Validation of a prediction algorithm for progression to advanced macular degeneration subtypes

JAMA Ophthalmology

Volumn 131, Issue 4, 2013, Pages 448-455

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

^a TUFTS MEDICAL CENTER   (United States)

^b TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGE DISTRIBUTION; AGED; ALGORITHM; ARTICLE; BODY MASS; DEMOGRAPHY; DISEASE ASSOCIATION; DISEASE COURSE; EDUCATIONAL STATUS; ENVIRONMENTAL FACTOR; EYE EXAMINATION; FEMALE; FOLLOW UP; GENOTYPE; GEOGRAPHIC ATROPHY; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEOVASCULAR DISEASE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RISK FACTOR; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; VALIDITY;

AGED; AGED, 80 AND OVER; ALGORITHMS; AREA UNDER CURVE; COMPLEMENT C2; COMPLEMENT C3; COMPLEMENT FACTOR B; COMPLEMENT FACTOR H; DISEASE PROGRESSION; FALSE POSITIVE REACTIONS; FEMALE; FOLLOW-UP STUDIES; GENOTYPING TECHNIQUES; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MODELS, THEORETICAL; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; PROPORTIONAL HAZARDS MODELS; PROTEINS; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SERINE ENDOPEPTIDASES; VISUAL ACUITY;

EID: 84876209021     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.2578     Document Type: Article

References (36)

1. Seddon JM, George S, Rosner B, Klein ML. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macu-lar degeneration. Hum Hered. 2006;61(3):157-165.
2. 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(9):1055-1059.
3. Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, Klein ML. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA. 2007;297(16):1793-1800.
4. Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Oph-thalmol Vis Sci. 2009;50(5):2044-2053.
5. Reynolds R, Hartnett ME, Atkinson JP, Giclas PC, Rosner B, Seddon JM. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci. 2009;50(12):5818-5827.
6. Seddon JM, Reynolds R, Yu Y, Daly MJ, Rosner B. Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology. 2011;118(11):2203- 2211.
7. Yu Y, Reynolds R, Rosner B, Daly MJ, Seddon JM. Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. Invest Ophthalmol Vis Sci. 2012;53 (3):1548-1556.
8. Age-Related Eye Disease Study Research Group. 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. 2001;119(10):1417-1436.
9. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet. 2007;39(10):1200-1201.
10. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009;17(1):100-104.
11. Seddon JM, Cote J, Davis N, Rosner B. Progression of age-related macular degeneration: association with body mass index, waist circumference, and waist-hip ratio. Arch Ophthalmol. 2003;121(6):785-792.
12. Seddon JM, Santangelo SL, Book K, Chong S, Cote J. A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet. 2003;73(4):780-790.
13. Seddon JM, Cote J, Page WF, Aggen SH, Neale MC. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol. 2005;123(3):321-327.
14. Seddon JM, Sharma S, Adelman RA. Evaluation of the clinical age-related macu-lopathy staging system. Ophthalmology. 2006;113(2):260-266.
15. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308(5720):385-389.
16. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005; 308(5720):421-424.
17. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308(5720):419-421.
18. 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 U S A. 2005;102(20):7227- 7232.
19. 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(3):389-407.
20. 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 (21):3227-3236.
21. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314(5801):989-992.
22. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314(5801):992-993.
23. Kanda A, Chen W, Othman M, et al. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A. 2007;104(41):16227-16232.
24. Gold B, Merriam JE, Zernant J, et al; AMD Genetics Clinical Study Group. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38(4):458-462.
25. Yates JR, Sepp T, Matharu BK, et al; Genetic Factors in AMD Study Group. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007;357(6):553-561.
26. Hanley JA, McNeil BJ. The meaning and use of the area under a receiver operating characteristic (ROC) curve. Radiology. 1982;143(1):29-36.
27. Rosner B, Glynn RJ. Power and sample size estimation for the Wilcoxon rank sum test with application to comparisons of C statistics from alternative prediction models. Biometrics. 2009;65(1):188-197.
28. Choi BC. Slopes of a receiver operating characteristic curve and likelihood ratios for a diagnostic test. Am J Epidemiol. 1998;148(11):1127-1132.
29. Sobrin L, Reynolds R, Yu Y, et al. ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. Am J Ophthalmol. 2011;151(2):345-352, e3.
30. Sobrin L, Ripke S, Yu Y, et al. Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology. 2012;119(9):1874-1885.
31. Neale BM, Fagerness J, Reynolds R, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic li-pase gene (LIPC). Proc Natl Acad Sci U S A. 2010;107(16):7395-7400.
32. Reynolds R, Rosner B, Seddon JM. Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration. Ophthalmology. 2010; 117(10):1989-1995.
33. Seddon JM, Reynolds R, Rosner B. Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration. Mol Vis. 2010;16:2412-2424.
34. Yu Y, Bhangale TR, Fagerness J, et al. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet. 2011;20(18):3699-3709.
35. Klein ML, Francis PJ, Ferris FL III, Hamon SC, Clemons TE. Risk assessment model for development of advanced age-related macular degeneration. Arch Ophthalmol. 2011;129(12):1543-1550.
36. Ying GS, Maguire MG; Complications of Age-Related Macular Degeneration Prevention Trial Research Group. Development of a risk score for geographic atrophy in Complications of Age-Related Macular Degeneration Prevention Trial. Ophthalmology. 2011;118(2):332-338.