Volume 9, Issue 1 (Feb 2021)
Res Mol Med (RMM) 2021, 9(1): 61-70 |
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Soheili Z, Ahmadieh H, Moradian S, Samiee S, Daftarian N, Kheitan S, et al . Susceptible Single Nucleotide Polymorphisms in Exon 10 and Intron 9 of Complement Factor H Gene in Patients With Age-related Macular Degeneration. Res Mol Med (RMM) 2021; 9 (1) :61-70
URL: http://rmm.mazums.ac.ir/article-1-403-en.html
URL: http://rmm.mazums.ac.ir/article-1-403-en.html
Zahrasoheila Soheili 
1, Hamid Ahmadieh2 , Siamak Moradian3 , Shahram Samiee4 , Narsis Daftarian5 , Samira Kheitan6 , Shamila D.Alipoor7 , Abouzar Bagheri8 , Seyed Ghader Azizi4
1, Hamid Ahmadieh2 , Siamak Moradian3 , Shahram Samiee4 , Narsis Daftarian5 , Samira Kheitan6 , Shamila D.Alipoor7 , Abouzar Bagheri8 , Seyed Ghader Azizi4
1- National Institute of Genetic Engineering and Biotechnology, Tehran, Iran. , zssoheili@gmail.com
2- Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
3- Department of Ophthalmology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
4- Blood Transfusion Research Center, High Institute for Research & Education in Transfusion Medicine, Tehran, Iran.
5- Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
6- Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada.
7- National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
8- Department of Clinical Biochemistry-Biophysics and Genetics, Molecular and Cell Biology Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
2- Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
3- Department of Ophthalmology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
4- Blood Transfusion Research Center, High Institute for Research & Education in Transfusion Medicine, Tehran, Iran.
5- Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
6- Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada.
7- National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
8- Department of Clinical Biochemistry-Biophysics and Genetics, Molecular and Cell Biology Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
Abstract: (2292 Views)
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.
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.
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.
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