Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender.
Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender.
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发表时间：
2000-12
期刊：
影响因子：
2.2
通讯作者：
S. Schmidt;Ann M. Saunders;La Paz Ma De La Paz Ma-La-Paz-Ma-De-La-Paz-Ma-2254384969;E. Postel;R. Heinis;A. Agarwal;William K. Scott;Jill Gilbert;J. Mcdowell;A. Bazyk;J. Gass;J. Haines;M. Pericak-Vance
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作者：
S. Schmidt;Ann M. Saunders;La Paz Ma De La Paz Ma-La-Paz-Ma-De-La-Paz-Ma-2254384969;E. Postel;R. Heinis;A. Agarwal;William K. Scott;Jill Gilbert;J. Mcdowell;A. Bazyk;J. Gass;J. Haines;M. Pericak-Vance
目的：年龄相关性黄斑变性（AMD）是一种影响老年人的复杂疾病，遗传因素可能在其中发挥作用。先前有研究表明载脂蛋白E （APOE）基因的e4等位基因可能对AMD风险具有保护作用，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的数据集是否支持APOE在AMD病因学中的作用。方法采用c2检验和logistic回归分析，比较AMD病例（n=230）和对照组（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。结果：我们没有发现家族性或散发性AMD中e2等位基因增加风险的证据。没有证据表明e4等位基因对散发性AMD有保护作用。与对照组相比，家族性AMD病例中e4携带者经年龄和性别调整的优势比（OR）为0.66（95%可信区间：0.38-1.12,p=0.13）。在年龄小于70岁的亚组中，OR为0.24（95%可信区间：0.08-0.72,p=0.004）。结论：我们的数据适度支持APOE-e4等位基因对AMD风险的保护作用，但强调需要更彻底地调查这种作用是否仅限于有AMD家族史的病例，以及它是否在年龄和性别群体中存在差异。
PURPOSE 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. METHODS 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. RESULTS 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. CONCLUSIONS 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.