Association assessment of copy number polymorphism and risk of age-related macular degeneration

Ophthalmology

Volumn 118, Issue 12, 2011, Pages 2442-2446

  Sawitzke, Julie ^a   Im, Kate M ^b   Kostiha, Brittany ^b   Dean, Michael ^b   Gold, Bert ^b  

^a SAIC FREDERICK INC   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H;

ARTICLE; CASE CONTROL STUDY; CAUCASIAN; CEREBROVASCULAR DISEASE; CONTROLLED STUDY; COPY NUMBER VARIATION; DRUSEN; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

BLOOD PROTEINS; CASE-CONTROL STUDIES; COMPLEMENT C3B INACTIVATOR PROTEINS; COMPLEMENT FACTOR H; DNA COPY NUMBER VARIATIONS; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GEOGRAPHIC ATROPHY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; RISK FACTORS; WET MACULAR DEGENERATION;

EID: 82755182788     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2011.05.027     Document Type: Article

References (14)

1. J.M. Seddon, U.A. Ajani, and B.D. Mitchell Familial aggregation of age-related maculopathy Am J Ophthalmol 123 1997 199 206 (Pubitemid 27066775)
2. A.O. Edwards, R. Ritter III, and K.J. Abel Complement factor H polymorphism and age-related macular degeneration Science 308 2005 421 424 (Pubitemid 40530082)
3. J.L. Haines, M.A. Hauser, and S. Schmidt Complement factor H variant increases the risk of age-related macular degeneration Science 308 2005 419 421 (Pubitemid 40530081)
4. P.F. Zipfel Complement and immune defense: from innate immunity to human diseases Immunol Lett 126 2009 1 7
5. M.J. Tolentino, S. Miller, A.R. Gaudio, and M.A. Sandberg Visual field deficits in early age-related macular degeneration Vision Res 34 1994 409 413 (Pubitemid 24031161)
6. G.S. Hageman, L.S. Hancox, A.J. Taiber AMD Clinical Study Group Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications Ann Med 38 2006 592 604 (Pubitemid 46292019)
7. J. Bergeron-Sawitzke, B. Gold, and A. Olsh Multilocus analysis of age-related macular degeneration Eur J Hum Genet 17 2009 1190 1199
8. P. Mitchell, and S. Foran Age-Related Eye Disease Study severity scale and simplified severity scale for age-related macular degeneration Arch Ophthalmol 123 2005 1598 1599 (Pubitemid 41626699)
9. S. Raychaudhuri, S. Ripke, and M. Li Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent [letter] Nat Genet 42 2010 553 555 author reply 5556
10. J.C. Barrett, B. Fry, J. Maller, and M.J. Daly Haploview: analysis and visualization of LD and haplotype maps Bioinformatics 21 2005 263 265 (Pubitemid 40202029)
11. D.T. Bradley, P.F. Zipfel, and A.E. Hughes Complement in age-related macular degeneration: a focus on function Eye (Lond) 25 2011 683 693 Epub 2011 Mar 11
12. B.E. Prosser, S. Johnson, and P. Roversi Structural basis for complement factor H linked age-related macular degeneration J Exp Med 204 2007 2277 2283 (Pubitemid 47529315)
13. S. Heinen, A. Hartmann, and N. Lauer Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation Blood 114 2009 2439 2447
14. M. Jozsi, S. Strobel, and H.M. Dahse Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome Blood 110 2007 1516 1518 (Pubitemid 47443967)