Baird Paul N, Richardson Andrea J, Robman Luba D, Dimitrov Peter N, Tikellis Gabriella, McCarty Catherine A, Guymer Robyn H
Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia.
Hum Mutat. 2006 Apr;27(4):337-42. doi: 10.1002/humu.20288.
Progression of age-related macular degeneration (AMD), the leading cause of blindness in the elderly, was followed in a cohort of 238 individuals from a single center. Individuals with an epsilon (epsilon)2 genotype (c.526C>T of reference sequence NM_000041.2) of the apolipoprotein (APOE) gene were found to be strongly associated with disease with a significant 4.8-fold increased relative risk compared to individuals with an epsilon4 genotype (c.388T>C of reference sequence NM_000041.2) (odds ratio [OR], 4.8; 95% confidence interval [CI], 1.19-19.09) and a nearly significant three-fold increased relative risk compared to individuals with an epsilon3 genotype (reference sequence NM_000041.2) (OR, 2.8; 95% CI, 0.96-19.09). This finding was present only in females who progressed with AMD, which suggests that there may be a gender-specific role in progression of AMD in individuals with an epsilon2 allele. A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process.
在一个来自单一中心的238人队列中，对年龄相关性黄斑变性（AMD，老年人失明的主要原因）的病情进展进行了跟踪研究。研究发现，与载脂蛋白（APOE）基因ε4基因型（参考序列NM_000041.2的c.388T>C）个体相比，载脂蛋白（APOE）基因ε2基因型（参考序列NM_000041.2的c.526C>T）个体与疾病的关联性很强，相对风险显著增加4.8倍（比值比[OR]为4.8；95%置信区间[CI]为1.19 - 19.09），与ε3基因型（参考序列NM_000041.2）个体相比，相对风险增加近3倍（OR为2.8；95% CI为0.96 - 19.09）。这一发现仅在病情进展的AMD女性患者中存在，这表明ε2等位基因个体的AMD病情进展可能存在性别特异性作用。因此，一个与性别相关的因素直接或间接参与了AMD疾病进程。
