in males with AMD group and 50% ,43,2%, 6,8% in control group, respectively). Conclusion. The comparison of TBX15 rs984222 genotype in males and females between patients with AMD and the control group did not show any statistically significant differences. [...]

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