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Investigation of Association of RORA, ROBO1, CFH and HTR1A Gene Polymorphisms on Age related Macular Degeneration

2014
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Advisor: Prof. Dr. Mustafa Solak

Abstract (EN)

Age Related Macular Degeneration (AMD) is a progressive and degenerative disease that effect central retina, macula lutea, in individuals older than fifty years. It is expected that 80 million people will be effected from AMD by the year of 2020. AMD is the leading cause of irreversible blindless and it is a complex disorder with a multifactorial etiology, and genetic predisposition is a major risk factor in its patogenesis. To date, several genes have been associated with an increasedrisk of developing AMD. Advanced AMD is divided into two late stages, exudatif (or neovascular) AMD and dry (or geographic athropy) AMD. In our study, RORA rs8034864, ROBO1 rs1387665, CFH rs1329424 and HTRA1 gene rs3793917 polymorphisms were evaluated in 125 patients diagnosed with neovascular AMD and 108 controls. The risk allele frequencies of studied gene polymorphisms vary between 26,8% and 54% in patients and vary between 33,65 % and 42,11 % in controls. There is statistically significant differences between patients and controls in terms of allele frequencies of CFHrs1329424 and HTRA1 rs3793917 polymorphisms (respectively, P=0,001698, OR= 1,82; P0,0001, OR=3,26). On contrary to this, there is no statistically significant differences between patients and controls in terms of allele frequencies of RORA rs8034864 and ROBO1 rs1387665 polymorphisms. Beside, there is statistically significant differences between patients and controls in terms of genotype frequencies of CFHrs1329424 and HTRA1 rs3793917 polymorphisms (P0,05), on contrary to this there is no statistically significant differences between patients and controls in terms of genotype frequencies of RORA rs8034864 and ROBO1 rs1387665 polymorphisms (P0,05). As a result, consistent with the literature data, there is significant association between neovascular AMD and CFH rs1329424 and HTRA1 rs3793917 polymorphisms. But there is no association between neovascular AMD and RORA rs8034864 and ROBO1 rs1387665 polymorphisms.

Author

Dr. Evrim Suna Arıkan Terzi

How to Cite

Evrim Suna Arıkan Terzi (Doctorate thesis). Investigation of Association of RORA, ROBO1, CFH and HTR1A Gene Polymorphisms on Age related Macular Degeneration, 2014, Afyon Kocatepe University.

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