Y402H polymorphism in complement factor H and age-related macula degeneration (AMD);Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD)

Ophthalmologe

Volumn 102, Issue 11, 2005, Pages 1029-1035

  Scholl, H P N ^a   Weber, B H F ^b   Nothen M M ^a   Wienker, T ^a   Holz, F G ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Age related macular degeneration; Association studies; Complement factor H; Sequence variation

Indexed keywords

COMPLEMENT FACTOR H;

ALLELE; ARTICLE; COMPLEMENT ACTIVATION; DNA POLYMORPHISM; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MOLECULAR GENETICS; RETINA MACULA AGE RELATED DEGENERATION; RISK FACTOR; SEQUENCE ANALYSIS;

EID: 27744582443     PISSN: 0941293X     EISSN: 14330423     Source Type: Journal    
DOI: 10.1007/s00347-005-1270-y     Document Type: Article

References (63)

1. Abecasis GR, Yashar BM, Zhao Y et al. (2004) Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 74:482-494
2. Allikmets R, Shroyer NF, Singh N et al. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807
3. Allikmets R, Seddon JM, Bernstein PS et al. (1999) Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet 104:449-453
4. Attebo K, Mitchell P, Smith W (1996) Visual acuity and the causes of visual loss in Australia. The Blue Mountains Eye Study. Ophthalmology 103:357-364
5. Ayyagari R, Zhang K, Hutchinson A et al. (2001) Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet 22:233-239
6. Bressler NM, Bressler SB, West SK, Fine SL, Taylor HR (1989) The grading and prevalence of macular degeneration in Chesapeake Bay watermen. Arch Ophthalmol 107:847-852
7. Cichon S, Freudenberg J, Nöthen MM, Propping P (2002) Variabilität im menschlichen Genom: Bedeutung für die Krankheitsforschung. Dtsch Ärztebl A3091-3101
8. Conley YP, Thalamuthu A, Jakobsdottir J, Weeks DE, Mah T, Ferrell RE, Gorin MB (2005) Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet 14:1991-2002
9. Daiger SP (2005) Genetics. Was the human genome project worth the effort? Science 308:362-364
10. De Jong PT, Klaver CC, Wolfs RC, Assink JJ, Hofman A (1997) Familial aggregation of age-related maculopathy. Am J Ophthalmol 124:862-863
11. Edwards AO, Ritter R, Abel KJ, Manning A, Panhuysen C, Farrer LA (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421-424
12. Esparza-Gordillo J, Soria JM, Buil A, Almasy L, Blangero J, Fontcuberta J, Rodriguez de CS (2004) Genetic and environmental factors influencing the human factor H plasma levels. Immunogenetics 56:77-82
13. Evans JR (2001) Risk factors for age-related macular degeneration. Prog Retin Eye Res 20:227-253
14. Felbor U, Doepner D, Schneider U, Zrenner E, Weber BH (1997) Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Invest Ophthalmol Vis Sci 38:1054-1059
15. Fisher SA, Abecasis GR, Yashar BM et al. (2005) Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14:2257-2264
16. Freudenberg J, Cichon S, Nöthen MM, Propping P (2002) Die neu entdeckte Blockstruktur des menschlichen Genoms. Ein Organisationsprinzip der genetischen Variabilität. Dtsch Ärztebl A3190-3195
17. Gass JD (1973) Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 90:206-217
18. Gorin MB, Breitner JC, de Jong PT, Hageman GS, Klaver CC, Kuehn MH, Seddon JM (1999) The genetics of age-related macular degeneration. Mol Vis 5:29
19. Hageman GS, Luthert PJ, Chong NHV, Johnson LV, Anderson DH, Mullins RF (2001) 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 20:705-732
20. Hageman GS, Anderson DH, Johnson LV et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 102:7227-7232
21. Haines JL, Hauser MA, Schmidt S et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421
22. Heiba IM, Elston RC, Klein BE, Klein R (1994) Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet Epidemiol 11:51-67
23. Hekimi S, Guarente L (2003) Genetics and the specificity of the aging process. Science 299:1351-1354
24. Hyman LG, Lilienfeld AM, Ferris FL, Fine SL (1983) Senile macular degeneration: a case-control study. Am J Epidemiol 118:213-227
25. Iyengar SK, Song D, Klein BE et al. (2004) Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration. Am J Hum Genet 74:20-39
26. Johnson LV, Leitner WP, Staples MK, Anderson DH (2001) Complement activation and inflammatory processes in Drusen formation and age related macular degeneration. Exp Eye Res 73:887-896
27. Klaver CC, Kliffen M, van Duijn CM et al. (1998) Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 63:200-206
28. Klaver CC, Wolfs RC, Assink JJ, van Duijn CM, Hofman A, de Jong PT (1998) Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol 116:1646-1651
29. Klein BE, Klein R, Linton KL (1992) Prevalence of age-related lens opacities in a population. The Beaver Dam Eye Study. Ophthalmology 99:546-552
30. Klein ML, Schultz DW, Edwards A et al. (1998) Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 116:1082-1088
31. Klein R, Klein BE, Tomany SC, Meuer SM, Huang GH (2002) Ten-year incidence and progression of age-related maculopathy: The Beaver Dam eye study. Ophthalmology 109:1767-1779
32. Klein RJ, Zeiss C, Chew EY et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389
33. Kramer F, White K, Pauleikhoff D et al. (2000) Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet 8:286-292
34. Lotery AJ, Munier FL, Fishman GA et al. (2000) Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci 41:1291-1296
35. Majewski J, Schultz DW, Weleber RG et al. (2003) Age-related macular degeneration - a genome scan in extended families. Am J Hum Genet 73:540-550
36. Mitchell P, Smith W, Attebo K, Wang JJ (1995) Prevalence of age-related maculopathy in Australia. The Blue Mountains Eye Study. Ophthalmology 102:1450-1460
37. Mullins RF, Russell SR, Anderson DH, Hageman GS (2000) Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease. FASEB J 14:835-846
38. Ozaki K, Ohnishi Y, Iida A et al. (2002) Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 32:650-654
39. Rivera A, White K, Stohr H et al. (2000) A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet 67:800-813
40. Rodriguez de CS, Esparza-Gordillo J, Goicoechea de JE, Lopez-Trascasa M, Sanchez-Corral P (2004) The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol 41:355-367
41. Sauer CG, White K, Stohr H et al. (2001) Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration. Br J Ophthalmol 85:969-975
42. Schick JH, Iyengar SK, Klein BE et al. (2003) A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study. Am J Hum Genet 72:1412-1424
43. Schmidt S, Saunders AM, De La Paz MA et al. (2000) Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis 6:287-293
44. Schmidt S, Klaver C, Saunders A et al. (2002) A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet 23:209-223
45. Seddon JM, Ajani UA, Mitchell BD (1997) Familial aggregation of age-related maculopathy. Am J Ophthalmol 123:199-206
46. Seddon JM, Santangelo SL, Book K, Chong S, Cote J (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet 73:780-790
47. Seddon JM, Gensler G, Milton RC, Klein ML, Rifai N (2004) Association between C-reactive protein and age-related macular degeneration. JAMA 291:704-710
48. Seddon JM, Cote J, Page WF, Aggen SH, Neale MC (2005) The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol 123:321-327
49. Shastry BS, Trese MT (1999) Evaluation of the peripherin/RDS gene as a candidate gene in families with age-related macular degeneration. Ophthalmologica 213:165-170
50. Silvestri G (1997) Age-related macular degeneration: genetics and implications for detection and treatment. Mol Med Today 3:84-91
51. Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, Lotery AJ, Sheffield VC (1998) Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet 20:328-329
52. Stone EM, Braun TA, Russell SR et al. (2004) Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 351:346-353
53. Stone EM, Lotery AJ, Munier FL et al. (1999) A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 22:199-202
54. Vingerling JR, Dielemans I, Hofman A, Grobbee DE, Hijmering M, Kramer CF, de Jong PT (1995) The prevalence of age-related maculopathy in the Rotterdam Study. Ophthalmology 102:205-210
55. Vingerling JR, Klaver CC, Hofman A, de Jong PT (1995) Epidemiology of age-related maculopathy. Epidemiol Rev 17:347-360
56. Weeks DE, Conley YP, Mah TS et al. (2000) A full genome scan for age-related maculopathy. Hum Mol Genet 9:1329-1349
57. Weeks DE, Conley YP, Tsai HJ et al. (2001) Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am J Ophthalmol 132:682-692
58. Weeks DE, Conley YP, Tsai HJ et al. (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 75:174-189
59. White K, Marquardt A, Weber BH (2000) VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat 15:301-308
60. Yates JR, Moore AT (2000) Genetic susceptibility to age related macular degeneration. J Med Genet 37:83-87
61. Yoshida S, Yashar BM, Hiriyanna S, Swaroop A (2002) Microarray analysis of gene expression in the aging human retina. Invest Ophthalmol Vis Sci 43:2554-2560
62. Zareparsi S, Branham KE, Li M et al. (2005) Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 77:149-153
63. Zareparsi S, Buraczynska M, Branham KE et al. (2005) Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet 14:1449-1455