A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 4, 2012, Pages 2112-2118

  Fritsche, Lars G ^a   Fleckenstein, Monika ^b   Fiebig, Britta S ^a   Schmitz Valckenberg, Steffen ^b   Bindewald Wittich, Almut ^b   Keilhauer, Claudia N ^c   Renner, Agnes B ^a   Mackensen, Friederike ^d   Mößner, Andreas ^e   Pauleikhoff, Daniel ^f   Adrion, Christine ^g   Mansmann, Ulrich ^g   Scholl, Hendrik P N ^c,h   Holz, Frank G ^c   Weber, Bernhard H F ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF LEIPZIG   (Germany)

^f ST FRANZISKUS HOSPITAL   (Germany)

^g UNIVERSITY OF MUNICH   (Germany)

^h JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGE RELATED MACULOPATHY SUSCEPTIBILITY 2 PROTEIN; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; EYE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; ATP BINDING CASSETTE TRANSPORTER 4 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; EYE EXAMINATION; EYE FUNDUS; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RISK FACTOR;

EID: 84861130906     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8785     Document Type: Article

References (45)

1. Cideciyan AV, Swider M, Aleman TS, et al. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009;18:931-941.
2. Sparrow JR, Boulton M. RPE lipofuscin and its role in retinal pathobiology. Exp Eye Res. 2005;80:595-606.
3. Bergmann M, Schütt F, Holz FG, Kopitz J. Inhibition of the ATPdriven proton pump in RPE lysosomes by the major lipofuscin fluorophore A2-E may contribute to the pathogenesis of agerelated macular degeneration. FASEB J. 2004;18:562-564.
4. Allikmets R, Singh N, Sun H, et al. A photoreceptor cellspecific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15: 236-246.
5. Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-362.
6. Martínez-Mir A, Paloma E, Allikmets R, et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet. 1998;15:236-246.
7. Maugeri A, van Driel MA, van de Pol DJ, et al. The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet. 1999;64:1024-1035.
8. Allikmets R. Shroyer NF, Singh N, Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805-1807.
9. Stone EM, Webster AR, Vandenburgh K, et al. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet. 1998;20:328-329.
10. Rivera A, White K, Stöhr H, et al. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet. 2000;67:800-813.
11. Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet. 2000; 67:487-491.
12. Souied EH, Ducroq D, Gerber S, et al. Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. Am J Ophthalmol. 1999;128:173-178.
13. Shroyer NF, Lewis RA, Allikmets R, et al. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res. 1999; 39:2537-2544.
14. Bernstein PS, Leppert M, Singh N, et al. Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci. 2002;43:466-473.
15. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science.2005;308:385-389.
16. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
17. 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. 2005;102:7227-7232.
18. Edwards AO, Ritter R, III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science. 2005;308:421-424.
19. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with agerelated macular degeneration. Nat Genet. 2006;38:458-462.
20. 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;39:1200-1201.
21. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. European Eur J Hum Genet.2009;17:100-104.
22. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 10q26. Amer J Hum Genet. 2005;77:389-407.
23. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for agerelated macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005; 14:3227-3236.
24. Delori FC, Staurenghi G, Arend O, Dorey CK, Goger DG, Weiter JJ. In vivo measurement of lipofuscin in Stargardt's disease-Fundus flavimaculatus. Invest Ophthalmol Vis Sci.1995;36:2327-2331.
25. Holz FG, Bindewald-Wittich A, Fleckenstein M, et al. Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration. Am J Ophthalmol. 2007;143:463-472.
26. Bindewald A, Schmitz-Valckenberg S, Jorzik JJ, et al. Classification of abnormal fundus autofluorescence patterns in the junctional zone of geographic atrophy in patients with age related macular degeneration. Brit J Ophthalmol. 2005;89: 874-878.
27. Schmitz-Valckenberg S, Fleckenstein M, Scholl HP, Holz FG. Fundus autofluorescence and progression of age-related macular degeneration. Surv Ophthalmol. 2009;54:96-117.
28. Lois N, Holder GE, Fitzke FW, Plant C, Bird AC. Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus. Invest Ophthalmol Vis Sci. 1999;40:2668-2675.
29. Holz FG, Bellmann C, Rohrschneider K, Burk RO, Völcker HE. Simultaneous confocal scanning laser fluorescein and indocyanine green angiography. Amer J Ophthalmol. 1998;125: 227-236.
30. Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol. 1975;94:441-448.
31. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576.
32. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods.2010;7:248-249.
33. Li B, Krishnan VG, Mort ME, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics. 2009;25:2744-2750.
34. The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-1073.
35. R Development Core Team. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing. 2011.
36. Zernant J, Schubert C, Im KM, et al. Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci. 2011;52:8479-8487.
37. Aguirre-Lamban J, González-Aguilera JJ, Riveiro-Alvarez R, et al. Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. Invest Ophthalmol Vis Sci.2011;52:6206-6212.
38. Bergeron-Sawitzke J, Gold B, Olsh A, et al. Multilocus analysis of age-related macular degeneration. Eur J Hum Genet. 2009; 17:1190-1199.
39. Despriet DD, van Duijn CM, Oostra BA, et al. Complement component C3 and risk of age-related macular degeneration. Ophthalmology. 2009;116:474-480.
40. De La Paz MA, Guy VK, Abou-Donia S, et al. Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. Ophthalmology. 1999;106:1531-1536.
41. Webster AR, Héon E, Lotery AJ, et al. An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2001; 42:1179-1189.
42. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet. 2001;108:346-355.
43. Jaakson K, Zernant J, Külm M, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003; 22:395-403.
44. Hwang JC, Zernant J, Allikmets R, Barile GR, Chang S, Smith RT. Peripapillary atrophy in Stargardt disease. Retina. 2009;29: 181-186.
45. Cideciyan AV, Swider M, Aleman TS, et al. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Vis Sci. 2005; 46:4739-4746.