Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 11, 2007, Pages 5315-5319

  Mori, Keisuke ^a   Gehlbach, Peter L ^b   Kabasawa, Sho ^a   Kawasaki, Izumi ^a   Oosaki, Masataka ^a   Iizuka, Hiroyuki ^a   Katayama, Shigehiro ^a   Awata, Takuya ^a   Yoneya, Shin ^a  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENT FACTOR H, HUMAN; UNCLASSIFIED DRUG; UNTRANSLATED RNA;

ADULT; AGED; ARTICLE; CIGARETTE SMOKING; CONTROLLED STUDY; DISEASE ASSOCIATION; ENVIRONMENTAL FACTOR; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; JAPANESE; LIFESTYLE; MAJOR CLINICAL STUDY; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; QUESTIONNAIRE; RETINA MACULA AGE RELATED DEGENERATION; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; FEMALE; GENE FREQUENCY; GENETICS; JAPAN; MALE; MIDDLE AGED; OPEN READING FRAME; RETINA MACULA DEGENERATION; SMOKING;

AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; COMPLEMENT FACTOR H; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INTRONS; JAPAN; MACULAR DEGENERATION; MALE; MIDDLE AGED; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; RNA, UNTRANSLATED; SMOKING;

EID: 38449110220     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.07-0426     Document Type: Article

References (42)

1. Klein R, Peto T, Bird A, Vannewkirk MR. The epidemiology of age-related macular degeneration. Am J Ophthalmol. 2004;137:486-495.
2. 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.
3. Age-Related Eye Disease Study Research Group. Risk factors for the incidence of advanced age-related macular degeneration in the Age-Related Eye Disease Study. AREDS report no. 19. Am J Ophthalmol. 2005;112:533-539.
4. Smith W, Assink J, Klein R, et al. Risk factors for age-related macular degeneration: pooled findings from three continents. Ophthalmology. 2001;108:697-704.
5. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389.
6. 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.
7. Edwards AO, Ritter R, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421-424.
8. Zareparsi S, Branham KEH, 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 Hum Genet. 2005;77:149-153.
9. Hageman GS, Anderson DH, Johnson LV, 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 USA. 2005;102:7227-7232.
10. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77:389-407.
11. Rivera A, Fisher SA, Fritsche LG, 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.
12. Schmidt S, Hauser MA, Scott WK, et al. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet. 2006;78:852-864.
13. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314:989-992.
14. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314:992-993.
15. Souied EH, Levezeil N, Richard F, et al. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis. 2005;11:1135-1140.
16. Sepp T, Khan JC, Thurlby DA, 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. 2006;47:536-540.
17. 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. 2006;90:1142-1145.
18. Seitsonen S, Lemmela S, Holopainen J, et al. Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. Mol Vis. 2006;12:796-801.
19. 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. 2006;47:3729-3735.
20. Okamoto H, Umeda S, Obazawa M, et al. Complement factor H polymorphisms in Japanese population with age-related macular degeneration. Mol Vis. 2006;12:156-158.
21. 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. 2006;120:139-143.
22. 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. 2006;26:985-987.
23. Fuse N, Miyazawa A, Mengkegale M, et al. Polymorphisms in complement factor H and hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. Am J Ophthalmol. 2006;142:1074-1076.
24. Lau LI, Chen SJ, Cheng CY, 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.
25. Chen LJ, Liu DT, Chan WM, et al. Association of complement factor H polymorphisms with exudative age-related macular degeneration. Mol Vis. 2006;12:1536-1542.
26. Grassi MA, Fingert JH, Scheetz TE, et al. Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Hum Mutat. 2006;27:921-925.
27. Consortium TIH. The International HapMap Project. Nature. 2003;426:789-796.
28. Chang TS, Hay D, Courtright P. Age-related macular degeneration in Chinese-Canadians. Can J Ophthalmol. 1999;34:266-271.
29. Uyama M, Wada M, Nagai Y, et al. Polypoidal choroidal vasculopathy: natural history. Am J Ophthalmol. 2002;133:639-648.
30. Sho K, Takahashi K, Yamada H, et al. Polypoidal vasculopathy: incidence, demographic features, and clinical characteristics. Arch Ophthalmol. 2003;121:1392-1396.
31. Bird AC. The Bowman lecture: towards an understanding of age-related macular disease. Eye. 2003;17:457-466.
32. 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.
33. 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.
34. Ennis S, Goverdhan S, Cree A, Hoh J, Collins A, Lotery AJ. Fine-scale linkage disequilibrium mapping of age related macular degeneration in the complement factor H gene region. Br J Ophthalmol. 2007;91:966-970.
35. Gordon D, Finch SJ, Nothnagel M, Ott J. Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms. Hum Hered. 2002;54:22-33.
36. Hsu WM, Cheng CY, Liu JH, Tsai SY, Chou P. Prevalence and causes of visual impairment in an elderly Chinese population in Taiwan: the Shihpai Eye Study. Ophthalmology. 2004;111:62-69.
37. Miyazaki M, Kiyohara Y, Yoshida A, Iida M, Nose Y, Ishibashi T. The 5-year incidence and risk factors for age-related maculopathy in a general Japanese population: the Hisayama study. Invest Ophthalmol Vis Sci. 2005;46:1907-1910.
38. Schachat AP, Hyman L, Keske MC, Connell AM, Wu SY. Features of age-related macular degeneration in a black population: the Barbados Eye Study Group. Arch Ophthalmol. 1995;113:728-735.
39. Uyama M, Takahashi K, Ida N, et al. The second eye of Japanese patients with unilateral exudative age related macular degeneration. Br J Ophthalmol. 2000;84:1018-1023.
40. Despriet DD, Klaver CC, Witteman JC, et al. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA. 2006;296:301-309.
41. Conley YP, Jakobsdottir JH, Mah T, 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.
42. Seddon JM, George S, Rosner B, Klein ML. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2006;61:157-165.