Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 9, 2012, Pages 5846-5852

  Lechanteur, Yara T E ^a   van de Ven, Johannes P H ^a   Smailhodzic, Dzenita ^a   Boon, Camiel J F ^a   Klevering, B Jeroen ^a   Fauser, Sascha ^b   Groenewoud, Joannes M M ^a   van der Wilt, Gert Jan ^a   den Hollander, Anneke I ^a,c   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF COLOGNE   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BEHAVIOR; DISEASE COURSE; EYE FUNDUS; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENETIC ANALYSIS; GENETIC VARIABILITY; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETROSPECTIVE STUDY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; BODY MASS; EDUCATIONAL STATUS; GENETIC MARKER; GENETICS; HEALTH BEHAVIOR; MIDDLE AGED; QUESTIONNAIRE; RETINA MACULA DEGENERATION; SMOKING; SOCIOECONOMICS; SURVIVAL RATE;

COMPLEMENT FACTOR I; LIPOPROTEIN LIPASE;

AGED; AGED, 80 AND OVER; BODY MASS INDEX; COMPLEMENT FACTOR I; DISEASE PROGRESSION; EDUCATIONAL STATUS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENETIC MARKERS; HEALTH BEHAVIOR; HUMANS; LIPOPROTEIN LIPASE; MACULAR DEGENERATION; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; QUESTIONNAIRES; RETROSPECTIVE STUDIES; RISK FACTORS; SMOKING; SOCIOECONOMIC FACTORS; SURVIVAL RATE;

EID: 84871241278     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7731     Document Type: Article

References (57)

1. Klein R, Klein BE, Linton KL. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology. 1992;99:933-943.
2. Age-Related Eye Disease Study Research Group. Risk factors associated with age-related macular degeneration. A casecontrol study in the age-related eye disease study: Age-Related Eye Disease Study Report Number 3. Ophthalmology. 2000; 107:2224-2232.
3. Eye Disease Case-Control Study Group. Risk factors for neovascular age-related macular degeneration. Arch Ophthalmol. 1992;110:1701-1708.
4. Eye Disease Case-Control Study Group. Antioxidant status and neovascular age-related macular degeneration. Arch Ophthalmol. 1993;111:104-109.
5. Clemons TE, Milton RC, Klein R, Seddon JM, Ferris FL III. Risk factors for the incidence of Advanced Age-Related Macular Degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19. Ophthalmology. 2005;112:533-539.
6. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389.
7. Lee SJ, Kim NR, Chin HS. LOC387715/HTRA1 polymorphisms, smoking, and combined effects on exudative age-related macular degeneration in a Korean population. Clin Experiment Ophthalmol. 2010;38:698-704.
8. Smith W, Mitchell P, Leeder SR. Smoking and age-related maculopathy. The Blue Mountains Eye Study. Arch Ophthalmol. 1996;114:1518-1523.
9. Thakkinstian A, Han P, McEvoy M, 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.
10. Vingerling JR, Hofman A, Grobbee DE, de Jong PT. Age-related macular degeneration and smoking. The Rotterdam Study. Arch Ophthalmol. 1996;114:1193-1196.
11. Macular Photocoagulation Study Group. Five-year follow-up of fellow eyes of patients with age-related macular degeneration and unilateral extrafoveal choroidal neovascularization. Arch Ophthalmol. 1993;111:1189-1199.
12. Macular Photocoagulation Study Group. Risk factors for choroidal neovascularization in the second eye of patients with juxtafoveal or subfoveal choroidal neovascularization secondary to age-related macular degeneration. Arch Ophthalmol. 1997;115:741-747.
13. Solomon SD, Jefferys JL, Hawkins BS, Bressler NM. Incident choroidal neovascularization in fellow eyes of patients with unilateral subfoveal choroidal neovascularization secondary to age-related macular degeneration: SST report No. 20 from the Submacular Surgery Trials Research Group. Arch Ophthalmol. 2007;125:1323-1330.
14. Prenner JL, Rosenblatt BJ, Tolentino MJ, et al. Risk factors for choroidal neovascularization and vision loss in the fellow eye study of CNVPT. Retina. 2003;23:307-314.
15. Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, Klein ML. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA. 2007; 297:1793-1800.
16. Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci. 2009;50:2044-2053.
17. Solomon SD, Jefferys JL, Hawkins BS, Bressler NM, Bressler SB. Risk factors for second eye progression to advanced agerelated macular degeneration: SST report No. 21 Submacular Surgery Trials Research Group. Retina. 2009;29:1080-1090.
18. Swaroop A, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet. 2007; 16 Spec No. 2:R174-82.
19. Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995;39: 367-374.
20. Bressler NM, Bressler SB, Congdon NG, et al. Potential public health impact of Age-Related Eye Disease Study results: AREDS report no. 11. Arch Ophthalmol. 2003;121:1621-1624.
21. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science. 2005;308:421-424.
22. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
23. Scholl HP, Weber BH, Nothen MM, Wienker T, Holz FG. [Y402H polymorphism in complement factor H and agerelated macular degeneration (AMD)]. Ophthalmologe. 2005; 102:1029-1035.
24. Fritsche LG, Loenhardt T, Janssen A, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008;40:892-896.
25. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for agerelated macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005; 14:3227-3236.
26. Yang Z, Tong Z, Chen Y, et al. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet. 2010;6:e1000836.
27. 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;46:300-307.
28. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38:458-462.
29. Spencer KL, Hauser MA, Olson LM, et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007; 16:1986-1992.
30. Despriet DD, van Duijn CM, Oostra BA, et al. Complement component C3 and risk of age-related macular degeneration. Ophthalmology. 2009;116:474-480.
31. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet. 2007;39:1200-1201.
32. Park KH, Fridley BL, Ryu E, Tosakulwong N, Edwards AO. Complement component 3 (C3) haplotypes and risk of advanced age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50:3386-3393.
33. Yates JR, Sepp T, Matharu BK, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007;357:553-561.
34. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009;17:100-104.
35. Ennis S, Gibson J, Cree AJ, Collins A, Lotery AJ. Support for the involvement of complement factor I in age-related macular degeneration. Eur J Hum Genet. 2010;18:15-16.
36. Li M, Atmaca-Sonmez P, Othman M, et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet. 2006;38:1049-1054.
37. Maller J, George S, Purcell S, et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet. 2006;38:1055-1059.
38. Ennis S, Jomary C, Mullins R, et al. Association between the SERPING1 gene and age-related macular degeneration: a twostage case-control study. Lancet. 2008;372:1828-1834.
39. Lee AY, Kulkarni M, Fang AM, Edelstein S, Osborn MP, Brantley MA. The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration. Br J Ophthalmol. 2010;94:915-917.
40. Chen W, Stambolian D, Edwards AO, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010;107:7401-7406.
41. Neale BM, Fagerness J, Reynolds R, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A. 2010;107:7395-7400.
42. Fauser S, Smailhodzic D, Caramoy A, et al. Evaluation of serum lipid concentrations and genetic variants at high-density lipoprotein metabolism loci and TIMP3 in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011;52:5525-5528.
43. Yang Z, Stratton C, Francis PJ, et al. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med. 2008;359:1456-1463.
44. Zhou P, Fan L, Yu KD, Zhao MW, Li XX. Toll-like receptor 3 C1234T may protect against geographic atrophy through decreased dsRNA binding capacity. FASEB J. 2011;25:3489-3495.
45. 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;45:1311-1315.
46. Fritsche LG, Freitag-Wolf S, Bettecken T, et al. Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Hum Mutat. 2009;30: 1048-1053.
47. Klaver CC, Kliffen M, van Duijn CM, et al. Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet. 1998;63:200-206.
48. Peter I, Huggins GS, Ordovas JM, Haan M, Seddon JM. Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study. Am J Ophthalmol. 2011; 152:1005-1013. e1001.
49. Hawkins JR, Khripin Y, Valdes AM, Weaver TA. Miniaturized sealed-tube allele-specific PCR. Hum Mutat. 2002;19:543-553.
50. Kuczmarski MF, Kuczmarski RJ, Najjar M. Effects of age on validity of self-reported height, weight, and body mass index: findings from the Third National Health and Nutrition Examination Survey, 1988-1994. J Am Diet Assoc. 2001;101:28-34.
51. Shields M, Gorber SC, Tremblay MS. Estimates of obesity based on self-report versus direct measures. Health Rep. 2008;19: 61-76.
52. Vailas LI, Nitzke SA. Self-reported versus measured weight and height in an older adult meal program population. J Gerontol A Biol Sci Med Sci. 1998;53:M481-M483.
53. Meng H, He XZ, Dixon D. Self-reported versus measured height and weight in the health and retirement study. J Am Geriatr Soc. 2010;58:412-413.
54. 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;119:571-580.
55. Boon CJ, van de Kar NC, Klevering BJ, et al. The spectrum of phenotypes caused by variants in the CFH gene. Mol Immunol. 2009;46:1573-1594.
56. Jha P, Bora PS, Bora NS. The role of complement system in ocular diseases including uveitis and macular degeneration. Mol Immunol. 2007;44:3901-3908.
57. Schmitz-Valckenberg S, Alten F, Steinberg JS, et al. Reticular drusen associated with geographic atrophy in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011;52: 5009-5015.