@2024 Afarand., IRAN
ISSN: 2252-0805 The Horizon of Medical Sciences 2017;23(3):175-180
ISSN: 2252-0805 The Horizon of Medical Sciences 2017;23(3):175-180
Effect of Complement Factor B Gene Polymorphisms on Age-Related Macular Degeneration in North-East of Iran Population
ARTICLE INFO
Article Type
Original ResearchAuthors
Roshani Pour N. (1)Jabbarpour Bonyadi M. (*)
Jabbarpour Bonyadi M.H. (2)
(*) Center of Excellence for Biodiversity , Natural Sciences Faculty, University of Tabriz, Tabriz, Iran
(1) Biology Department, Genetic School, Tabriz Branch, Islamic Azad University, Tabriz, Iran
(2) Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Correspondence
Address: Natural Sciences Faculty, University of Tabriz, 29 Bahman Street, Tabriz, IranPhone: +98 (41) 33357622
Fax: +98(41) 33357622
jabbarpour@tabrizu.ac.ir
Article History
Received: December 15, 2016Accepted: February 27, 2016
ePublished: July 22, 2017
ABSTRACT
Aims
Age-related macular degeneration (AMD) is the most prevalent cause of irreversible blindness and debilitating in old stages, in developed and developing countries that engage the central part of the retina or macula. The aim of this study was to evaluate the relationship of the rs4151667 position of the complement factor B gene polymorphism with AMD (dry type with geographic atrophy phenotype) in the North East of Iran population.
Materials & Methods In this descriptive cross-sectional study in 2016-2017, 44 AMD patients (dry type with geographic atrophy phenotype) were randomly selected from Gonabad City, Iran, health centers as the patient group. 50 healthy individuals from the same society that have no relative relations with each other or the patients, but were adapted by age and sex to the patient group, were selected as the control group. The ¬¬polymorphism of rs4151667 (c.26T>A)¬ position of the complement factor B gene was determined for all samples by Restriction Fragment Length Polymorphism (RFLP). Data was analyzed the Chi-square test in 2x2.Contingency software.
Findings The frequency of TT genotype in AMD patients (95.5%) was significantly (p=0.048) more than the control group (88.0%), but the frequency of AT genotype in AMD patients (4.5%) was significantly (p=0.025) less than the control group (12.0%).
Conclusion The polymorphism of rs4151667 (c.26T>A) position of complement factor B is effective on the development of AMD in North East of Iran population.
Materials & Methods In this descriptive cross-sectional study in 2016-2017, 44 AMD patients (dry type with geographic atrophy phenotype) were randomly selected from Gonabad City, Iran, health centers as the patient group. 50 healthy individuals from the same society that have no relative relations with each other or the patients, but were adapted by age and sex to the patient group, were selected as the control group. The ¬¬polymorphism of rs4151667 (c.26T>A)¬ position of the complement factor B gene was determined for all samples by Restriction Fragment Length Polymorphism (RFLP). Data was analyzed the Chi-square test in 2x2.Contingency software.
Findings The frequency of TT genotype in AMD patients (95.5%) was significantly (p=0.048) more than the control group (88.0%), but the frequency of AT genotype in AMD patients (4.5%) was significantly (p=0.025) less than the control group (12.0%).
Conclusion The polymorphism of rs4151667 (c.26T>A) position of complement factor B is effective on the development of AMD in North East of Iran population.
CITATION LINKS
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[21]Bressler SB, Munoz B, Solomon SD, West SK. Racial differences in the prevalence of age-related macular degeneration: The Salisbury Eye Evaluation (SEE) Project. Arch Ophthalmol. 2008;126(2):241-5.
[22]Rudnicka AR, Jarrar Z, Wormald R, Cook DG, Fletcher A, Owen CG. Age and gender variations in age-related macular degeneration prevalence in populations of European ancestry: A meta-analysis. Ophthalmology. 2012;119(3):571-80.
[23]Klein R, Klein BE, Knudtson MD, Wong TY, Cotch MF, Liu K, et al. Prevalence of age-related macular degeneration in 4 racial/ethnic groups in the multi-ethnic study of atherosclerosis. Ophthalmology. 2006;113(3):373-80.
[24]¬Fotouhi A, Hashemi H, Mohammad K, Jalali KH. The prevalence and causes of visual impairment in Tehran: the Tehran Eye Study. Br J Ophthalmol. 2004;88(6):740-5.
[25]Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet. 2009;10:19-43.
[26]Ratnapriya R, Chew EY. Age-related macular degeneration-clinical review and genetic update. Clin Genet. 2013;84(2):160-6.
[27]Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, et al. Systemic complement activation in age-related macular degeneration. PLoS One. 2008;3(7):e2593.
[28]Reynolds R, Hartnett ME, Atkinson JP, Giclas PC, Rosner B, Seddon JM. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci. 2009;50(12):5818-27.
[29]Baird PN, Islam FM, Richardson AJ, Cain M, Hunt N, Guymer R. Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci. 47(10):4194-8.
[30]Baird PN, Guida E, Chu DT, Vu HT, Guymer RH. The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2004;45(5):1311-5.
[31]Saadat I, Vakili-Ghartavol R, Farvardin-Jahromi M, Saadat M. Association betweenExudative Age-related Macular Degeneration and the G6721T Polymorphism of XRCC7 inOutdoor Subjects. Korean J Ophthalmol. 2012;26(6):423-7.
[32]Liu X, Zhao P, Tang S, Lu F, Hu J, Lei C, et al. Association study of complement factor H, C2, CFB, and C3 and age related macular degeneration in a Han Chinese population. Retina. 2010;30(8):1177-84.
[33]Lee KY, Vithana EN, Mathur R, Yong VH, Yeo IY, Thalamuthu A, et al. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2008;49(6):2613-9.
[34]Cui L, Zhou H, Yu J, Sun E, Zhang Y, Jia W, et al. Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese population. Invest Ophthalmol Vis Sci. 2010;51(2):1116-20.
[35]Kaur I, Katta S, Reddy RK, Narayanan R, Mathai A, Majji AB, et al. The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2010;51(1):59-63.
[36]Thakkinstian A, McEvoy M, Chakravarthy U, Chakrabarti S, McKay GJ, Ryu E, et al. The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: A HuGE review and meta-analysis. Am J Epidemiol. 2012;176(5):361-72.
[37]Contreras AV, Zenteno JC, Fernández-López JC, Rodríguez-Corona U, Falfán-Valencia R, Sebastian L, et al. CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans. Mol Vis. 2014;20:105-16.
[2]Berman K, Brodaty H. Psychosocial effects of age-related macular degeneration. Int Psychogeriatr. 2006;18(3):415-28.
[3]Thakkinstian A, McKay GJ, McEvoy M, Chakravarthy U, Chakrabarti S, Silvestri G, et al. Systematic review and meta-analysis of the association between complement component 3 and age-related macular degeneration: A HuGE review and meta-analysis. Am J Epidemiol. 2011;173(12):1365-79.
[4]Munoz B, West SK, Rubin GS, Schein OD, Quigley HA, et al. Causes of blindness and visual impairment in a population of older Americans: The salisbury eye evaluation study. Arch Ophthalmol. 2000;118(6):819-25.
[5]Hirvela H, Luukinen H, Laara E, Sc L, Laatikainen L. Risk factors of age-related maculopathy in a population 70 years of age or older. Ophthalmology. 1996;103(6):871-7.
[6]Weiter JJ, Delori FC, Wing GL, Fitch KA. Retinal pigment epithelial lipofuscin and melanin and choroidal melanin in human eyes. Invest Ophthalmol Vis Sci. 1986;27(2):145-52.
[7]Kawasaki R, Wang JJ, Ji GJ, Taylor B, Oizumi T, Daimon M, et al. Prevalence and risk factors for age-related macular degeneration in an adult Japanese population: The Funagata study. Ophthalmology. 2008;115(5):1376-81.
[8]Walport MJ. Complement first of two parts. N Engl J Med. 2001;344(14):1058-66.
[9]Crabb JW, Miyagi M, Gu X, Shadrach K, West KA, Sakaguchi H, et al. Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Proc Natl Acad Sci U S A. 2002;99(23):14682-7.
[10]¬Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308(5270):384-9.
[11]¬Francis PJ, Hamon SC, Ott J, Weleber RG, Klein ML. Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss. J Med Genet. 2009;46(5):300-7.
[12]Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, et al. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med. 2006;38(8):592-604.
[13]Markiewski MM, Deangelis RA, Lambris JD. Complexity of complement activation in sepsis. J Cell Mol Med. 2008;12(6A):2245-54.
[14]¬Lokki ML, Koskimies SA. Allelic differences in hemolytic activity and protein concentration of BF molecules are found in association with particular HLA haplotypes. Immunogenetics. 1991;34(4):242-6.
[15]Tomany SC, Wang JJ, Van Leeuwen R, Klein R, Mitchell P, Vingerling JR, et al. Risk factors for incident age-related macular degeneration: Pooled findings from 3 continents. Ophthalmology. 2004;111(7):1280-7.
[16]Xing C, Sivakumaran TA, Wang JJ, Rochtchina E, Joshi T, Smith W, et al. Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: The Blue Mountains Eye Study. Genes Immun. 2008;9(3):231-9.
[17]Kew¬ RR, Ghebrehiwet B, Janoff A. Characterization of the third component of complement (C3) after activation by cigarette smoke. Clin Immunol Immunopathol. 1987;44(2):248-58.
[18]Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
[19]Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, et al. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 1998;116(8):1082-8.
[20]Wong WL, Xinyi Su, Xiang Li, Cheung CM, Klein R, Cheng C, Wong TY. Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: A systematic review and meta-analysis. Lancet Glob Health. 2014;2(2):e106-16.
[21]Bressler SB, Munoz B, Solomon SD, West SK. Racial differences in the prevalence of age-related macular degeneration: The Salisbury Eye Evaluation (SEE) Project. Arch Ophthalmol. 2008;126(2):241-5.
[22]Rudnicka AR, Jarrar Z, Wormald R, Cook DG, Fletcher A, Owen CG. Age and gender variations in age-related macular degeneration prevalence in populations of European ancestry: A meta-analysis. Ophthalmology. 2012;119(3):571-80.
[23]Klein R, Klein BE, Knudtson MD, Wong TY, Cotch MF, Liu K, et al. Prevalence of age-related macular degeneration in 4 racial/ethnic groups in the multi-ethnic study of atherosclerosis. Ophthalmology. 2006;113(3):373-80.
[24]¬Fotouhi A, Hashemi H, Mohammad K, Jalali KH. The prevalence and causes of visual impairment in Tehran: the Tehran Eye Study. Br J Ophthalmol. 2004;88(6):740-5.
[25]Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet. 2009;10:19-43.
[26]Ratnapriya R, Chew EY. Age-related macular degeneration-clinical review and genetic update. Clin Genet. 2013;84(2):160-6.
[27]Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, et al. Systemic complement activation in age-related macular degeneration. PLoS One. 2008;3(7):e2593.
[28]Reynolds R, Hartnett ME, Atkinson JP, Giclas PC, Rosner B, Seddon JM. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci. 2009;50(12):5818-27.
[29]Baird PN, Islam FM, Richardson AJ, Cain M, Hunt N, Guymer R. Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci. 47(10):4194-8.
[30]Baird PN, Guida E, Chu DT, Vu HT, Guymer RH. The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2004;45(5):1311-5.
[31]Saadat I, Vakili-Ghartavol R, Farvardin-Jahromi M, Saadat M. Association betweenExudative Age-related Macular Degeneration and the G6721T Polymorphism of XRCC7 inOutdoor Subjects. Korean J Ophthalmol. 2012;26(6):423-7.
[32]Liu X, Zhao P, Tang S, Lu F, Hu J, Lei C, et al. Association study of complement factor H, C2, CFB, and C3 and age related macular degeneration in a Han Chinese population. Retina. 2010;30(8):1177-84.
[33]Lee KY, Vithana EN, Mathur R, Yong VH, Yeo IY, Thalamuthu A, et al. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2008;49(6):2613-9.
[34]Cui L, Zhou H, Yu J, Sun E, Zhang Y, Jia W, et al. Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese population. Invest Ophthalmol Vis Sci. 2010;51(2):1116-20.
[35]Kaur I, Katta S, Reddy RK, Narayanan R, Mathai A, Majji AB, et al. The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2010;51(1):59-63.
[36]Thakkinstian A, McEvoy M, Chakravarthy U, Chakrabarti S, McKay GJ, Ryu E, et al. The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: A HuGE review and meta-analysis. Am J Epidemiol. 2012;176(5):361-72.
[37]Contreras AV, Zenteno JC, Fernández-López JC, Rodríguez-Corona U, Falfán-Valencia R, Sebastian L, et al. CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans. Mol Vis. 2014;20:105-16.