374
Views
14
CrossRef citations to date
0
Altmetric
Mini-Review

Association of Combined Complement Factor H Y402H and ARMS/LOC387715 A69S Polymorphisms with Age-related Macular Degeneration: A Meta-analysis

, , , &
Pages 1519-1525 | Received 10 Dec 2015, Accepted 21 Feb 2016, Published online: 07 Jun 2016

References

  • 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;116:1082–1088.
  • VanNewkirk MR, Nanjan MB, Wang JJ, Mitchell P, Taylor HR, McCarty CA. The prevalence of age-related maculopathy: the visual impairment project. Ophthalmology 2000;107:1593–1600.
  • Mitchell P, SmithW, Attebo K, Wang JJ. Prevalence of age-related maculopathy in Australia. The Blue Mountains Eye Study. Ophthalmology 1995;102:1450–1460.
  • Pang CP, Baum L, Chan WM, Lau TC, Poon PM, Lam DS. The apolipoprotein E e4 allele is unlikely to be a major risk factor of age-related macular degeneration in Chinese. Ophthalmologica 2000;214:289–291.
  • Rattner A, Nathans J. Macular degeneration: recent advances and therapeutic opportunities. Nat Rev Neurosci 2006;7:860–872.
  • Edwards AO, Malek G. Molecular genetics of AMD and current animal models. Angiogenesis 2007;10:119–132.
  • Haddad S, Chen CA, Santangelo SL, Seddon JM. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol 2006;51:316–363.
  • Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA, et al. Age-related maculopathy: a genome wide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 2004;75:174–189.
  • Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, et al. Age-related macular degeneration—a genome scan in extended families. Am J Hum Genet 2003;73:540–550.
  • Seddon JM, Santangelo SL, Book K, Chong S, Cote J. A genome wide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet. 2003;73:780–790.
  • Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, et al. Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 2004;74:482–494.
  • 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;308:385–389.
  • Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005;308:419–421.
  • Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 2005;308:421–424.
  • Magnusson KP, Duan S, Sigurdsson H, Petursson H, Yang Z, Zhao Y, et al. CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD PLoS Med 2006;3:e5.
  • Moshfeghi DM, Blumenkranz MS. Role of genetic factors and inflammation in age-related macular degeneration. Retina 2007;27:269–275.
  • Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet 2005;14:3227–3236.
  • Conley YP, Jakobsdottir J, Mah T, Weeks DE, Klein R, Kuller L, et al. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta analyses. Hum Mol Genet 2006;15:3206–3218.
  • Rodríguez de Córdoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sánchez-Corral P. The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol 2004;41:355–367.
  • Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, et al. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 2007;104:16227–16232.
  • Tong Y, Liao J, Zhang Y, Zhou J, Zhang H, Mao M. LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis. Mol Vis 2010;16:1958–1981.
  • Thakkinstian A, Han P, McEvoy M, Smith W, Hoh J, Magnusson K, et al. Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet 2006;15:2784–2790.
  • Zou GY. On the estimation of additive interaction by use of the four-by-two table and beyond. Am J Epidemiol 2008;168:212–224.
  • Andersson T, Alfredsson L, Källberg H, Zdravkovic S, Ahlbom A. Calculating measures of biological interaction. Eur J Epidemiol 2005;20:575–579.
  • Almeida LN, Melilo-Carolino R, Veloso CE, Pereira PA, Bastos-Rodrigues L, Sarubi H, et al. Association analysis of CFH and ARMS2 gene polymorphisms in a Brazilian cohort with age-related macular degeneration. Ophthalmic Res 2013;50:117–22.
  • Schaumberg DA, Hankinson SE, Guo Q, Rimm E, Hunter DJ. A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol 2007;125:55–62.
  • Nazari Khanamiri H, Ghasemi Falavarjani K, Sanati MH, Aryan H, Irani A, Hashemi M, et al. Complement factor H Y402H and LOC387715 A69S polymorphisms in association with age-related macular degeneration in Iran. J Ophthalmic Vis Res 2014;9:181–187.
  • Losonczy G, Fekete Á, Vokó Z, Takács L, Káldi I, Ajzner É, et al. Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients. Acta Ophthalmol 2011;89:255–262.
  • Xu Y, Guan N, Xu J, Yang X, Ma K, Zhou H, et al. Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Mol Vis 2008;28(14):1373–1381.
  • Ricci F, Zampatti S, D’Abbruzzi F, Missiroli F, Martone C, Lepre T, et al. Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population. Arch Ophthalmol 2009;127:1368–1372.
  • Cooke Bailey JN, Sobrin L, Pericak-Vance MA, Haines JL, Hammond CJ, Wiggs JL. Advances in the genomics of common eye diseases. Hum Mol Genet 2013;22(R1):R59–65.
  • Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, et al. Seven new loci associated with age-related macular degeneration. Nat Genet 2013;45:433–439.
  • Smailhodzic D, Klaver CC, Klevering BJ, Boon CJ, Groenewoud JM, Kirchhof B, et al. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. Ophthalmology 2012;119:339–346.
  • Kortvely E, Hauck SM, Duetsch G, Gloeckner CJ, Kremmer E, Alge-Priglinger CS, et al. ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci 2010;51:79–88.
  • Xu YT, Wang Y, Chen P, Xu HF. Age-related maculopathy susceptibility 2 participates in the phagocytosis functions of the retinal pigment epithelium. Int J Ophthalmol 2012;5:125–132.
  • Lechanteur YT, van de Camp PL, Smailhodzic D, van de Ven JP, Buitendijk GH, Klaver CC, et al. Association of smoking and CFH and ARMS2 risk variants with younger age at onset of neovascular age-related macular degeneration. JAMA Ophthalmol 2015;133:533–541.
  • Lau LI, Chen SJ, Cheng CY, Yen MY, Lee FL, Lin MW, et al. Association of the Y402H Polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. Invest Ophthalmol Vis Sci 2006;47:3242–3246.
  • Chen LJ, Liu DT, Tam PO, Chan WM, Liu K, Chong KK, et al. Association of complement factor H polymorphisms with exudative age-related macular degeneration. Mol Vis 2006;12:1536–1542.
  • Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, et al. Age related macular degeneration is associated with an unstable ARMS2 (LOC3877159) mRNA. Nat Genet 2008;40:892–896.
  • Giclas PC, Pinckard RN, Olson MS. In vitro activation of complement by isolated human heart subcellular membranes. J Immunol 1979;122:146–151.
  • Wang X, Elston RC, Zhu X. The meaning of interaction. Hum Hered 2010;70:269–277.
  • Seitsonen SP, Onkamo P, Peng G, Xiong M, Tommila PV, Ranta PH, et al. Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration. PLoS One. 2008;3:e3833.
  • Zhao J, Jin L, Xiong M. Test for interaction between two unlinked loci. Am J Hum Genet 2006;79:831–845.
  • Yasuma TR, Nakamura M, Nishiguchi KM, Kikuchi M, Kaneko H, Niwa T, et al. Elevated C-reactive protein levels and ARMS2/HTRA1 gene variants in subjects without age-related macular degeneration. Mol Vis 2010;31:2923–2930.
  • Black S, Kushner I, Samols D. C-reactive protein. J Biol Chem 2004;279:48487–48490.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.