Applying genetic risk data to clinical practice: A predictive test may help in identifying the risk of developing advanced AMD

Retina Today

Volumn , Issue APRIL, 2011, Pages 78-79

  Awh, Carl C ^a   Zanke, Brent ^b  

^a Tennessee Retina   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

EID: 81155141420     PISSN: None     EISSN: 18250572     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Sachidanandam R, Weissman D, Schmidt SC, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409(6822):928-933.
2. Bernstein BE, Meissner A, Lander ES. The mammalian epigenome. Cell. 2007;23;128(4):669-681.
3. Haines JL, Spencer KM, Pericak-Vance MA. Bringing the genetics of macular degeneration into focus. Proc Natl Acad Sci USA. 2007;104(43):16725-16726.
4. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308(5720):385-389.
5. 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.
6. 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.
7. 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.
8. Yates JR, Sepp T, Matharu BK, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007;357(6):553-561.
9. Francis PJ, Hamon SC, Ott J, Weleber RG, Klein ML. Polymorphisms in C2, CFB and C3 are associated with progression to advanced age-related macular degeneration associated with visual loss. J Med Genet. 2009;46(5):300-307.
10. Jakobsdottir J, Conley YP, Weeks DE, Ferrell RE, Gorin MB. C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS ONE. 2008;3(5):e2199.
11. Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, Wade MS, et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to agerelated macular degeneration. Nat Genet. 2006;38(9):1049-1054.
12. Chen W, Stambolian D, Edwards AO, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010; 20;107(16):7401-746.
13. Neale BM, Fagerness J, Reynolds R, et al. 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. 2010;107(16):7395-7400.
14. Connor WE, Duell PB, Kean R, Wang Y. The prime role of HDL to transport lutein into the retina: evidence from HDL-deficient WHAM chicks having a mutant ABCA1 transporter. Invest Ophthalmol Vis Sci. 2007;48(9):4226-4231.
15. Seddon JM, Ajani UA, Sperduto RD, et al. Dietary carotenoids, vitamins A, C, and E, and advanced age-related macular degeneration. Eye Disease Case-Control Study Group. JAMA. 1994;272(18):1413-1420.
16. Canter JA, Olson LM, Spencer K, et al. Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration. PLoS ONE. 2008;3(5):e2091.
17. Udar N, Atilano SR, Memarzadeh M, et al. Mitochondrial DNA haplogroups associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50(6):2966-2974.
18. Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA, et al. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet. 2004;75(2):174-189.
19. Fritsche LG, Loenhardt T, Janssen A, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008;40(7):892-896.