Souied E H, Benlian P, Amouyel P, Feingold J, Lagarde J P, Munnich A, Kaplan J, Coscas G, Soubrane G
Clinique Ophthamologique Universitaire de Créteil, France.
Am J Ophthalmol. 1998 Mar;125(3):353-9. doi: 10.1016/s0002-9394(99)80146-9.
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.
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.
A lower frequency of the epsilon4 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 epsilon4 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 epsilon4 allele was mainly observed in the soft drusen subgroup compared with control subjects (0.045 vs 0.149, respectively; P < .0009).
This lower relative frequency of the epsilon4 allele supports the hypothesis that the ApoE gene is a genetic protective factor identified in age-related macular degeneration.
载脂蛋白E（ApoE）是一种多态性蛋白质，在血浆脂质代谢和中枢神经系统脂质稳态中起核心作用。我们的目的是评估ApoE基因多态性在与含有脂质的玻璃膜疣相关的渗出性年龄相关性黄斑变性发生中的潜在作用。
我们分析了116例单眼患有渗出性年龄相关性黄斑变性且另一只眼有硬性玻璃膜疣（n = 39）或软性玻璃膜疣（n = 77）的无亲缘关系患者的载脂蛋白E基因型，并将结果与年龄和性别匹配的对照受试者（n = 168）的结果进行比较。通过基于聚合酶链反应的方法检测载脂蛋白E等位基因。
与对照受试者相比，渗出性年龄相关性黄斑变性组中ε4等位基因携带者的频率较低（分别为12.1%对28.6%；P <.0009）。与对照受试者相比，年龄相关性黄斑变性组中ε4等位基因的频率较低（分别为0.073对0.149；P <.006）。与对照受试者相比，ε4等位基因频率的降低主要见于软性玻璃膜疣亚组（分别为0.045对0.149；P <.0009）。
ε4等位基因相对频率较低支持了ApoE基因是在年龄相关性黄斑变性中鉴定出的遗传保护因子这一假说。
