Gene Protecting against Age-Related Macular Degeneration

  • P. Amouyel
Conference paper


Age-related macular degeneration (ARMD) is the most common cause of blindness in the elderly in Europe and in the United States ARMD is a multifactorial disease process corresponding to a thinning or scarring of the center of the retina, the macula. Some risk factors that have been associated with ARMD include less skin pigmentation, cigarette smoking, systemic hypertension, low intake of antioxidants and family history The main clinical retinal markers of ARMD are drusen, which are composed of protein and lipid deposits within the Bruch’s membrane.


Stargardt Disease Thrifty Genotype Basal Laminar Deposit Familial Aggregation Study Multifactorial Disease Process 
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  1. Allikmets R (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 17:122PubMedGoogle Scholar
  2. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805–1807PubMedCrossRefGoogle Scholar
  3. Bird AC, Bressler NM, Bressler SB, Chisholm IH, Cos cas G, Davis MD, de Jong PT, Klaver CC, Klein BE, Klein R (1995) An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol 39:367–374PubMedCrossRefGoogle Scholar
  4. Davignon J, Gregg RE, Sing CF (1988) Apolipoprotein E polymorphism and atherosclerosis Arteriosclerosis 8: 1–21Google Scholar
  5. Hanlon CS, Rubinsztein DC (1995) Arginine residues at codons ll2 and 158 in the apolipoprotein E gene correspond to the ancestral state in humans. Atherosclerosis 112:85–90PubMedCrossRefGoogle Scholar
  6. Hyman L (1987) Epidemiology of eye disease in the elderly. Eye 1:330–341PubMedCrossRefGoogle Scholar
  7. Klaver CC, Kliffen M, van Duijn CM, Hofman A, Cruts M, Grobbee DE, Van Broeckhoven C, de Jong PT (1998a) Genetic association of apolipoprotein E with age-related macular degeneration. Am J Human Genet 63:200–206CrossRefGoogle Scholar
  8. Klaver CC, Wolfs RC, Assink JJ, van Duijn CM, Hofman A, de Jong PT (l998b) Genetic risk of agerelated maculopathy. Population-based familial aggregation study. Arch Ophthalmol 116:1646–1651Google Scholar
  9. Lambert JC, Perez-Tur J, Dupire MJ, Galasko D, Mann D, Amouyel P, Hardy J, Delacourte A, ChartierHarlin MC (1997) Distortion of allelic expression of apolipoprotein E in Alzheimer’s disease. Human Mol Genet 6:2151–2154CrossRefGoogle Scholar
  10. Lambert JC, Berr C, Pasquier F, Delacourte A, Frigard B, Cottel D, Perez-Tur J, Mouroux V, Mohr M, Cecyre D, Galasko D, Lendon C, Poirier J, Hardy J, Mann D, Amouyel P, Chartier-Harlin MC (1998a) Pronounced impact of Thl/E47cs mutation compared with-491 AT mutation on neural APOE gene expression and risk of developing Alzheimer’s disease. Human Mol Genet 7:1511–1516CrossRefGoogle Scholar
  11. Lambert JC, Pasquier F, Cottel D, Frigard B, Amouyel P, Chartier-Harlin MC (1998b) A new polymorphism in the APOE promoter associated with risk of developing Alzheimer’s disease. Human Mol Genet 7:533–540CrossRefGoogle Scholar
  12. Luc G, Bard JM, Arveiler D, Evans A, Cambou JP, Bingham A, Amouyel P, Schaffer P, Ruidavets JB, Cambien F (1994) Impact of apolipoprotein E polymorphism on lipoproteins and risk of myocardial infarction. The ECTIM Study. Arterioscler Thromb 14: 1412–1419PubMedCrossRefGoogle Scholar
  13. Moore DJ, Hussain AA, Marshall J (1995) Age-related variation in the hydraulic conductivity of Bruch’s membrane. Invest Ophthalmol Vis Sci 36:1290–1297PubMedGoogle Scholar
  14. Neel JV (l962) Diabetes mellitus: a thrifty genotype rendered detrimental by progress. Am J Hum Genet 14:353–362Google Scholar
  15. Pauleikhoff D, Barondes MJ, Minassian D, Chisholm IH, Bird AC (1990) Drusen as risk factors in agerelated macular disease. Am J Ophthalmol 109:38–43PubMedGoogle Scholar
  16. Richard F, Amouyel P (1998) Genetical links between stroke and Alzheimer’s disease. In: Leys D, Pasquier F, Scheltens P (eds) Current issues in neurodegenerative diseases, Vol 9, Stroke and Alzheimer’s disease, ICG The Hague, pp 112–123Google Scholar
  17. Seddon JM, Ajani UA, Mitchell BD (1997) Familial aggregation of age-related maculopathyFamilial aggregation of age-related maculopathy. Am J Ophthalmol 123:199–206PubMedGoogle Scholar
  18. Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde JP, Munnich A, Kaplan J, Cos cas G, Soubrane G (1998) The e&x025B;4 allele of the apolipoprotein E gene as a potential protective factor for exudative agerelated macular degeneration. Am J Ophthalmol 125:353–359PubMedCrossRefGoogle Scholar
  19. Weisgraber KH, Mahley RW (1996) Human apolipoprotein E: the Alzheimer’s disease connection.FASEB J 10:1485–1494PubMedGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 2000

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  • P. Amouyel

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