Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population

Experimental Eye Research

Volumn 96, Issue 1, 2012, Pages 42-47

  Kim, Suk Jin ^a   Lee, Soo Jeong ^a   Kim, Na Rae ^a   Chin, Hee Seung ^a  

^a Inha University School of Medicine   (South Korea)

Author keywords

Age related macular degeneration; Complement component 2; Complement component 3; Complement factor B; Polymorphisms

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; CHOLESTEROL; COMPLEMENT COMPONENT C2; COMPLEMENT COMPONENT C3;

ARTICLE; CONTROLLED STUDY; ENVIRONMENTAL EXPOSURE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HOMOZYGOSITY; HUMAN; HYPERTENSION; KOREA; MALE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING;

AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; COMPLEMENT C2; COMPLEMENT C3; COMPLEMENT FACTOR B; EPISTASIS, GENETIC; EXUDATES AND TRANSUDATES; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENE FREQUENCY; GENE-ENVIRONMENT INTERACTION; GENOTYPING TECHNIQUES; HUMANS; KOREA; MACULAR DEGENERATION; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84862825106     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2012.01.005     Document Type: Article

References (42)

1. Age-Related Eye Disease Study Research Group Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: age-related eye disease study report number 3. Ophthalmology 2000, 107:2224-2232.
2. Conley Y.P., Jakobsdottir J., Mah T., Weeks D.E., Klein R., Kuller L., Ferrell R.E., Gorin M.B. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and metaanalyses. Hum. Mol. Genet. 2006, 15:3206-3218.
3. Cui L., Zhou H., Yu J., Sun E., Zhang Y., Jia W., Jiao Y., Snellingen T., Liu X., Lim A., Wang N., Liu N. 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, 51:1116-1120.
4. DeWan A., Liu M., Hartman S., Zhang S.S., Liu D.T., Zhao C., Tam P.O., Chan W.M., Lam D.S., Snyder M., Barnstable C., Pang C.P., Hoh J. HTRA1 promoter polymorphism in wet age related macular degeneration. Science 2006, 314:989-992.
5. Edwards A.O., Malek G. Molecular genetics of AMD and current animal models. Angiogenesis 2007, 10:119-132.
6. Edwards A.O., Ritter I.I.I., Abel K.J., Manning A., Panhuysen C., Farrer L.A. Complement factor H polymorphism and age-related macular degeneration. Science 2005, 308:421-424.
7. Edwards A.O., Fridley B.L., James K.M., Sharma A.S., Cunningham J.M., Tosakulwong N. Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study. PloS ONE 2008, 3:e3813.
8. Friedman D.S., O'Colmain B.J., Muñoz B., Tomany S.C., McCarty C., de Jong P.T., Nemesure B., Mitchell P., Kempen J., Eye Diseases Prevalence Research Group Prevalence of age-related macular degeneration in the United States. Arch. Ophthalmol. 2004, 122:564-572.
9. Gold B., Merriam J.E., Zernant J., Hancox L.S., Taiber A.J., Gehrs K., Cramer K., Neel J., Bergeron J., Barile G.R., Smith R.T., AMD Genetics Clinical Study Group, Hageman G.S., Dean M., Allikmets R. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat. Genet. 2006, 38:458-462.
10. Haddad S., Chen C.A., Santangelo S.L., Seddon J.A. The genetics of age-related macular degeneration: a review of progress to date. Surv. Ophthalmol. 2006, 51:316-363.
11. Hageman G.S., Mullins R.F. Molecular composition of drusen as related to substructural phenotype. Mol. Vis. 1999, 5:28.
12. Hageman G.S., Luthert P.J., Victor Chong N.H., Johnson L.V., Anderson D.H., Mullins R.F. An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration. Prog. Retin. Eye Res. 2001, 20:705-732.
13. Haines J.L., Hauser M.A., Schmidt S., Scott W.K., Olson L.M., Gallins P., Spencer K.L., Kwan S.Y., Noureddine M., Gilbert J.R., Schnetz-Boutaud N., Agarwal A., Postel E.A., Pericak-Vance M.A. Complement factor H variant increases the risk of age related macular degeneration. Science 2005, 308:419-421.
14. Hughes A.E., Orr N., Patterson C., Esfandiary H., Hogg R., McConnell V., Silvestri G., Chakravarthy U. Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PloS Med. 2007, 12:e355.
15. Jakobsdottir J., Conley Y.P., Weeks D.E., Mah T.S., Ferrell R.E., Gorin M.B. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am. J. Hum. Genet. 2005, 77:389-407.
16. Johnson L.V., Leitner W.P., Staples M.K., Anderson D.H. Complement activation and inflammatory processes in Drusen formation and age related macular degeneration. Exp. Eye Res. 2001, 73:887-896.
17. Kanda A., Chen W., Othman M., Branham K.E., Brooks M., Khanna R., He S., Lyons R., Abecasis G.R., Swaroop A. 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.
18. Kaur I., Katta S., Reddy R.K., 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, 51:59-63.
19. Kawasaki R., Yasuda M., Song S.J., Chen S.J., Jonas J.B., Wang J.J., Mitchell P., Wong T.Y. The prevalence of age-related macular degeneration in Asians: a systematic review and meta-analysis. Ophthalmology 2010, 117:921-927.
20. Kim N.R., Kang J.H., Kwon O.W., Lee S.J., Oh J.H., Chin H.S. Association between complement factor H gene polymorphisms and neovascular age-related macular degeneration in Koreans. Invest.Ophthalmol. Vis. Sci. 2008, 49:2071-2076.
21. Klein R., Peto T., Bird A., Vannewkirk M.R. The epidemiology of age-related macular degeneration. Am. J. Ophthalmol. 2004, 137:486-495.
22. Klein R.J., Zeiss C., Chew E.Y., Tsai J.Y., Sackler R.S., Haynes C., Henning A.K., SanGiovanni J.P., Mane S.M., Mayne S.T., Bracken M.B., Ferris F.L., Ott J., Barnstable C., Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308:385-389.
23. Lee K.Y., Vithana E.N., Mathur R., Yong V.H., Yeo I.Y., Thalamuthu A., Lee M.W., Koh A.H., Lim M.C., How A.C., Wong D.W., Aung T. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest. Ophthalmol. Vis. Sci. 2008, 49:2613-2619.
24. Lee S.J., Kim N.R., Chin H.S. LOC387715/HTRA1 polymorphisms, smoking, and combined effects on exudative age-related macular degeneration in a Korean population. Clin. Experiment. Ophthalmol. 2010, 38:698-704.
25. Liu X., Zhao P., Tang S., Lu F., Hu J., Lei C., Yang X., Lin Y., Ma S., Yang J., Zhang D., Shi Y., Li T., Chen Y., Fan Y., Yang Z. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. Retina 2010, 30:1177-1184.
26. Maller J., George S., Purcell S., Fagerness J., Altshuler D., Daly M.J., Seddon J.M. Common variation in three genes, including a non-coding variant in CFH, strongly influences risk of age-related macular degeneration. Nat. Genet. 2006, 38:1055-1059.
27. Maller J.B., Fagerness J.A., Reynolds R.C., Neale B.M., Daly M.J., Seddon J.M. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat. Genet. 2007, 39:1200-1201.
28. McKay G.J., Silvestri G., Patterson C.C., Hogg R.E., Chakravarthy U., Hughes A.E. Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2009, 50:533-539.
29. Mullins R.F. Genetic insights into the pathobiology of age-related macular degeneration. Int. Ophthalmol. Clin. 2007, 47:1-14.
30. NCI-NHGRI Working Group on Replication in Association Studies, Chanock S.J., Manolio T., Boehnke M., Boerwinkle E., Hunter D.J., Thomas G., Hirschhorn J.N., Abecasis G., Altshuler D., Bailey-Wilson J.E., Brooks L.D., Cardon L.R., Daly M., Donnelly P., Fraumeni J.F., Freimer N.B., Gerhard D.S., Gunter C., Guttmacher A.E., Guyer M.S., Harris E.L., Hoh J., Hoover R., Kong C.A., Merikangas K.R., Morton C.C., Palmer L.J., Phimister G., Rice P., Roberts J., Rotimi C., Tucker M.A., Vogan K.J., Wacholder S., Wijsman E.M., Winn D.M., Collins F.S. Replicating genotype-phenotype associations. Nature 2007, 447:655-660.
31. Nozaki M., Raisler B.J., Sakurai E., Sarma J.V., Barnum S.R., Lambris J.D., Chen Y., Zhang K., Ambati B.K., Baffi J.Z., Ambati J. Drusen complement components C3a and C5a promote choroidal neovascularization. Proc. Natl. Acad. Sci. USA. 2006, 103:2328-2333.
32. Park K.H., Fridley B.L., Ryu E., Tosakulwong N., Edwards A.O. Complement component 3(C3) haplotypes and risk of advanced age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2009, 50:3386-3393.
33. Pei X.T., Li X.X., Bao Y.Z., Yu W.Z., Yan Z., Qi H.J., Qian T., Xiao H.X. Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population. Curr. Eye Res. 2009, 34:615-622.
34. Rivera A., Fisher S.A., Fritsche L.G., Keilhauer C.N., Lichtner P., Meitinger T., Weber B.H. 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.
35. Smith W., Assink J., Klein R., Mitchell P., Klaver C.C., Klein B.E., Hofman A., Jensen S., Wang J.J., de Jong P.T. Risk factors for age-related macular degeneration: pooled findings from three continents. Ophthalmology 2001, 108:697-704.
36. Spencer K.L., Hauser M.A., Olson L.M., Schmidt S., Scott W.K., Gallins P., Agarwal A., Postel E.A., Pericak-Vance M.A., Haines J.L. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum. Mol. Genet. 2007, 16:1986-1992.
37. Spencer K.L., Olson L.M., Anderson B.M., Schnetz-Boutaud N., Scott W.K., Gallins P., Agarwal A., Postel E.A., Pericak-Vance M.A., Haines J.L. C3 R102G polymorphism increases risk of age-related macular degeneration. Hum. Mol. Genet. 2008, 14:1821-1824.
38. Swaroop A., Branham K.E., Chen W., Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum. Mol. Genet. 2007, 16:R174-182.
39. Thakkinstian A., McKay G.J., McEvoy M., Chakravarthy U., Chakrabarti S., Silvestri G., Kaur I., Li X., Attia J. 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, 173:1365-1379.
40. Tuo J., Bojanowski C.M., Chan C.C. Genetic factors of age- related macular degeneration. Prog. Retin. Eye Res. 2004, 23:229-249.
41. Yang Z., Camp N.J., Sun H., Tong Z., Gibbs D., Cameron D.J., Chen H., Zhao Y., Pearson E., Li X., Chien J., Dewan A., Harmon J., Bernstein P.S., Shridhar V., Zabriske N.A., Hoh J., Howes K., Zhang K. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 2006, 314:992-993.
42. Yates J.R., Sepp T., Matharu B.K., Khan J.C., Thurlby D.A., Shahid H., Clayton D.G., Hayward C., Morgan J., Wright A.F., Armbrecht A.M., Dhillon B., Deary I.J., Redmond E., Bird A.C., Moore A.T., Genetic Factors in AMD study Group Genetic Factors in AMD study Group. Complement C3 variant and the risk of age-related macular degeneration. N. Engl. J. Med. 2007, 357:553-561.