Research in Molecular Medicine

en Susceptible Single Nucleotide Polymorphisms in Exon 10 and Intron 9 of Complement Factor H Gene in Patients With Age-related Macular Degeneration بیماریهای چشم Ophthalmology پژوهشي Research <div style="text-align: justify;">Background: Age-related macular degeneration (AMD) is the leading cause of vision loss in the elderly. Although it has been shown that Y402H polymorphism in the CFH gene was strongly associated with AMD in the Iranian population, there were no data on other single nucleotide polymorphisms (SNPs), which have the most significant association with AMD. This study aimed to investigate hot point regions in exon 10 and intron 9.</div> <div style="text-align: justify;">Materials and Methods: One hundred and sixty-six AMD patients and 69 controls were recruited. Their blood was collected in the tubes containing EDTA. Then, DNA was extracted from the blood, and its quality was evaluated. Primers were designed for intron 9 and exon10 sequencing. A viral polymorphisms analysis software named CEQ was used for the analysis of putative polymorphisms. Results: We noticed three polymorphisms in study cases: rs7535263 and C66379A in intron 9 and rs2274700 in exon 10. Based on the McNamara’s test (rs7535263 and rs2274700) and the Phi and Cramer’s test (C66379A), a significant difference was found between the control and patient groups regarding rs7535263 and rs2274700 polymorphisms. Conclusion: We found a synonymous or silent mutation, A473A, rs2274700 in exon 10 in 85% of patients. From two intronic SNPs, just rs7535263 showed association with the disease in studied patients living in Gilan Province, Iran. Although no significant relationship was found between controls and patients regarding the C66379A allele, it would be important that no other sources have reported C66379A polymorphism in AMD yet.  </div> AMD, CFH, SNP, exon10, intron 9 61 70 http://rmm.mazums.ac.ir/browse.php?a_code=A-10-1182-1&slc_lang=en&sid=1 Zahrasoheila Soheili zssoheili@gmail.com 10031947532846009462 10031947532846009462 Yes National Institute of Genetic Engineering and Biotechnology, Tehran, Iran. Hamid Ahmadieh hahmadieh@hotmail.com 10031947532846009463 10031947532846009463 No Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Siamak Moradian moradian@aut.ac.ir 10031947532846009464 10031947532846009464 No Department of Ophthalmology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Shahram Samiee shahramsamiee1@gmail.com 10031947532846009465 10031947532846009465 No Blood Transfusion Research Center, High Institute for Research & Education in Transfusion Medicine, Tehran, Iran. Narsis Daftarian nardaftarian@hotmail.com 10031947532846009466 10031947532846009466 No Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Samira Kheitan s.kheitan@queensu.ca 10031947532846009467 10031947532846009467 No Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada. Shamila D.Alipoor shamilaalipoor@gmail.com 10031947532846009468 10031947532846009468 No National Institute of Genetic Engineering and Biotechnology, Tehran, Iran. Abouzar Bagheri a.bagherimg@gmail.com 10031947532846009469 10031947532846009469 No Department of Clinical Biochemistry-Biophysics and Genetics, Molecular and Cell Biology Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran. Seyed Ghader Azizi s.ghaderazizi@yahoo.com 10031947532846009470 10031947532846009470 No Blood Transfusion Research Center, High Institute for Research & Education in Transfusion Medicine, Tehran, Iran.