Haplotypes in the complement factor H (CFH) gene: Associations with drusen and advanced age-related macular degeneration

PLoS ONE

Volumn 2, Issue 11, 2007, Pages

  Francis, Peter J ^a   Schultz, Dennis W ^b   Hamon, Sara ^b   Ott, Jurg ^b   Weleber, Richard G ^a   Klein, Michael L ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H;

ADULT; AGED; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUSEN; FAMILIAL DISEASE; FEMALE; GENE FUNCTION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; RETINA MACULA AGE RELATED DEGENERATION; RISK FACTOR; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; CLINICAL TRIAL; COHORT ANALYSIS; DOUBLE BLIND PROCEDURE; GENETICS; MIDDLE AGED; MULTICENTER STUDY; OPTIC DISK ANOMALY; PATHOLOGY; RETINA MACULA DEGENERATION;

AGED; AGED, 80 AND OVER; COHORT STUDIES; COMPLEMENT FACTOR H; DOUBLE-BLIND METHOD; FEMALE; HAPLOTYPES; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; OPTIC DISK DRUSEN; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 43549091327     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0001197     Document Type: Article

References (27)

1. Klein R, Klein BE, Knudtson MD, Meuer SM, Swift M, et al. (2007) Fifteen-year cumulative incidence of age-related macular degeneration: the Beaver Dam Eye Study. Ophthalmology 114(2): 253-62.
2. Klein R, Klein BE, Jensen SC, Meuer SM (1997) The five-year incidence and progression of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology 104: 7-21.
3. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haines C, et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389.
4. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, 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.
5. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308: 419-421.
6. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, et al. (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308: 421-424.
7. Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, etal. (2005) Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degancration. Am J Hum Genet. 77: 149-153.
8. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 77: 389-407.
9. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, et al. (2005) 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 14: 3227-3236.
10. Schmidt S, Hauser MA, Scott WK, Postel EA, Agarwal A, et al. (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet 78: 852-864.
11. Haddad S, Chen CA, Santangelo SL, Seddon JM (2006) The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol 51: 316-363.
12. Dewan A, Liu M, Haruman S, Zhang SS, Liu DT, Zhao C, et al. (2006) HTRA1 promoter polymorphism, in wet age-related macular degeneration. Science 314(5801): 989-92.
13. Maller J, George S, Purcell S, Fagerness J, Altshuler D, et al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macidar degeneration. Nat Genet 38: 1055-1059.
14. Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, et al. (2006) CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 38: 1049-1054.
15. Gold P., Merriam JE, Zernant J, Hanconx IS, Taiber AJ, et al. (2006) Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 38: 458-462.
16. Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A (2005) Toll-like receptor 4 variant D299G is associated with susceptibility to agr-related macular degeneration. Hum Mol Genet. 14(11): 1449-55.
17. Schultz DW, Weleber RG, Lawrence G, Barral S, Majewski J, et al. (2005) HEMICENTIN-1 (FIBULIN-6) and the lq31 AMD locus in the context of complex disease: review and perspective. Ophthalmic Genet 26: 101-105.
18. Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, et al. (2003) Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet 12: 3315-3323.
19. Magnusson KP, Duan S, Sigurdsson H, Petursson H, Yang Z, et al. (2006) CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med 3(1): e5.
20. Giannakis E, Jokiranta TS, Male DA, Ranganathan S, Ormsby RJ, et al. (2003) A common site within factor H SCR 7 responsible for binding heparin, C-reactive protein and streptococcal M protein. Eur J Immunol 33: 962-969.
21. Barral S, Francis PJ, Schultz DW, Schain MB, Haynes C, et al. (2006) Expanded genome scan in extended families with age-related macular degeneration. Invest Ophthalmol Vis Sci 47: 5453-5459.
22. Majewski J, Schultz DW, Weleber RG, Schain NO, Edwards AO, et al. (2003) Age-related macular degeneration-a genome scan in extended families. Am J Hum Genet 73: 540-550.
23. AREDS Study group (1999) The Age-Related Eye Disease Study (AREDS): design implications. AREDS report no. 1. Control Clin Trials 20: 573-600.
24. AREDS Study Group (2000) 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 107: 2224-2232.
25. AREDS Study Group (2001) A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no 8, Arch. Ophthalmol 119: 1417-1436.
26. Horvath S, Xu X, Lake S, Silverman E, Weiss S, Laird N (2004) Tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 26: 61-69.
27. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland CA (20024) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70: 425-434.