Clinical Phenotypes Associated with the Complement Factor H Y402H Variant in Age-related Macular Degeneration

American Journal of Ophthalmology

Volumn 144, Issue 3, 2007, Pages

  Brantley, Milam A ^a,b   Edelstein, Sean L ^a   King, Jennifer M ^a   Apte, Rajendra S ^a,b   Kymes, Steven M ^a   Shiels, Alan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BARNES RETINA INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EYE EXAMINATION; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE FREQUENCY; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA MACULA AGE RELATED DEGENERATION;

EID: 34548257195     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2007.05.018     Document Type: Article

References (30)

1. Mullins R.F., Russell S.R., Anderson D.H., and Hageman G.S. 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 (2000) 835-846
2. Hageman G.S., Luthert P.J., Chong V.N.H., et al. 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 (2001) 705-732
3. Anderson D.H., Mullins R.F., Hageman G.S., and Johnson L.V. A role for local inflammation in the formation of drusen in the aging eye. Am J Ophthalmol 134 (2002) 411-431
4. Donoso L.A., Kim D., Frost A., et al. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol 51 (2006) 137-152
5. Edwards A.O., Ritter III R., Abel K.J., et al. Complement factor H polymorphism and age-related macular degeneration. Science 308 (2005) 421-424
6. Haines J.L., Hauser M.A., Schmidt S., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308 (2005) 419-421
7. Klein R.J., Zeiss C., Chew E.Y., et al. Complement factor H polymorphism in age-related macular degeneration. Science 308 (2005) 385-389
8. Hageman G.S., Anderson D.H., Johnson L.V., et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A 102 (2005) 7227-7232
9. Zareparsi S., Branham K.E.H., Li M., et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Human Genet 77 (2005) 149-153
10. Souied E.H., Levziel N., Richard F., et al. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis 11 (2005) 1135-1140
11. Magnusson K.P., Duan S., Sigurdsson H., et al. CHF Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med 3 (2006) e5
12. Sepp T., Khan J.C., Thurlby D.A., et al. Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci 47 (2006) 536-540
13. Schaumberg D.A., Christen W.G., Kozlowski P., et al. A prospective assessment of the Y402H variant in complement factor H, genetic variants in c-reactive protein, and risk of age-related macular degeneration. Invest Ophthalmol Vis Sci 47 (2006) 2336-2340
14. Simonelli F., Frisso G., Testa F., et al. Polymorphism p.402Y→H in the complement factor H protein is a risk factor for age-related macular degeneration in an Italian population. Br J Ophthalmol 90 (2006) 1142-1145
15. Despriet D.D.G., Klaver C.C.W., Witteman J.C.M., et al. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 296 (2006) 301-309
16. Lau L.-I., Chen S.-J., Cheng C.-Y., 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 47 (2006) 3242-3246
17. Postel E.A., Agarwal A., Caldwell J., et al. Complement factor H increases risk for atrophic age-related macular degeneration. Ophthalmology 113 (2006) 1504-1507
18. Kaur I., Hussain A., Hussain N., et al. Analysis of CFh, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration. Invest Ophthalmol Vis Sci 47 (2006) 3729-3735
19. Seddon J.M., George S., Rosner B., and Klein M.L. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered 61 (2006) 157-165
20. Gotoh N., Yamada R., Hiratani H., et al. No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Hum Genet 120 (2006) 139-143
21. Uka J., Tamura H., Kobayashi T., et al. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina 26 (2006) 985-987
22. Thakkinstian A., Han P., McEvoy M., et al. Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet 15 (2006) 2784-2790
23. 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 38 (2006) 1049-1054
24. 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 38 (2006) 1055-1059
25. Gold B., Merriam J.E., Zernant J., et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 38 (2006) 458-462
26. Shuler R.K., Hauser M.A., Caldwell J., et al. Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphisms. Arch Ophthalmol 125 (2007) 63-67
27. Age-Related Eye Disease Study 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 No 3. Ophthalmology 107 (2000) 2224-2232
28. Pauleikhoff D. Neovascular age-related macular degeneration. Retina 25 (2005) 10065-10084
29. Haddad W.M., Coscas G., and Soubrane G. Eligibility for treatment and angiographic features at the early stage of exudative age-related macular degeneration. Br J Ophthalmol 86 (2002) 663-669
30. Gragoudas E.S., Adamis A.P., Cunningham Jr. E.T., et al. Pegaptanib for neovascular age-related macular degeneration. N Engl J Med 351 (2004) 2805-2816