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مقالات فارسیISIکنفرانسهاژورنالها

Susceptible Single Nucleotide Polymorphisms in Exon ۱۰ and Intron ۹ of Complement Factor H Gene in Patients With Age-related Macular Degeneration

محل انتشار: مجله تحقیق در پزشکی مولکولی، دوره: 9، شماره: 1
سال انتشار: 1399
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 93

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استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:
https://civilica.com/doc/1881734

شناسه ملی سند علمی:

JR_REMJ-9-1_007

تاریخ نمایه سازی: 20 دی 1402

چکیده مقاله:

Background: Age-related macular degeneration (AMD) is the leading cause of vision loss in the elderly. Although it has been shown that Y۴۰۲H 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 ۱۰ and intron ۹. Materials and Methods: One hundred and sixty-six AMD patients and ۶۹ 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 ۹ and exon۱۰ sequencing. A viral polymorphisms analysis software named CEQ was used for the analysis of putative polymorphisms. Results: We noticed three polymorphisms in study cases: rs۷۵۳۵۲۶۳ and C۶۶۳۷۹A in intron ۹ and rs۲۲۷۴۷۰۰ in exon ۱۰. Based on the McNamara’s test (rs۷۵۳۵۲۶۳ and rs۲۲۷۴۷۰۰) and the Phi and Cramer’s test (C۶۶۳۷۹A), a significant difference was found between the control and patient groups regarding rs۷۵۳۵۲۶۳ and rs۲۲۷۴۷۰۰ polymorphisms. Conclusion: We found a synonymous or silent mutation, A۴۷۳A, rs۲۲۷۴۷۰۰ in exon ۱۰ in ۸۵% of patients. From two intronic SNPs, just rs۷۵۳۵۲۶۳ 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 C۶۶۳۷۹A allele, it would be important that no other sources have reported C۶۶۳۷۹A polymorphism in AMD yet.

کلیدواژه ها:

AMD ، CFH ، SNP ، exon۱۰ ، intron ۹

نویسندگان

Zahrasoheila Soheili

National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.

Hamid Ahmadieh

Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Siamak Moradian

Department of Ophthalmology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Shahram Samiee

Blood Transfusion Research Center, High Institute for Research & Education in Transfusion Medicine, Tehran, Iran.

Narsis Daftarian

Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Samira Kheitan

Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada.

Shamila D.Alipoor

National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.

Abouzar Bagheri

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

Blood Transfusion Research Center, High Institute for Research & Education in Transfusion Medicine, Tehran, Iran.

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