Titre du document / Document title

The ε4 allele of the Apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

Auteur(s) / Author(s)

SOUIED E. H. ^{(1 2)} ; BENLIAN P. ⁽³⁾ ; AMOUYEL P. ⁽⁴⁾ ; FEINGOLD J. ⁽⁵⁾ ; LAGARDE J.-P. ⁽⁶⁾ ; MUNNICH A. ⁽²⁾ ; KAPLAN J. ⁽²⁾ ; COSCAS G. ⁽¹⁾ ; SOUBRANE G. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Clinique Ophthamologique Universitaire de Créteil, Créteil, FRANCE
⁽²⁾ INSERM U-393, Hôpital des Enfants-Malades, Paris, FRANCE
⁽³⁾ Laboratoire commun biologie moléculaire, Hôpital Saint-Antoine, Paris, FRANCE
⁽⁴⁾ INSERM CJF95-05, Institut Pasteur de Lille, Lille, FRANCE
⁽⁵⁾ INSERM U-155, Université Paris 7, Paris, FRANCE
⁽⁶⁾ Laboratoire de Biochimie, Faculté de Médecine Pitié-Salpétrière, Paris, FRANCE

Résumé / Abstract

. PURPOSE: Apolipoprotein E (ApoE) is a polymorphic protein that plays a central part in plasma metabolism of lipids and in central nervous system lipid homeostasis. Our purpose was to evaluate the potential role of ApoE polymorphism in the occurrence of exudative age-related macular degeneration associated with drusen, which contain lipids. . METHODS: We analyzed apolipoprotein E genotypes in 116 unrelated patients with exudative age-related macular degeneration in one eye and hard drusen (n = 39) or soft drusen (n = 77) in the other eye, and compared the results with those of age-matched and sex-matched control subjects (n = 168). Apolipoprotein E alleles were detected by a ploymerase chain reaction-based method. . RESULTS: A lower frequency of the ε4 allele carriers was observed in the exudative age-related macular degeneration group compared with control subjects (12.1% vs 28.6%, respectively; P < .0009). The ε4 allele was less frequent in the age-related macular degeneration group compared with control subjects (0.073 vs 0.149, respectively; P <.006). This decreased frequency of the ε4 allele was mainly observed in the soft drusen subgroup compared with control subjects (0.045 vs 0.149, respectively; P <.0009). . CONCLUSION: This lower relative frequency of the ε4 allele supports the hypothesis that the ApoE gene is a genetic protective factor identified in age-related macular degeneration.

Revue / Journal Title

American journal of ophthalmology   ISSN 0002-9394   CODEN AJOPAA 

Source / Source

1998, vol. 125, n^o3, pp. 353-359 (33 ref.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, New York, NY, ETATS-UNIS  (1884) (Revue)

Mots-clés anglais / English Keywords

Degeneration ; Macula ; Age ; Apolipoprotein E ; Gene ; Genotype ; Prevention ; Drusen ; Human ; Eye disease ; Retinopathy ; Maculopathy ;

Mots-clés français / French Keywords

Dégénérescence ; Macula ; Age ; Apolipoprotéine E ; Gène ; Génotype ; Prévention ; Drusen ; Homme ; Oeil pathologie ; Rétinopathie ; Maculopathie ;

Mots-clés espagnols / Spanish Keywords

Degeneración ; Mácula ; Edad ; Apolipoproteína E ; Gen ; Genotipo ; Prevención ; Drusen ; Hombre ; Ojo patología ; Retinopatía ; Maculopatía ;

Localisation / Location

INIST-CNRS, Cote INIST : 2012, 35400007920334.0100