Schmidt S, Saunders A M, Postel E A, Heinis R M, Agarwal A, Scott W K, Gilbert J R, McDowell J G, Bazyk A, Gass J D, Haines J L, Pericak-Vance M A
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
Mol Vis. 2000 Dec 31;6:287-93.
Age-related macular degeneration (AMD) is a complex disorder affecting older adults in which genetic factors are likely to play a role. It has been previously suggested that the e4 allele of the apolipoprotein E (APOE) gene may have a protective effect on AMD risk and that the e2 allele may increase disease risk. The purpose of our study was to examine whether an independent data set would support the proposed role of APOE in AMD etiology.
We compared AMD cases (n=230) to controls (n=372) with respect to APOE genotypes using c2 tests and logistic regression analysis. We also conducted separate analyses for familial (n=129) and sporadic (n=101) AMD cases since these groups may have a different disease etiology.
We did not find evidence for the risk-increasing effect attributed to the e2 allele in either familial or sporadic AMD. No evidence for a protective effect of the e4 allele was obtained for sporadic AMD. The age- and sex-adjusted odds ratio (OR) for e4 carriers among familial AMD cases compared to controls was 0.66 (95% confidence interval: 0.38-1.12, p=0.13). In the subgroup of individuals younger than 70 years of age, an OR of 0.24 (95% confidence interval: 0.08-0.72, p=0.004) was obtained.
Our data modestly support a protective effect of the APOE-e4 allele on AMD risk, but emphasize the need to investigate more thoroughly whether the effect could be restricted to cases with a family history of AMD and whether it varies across age and sex groups.
年龄相关性黄斑变性（AMD）是一种影响老年人的复杂疾病，其中遗传因素可能起作用。此前有人提出，载脂蛋白E（APOE）基因的e4等位基因可能对AMD风险具有保护作用，而e2等位基因可能增加疾病风险。我们研究的目的是检验一个独立数据集是否支持APOE在AMD病因学中所提出的作用。
我们使用卡方检验和逻辑回归分析，比较了AMD病例（n = 230）和对照（n = 372）的APOE基因型。我们还对家族性（n = 129）和散发性（n = 101）AMD病例进行了单独分析，因为这些组可能具有不同的疾病病因。
我们在家族性或散发性AMD中均未发现e2等位基因具有增加风险作用的证据。对于散发性AMD，未获得e4等位基因具有保护作用的证据。与对照相比，家族性AMD病例中e4携带者的年龄和性别调整后的优势比（OR）为0.66（95%置信区间：0.38 - 1.12，p = 0.13）。在年龄小于70岁的个体亚组中，OR为0.24（95%置信区间：0.08 - 0.72，p = 0.004）。
我们的数据适度支持APOE - e4等位基因对AMD风险具有保护作用，但强调需要更彻底地研究这种作用是否仅限于有AMD家族史的病例，以及它是否因年龄和性别组而异。
