Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Seddon, Johanna M ^a   Reynolds, Robyn ^a   Yu, Yi ^a   Rosner, Bernard ^b  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HARVARD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; COL8A1 GENE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE COURSE; FEMALE; GENE; GENE FUNCTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC RISK; GENETIC VARIABILITY; GEOGRAPHIC ATROPHY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; R1210C GENE; RAD51B GENE; RETINA MACULA DEGENERATION; RETINA NEOVASCULARIZATION;

AGED; COLLAGEN TYPE VIII; COMPLEMENT FACTOR H; DISEASE PROGRESSION; DNA-BINDING PROTEINS; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LONGITUDINAL STUDIES; MACULAR DEGENERATION; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROSPECTIVE STUDIES; RISK FACTORS; SURVIVAL ANALYSIS;

EID: 84899089624     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0087047     Document Type: Article

References (35)

1. 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. (Pubitemid 41007575)
2. Lim LS, Mitchell P, Seddon JM, Holz FG, Wong TY (2012) Age-related macular degeneration. Lancet 379: 1728-1738.
3. Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, et al. (2011) A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet 43: 1232-1236.
4. Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, et al. (2010) 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 107: 7395-7400.
5. Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, et al. (2011) Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet 20: 3699-3709.
6. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, et al. (2013) Seven new loci associated with age-related macular degeneration. Nat Genet 45: 433-439, 439e431-432.
7. Arakawa S, Takahashi A, Ashikawa K, Hosono N, Aoi T, et al. (2011) Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet 43: 1001-1004.
8. (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.
9. Seddon JM, Sharma S, Adelman RA (2006) Evaluation of the clinical age-related maculopathy staging system. Ophthalmology 113: 260-266. (Pubitemid 43170775)
10. Klein RJ, Zeiss C, Chew EY, Tsai J-Y, Sackler RS, et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389. (Pubitemid 40530070)
11. 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 macular degeneration. Nat Genet 38: 1055-1059. (Pubitemid 44325932)
12. 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. (Pubitemid 41192646)
13. 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. (Pubitemid 41631297)
14. DeWan A, Liu M, Hartman S, Zhang SS-M, Liu DT, et al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314: 989-992. (Pubitemid 44749943)
15. Gold B, Merriam JE, Zernant J, Hancox LS, 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. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet 39: 1200-1201. (Pubitemid 47482689)
17. Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, et al. (2007) Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 357: 553-561. (Pubitemid 47236280)
18. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, et al. (2009) Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet 17: 100-104.
19. Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, et al. (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A 107: 7401-7406.
20. Klaver CC, Kliffen M, van Duijn CM, Hofman A, Cruts M, et al. (1998) Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 63: 200-206. (Pubitemid 30428336)
21. Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde J-P, et al. (1998) The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol 125: 353-359. (Pubitemid 28124364)
22. Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, et al. (2009) Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci 50: 2044-2053.
23. Seddon JM, Reynolds R, Yu Y, Daly MJ, Rosner B (2011) Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology 118: 2203-2211.
24. Seddon JM, Reynolds R, Yu Y, Rosner B (2013) Validation of a prediction algorithm for progression to advanced macular degeneration subtypes. JAMA Ophthalmol 131: 448-455.
25. Hanely J, McNeil B (1982) The meaning and use of the area under a receiver operating characteristic (ROC) curve. Radiology 143: 29-36.
26. Rosner B, Glynn R (2009) Power and sample size estimation for the Wilcoxon rank sum test with application to comparisons of C statistics from alternative prediction models. Biometrics 65: 188-197.
27. Cook NR, Buring JE, Ridker PM (2006) The effect of including C-reactive protein in cardiovascular risk prediction models for women. Annals of Internal Medicine 145: 21-29. (Pubitemid 46780601)
28. Seddon JM, George S, Rosner B, Klein ML (2006) CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered 61: 157-165. (Pubitemid 44385444)
29. Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, et al. (2007) Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA 297: 1793-1800. (Pubitemid 46658648)
30. Yu Y, Reynolds R, Rosner B, Daly MJ, Seddon JM (2012) Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. Invest Ophthalmol Vis Sci 53: 1548-1556.
31. Reynolds R, Hartnett ME, Atkinson JP, Giclas PC, Rosner B, et al. (2009) Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci 50: 5818-5827.
32. Rosner B, Colditz GA, Iglehart JD, Hankinson SE (2008) Risk prediction models with incomplete data with application to prediction of estrogen receptor-positive breast cancer: prospective data from the Nurses' Health Study. Breast Cancer Res 10: R55.
33. Tamura Y, Konomi H, Sawada H, Takashima S, Nakajima A (1991) Tissue distribution of type VIII collagen in human adult and fetal eyes. Invest Ophthalmol Vis Sci 32: 2636-2644.
34. Suwaki N, Klare K, Tarsounas M. RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis; 2011. Elsevier. 898-905.
35. Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, et al. (2013) Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet 45: 1366-1370.