Sun Erdan, Lim Apiradee, Liu Xipu, Snellingen Torkel, Wang Ningli, Liu Ningpu
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
Mol Vis. 2011 Apr 20;17:997-1002.
To examine the association between apolipoprotein E (APOE) polymorphisms and age-related macular degeneration (AMD) in a Chinese population.
The study consisted of 712 subjects, including 201 controls, 363 cases with early AMD, and 148 cases with exudative AMD. Genomic DNA was extracted from venous blood leukocytes. Common allelic variants of APOE (ε2, ε3, and ε4) were analyzed by PCR and direct sequencing.
APOE ε3ε3 was the most frequent genotype, with a frequency of 72.6% in controls, 72.5% in early AMD, and 70.3% in exudative AMD. Frequency of the ε2 allele was 6.7% in controls, 7.4% in early AMD, and 8.8% in exudative AMD. Frequency of the ε4 allele was 8.7% in controls, 7.7% in early AMD, and 7.8% in exudative AMD. No statistically significant difference in APOE genotype and allele frequency distribution was observed among controls, cases with early AMD, and cases with exudative AMD. For ε2 allele carriers, the odds ratio was 1.12 (95% confidence interval [CI], 0.65-1.93) for early AMD and 1.06 (95% CI, 0.53-2.10) for exudative AMD. For ε4 allele carriers, the odds ratio was 1.04 (95% CI, 0.61-1.75) for early AMD and 0.83 (95% CI, 0.42-1.62) for exudative AMD.
Our data provide no evidence to support an association of APOE polymorphisms with early or exudative AMD, suggesting that APOE is less likely to be a major AMD susceptibility gene in the Chinese population.
研究中国人群中载脂蛋白E（APOE）基因多态性与年龄相关性黄斑变性（AMD）之间的关联。
该研究纳入712名受试者，包括201名对照、363例早期AMD患者和148例渗出性AMD患者。从静脉血白细胞中提取基因组DNA。通过聚合酶链反应（PCR）和直接测序分析APOE的常见等位基因变体（ε2、ε3和ε4）。
APOE ε3ε3是最常见的基因型，在对照组中的频率为72.6%，在早期AMD患者中为72.5%，在渗出性AMD患者中为70.3%。ε2等位基因在对照组中的频率为6.7%，在早期AMD患者中为7.4%，在渗出性AMD患者中为8.8%。ε4等位基因在对照组中的频率为8.7%，在早期AMD患者中为7.7%，在渗出性AMD患者中为7.8%。在对照组、早期AMD患者和渗出性AMD患者之间，未观察到APOE基因型和等位基因频率分布的统计学显著差异。对于ε2等位基因携带者，早期AMD的优势比为1.12（95%置信区间[CI]，0.65 - 1.93），渗出性AMD的优势比为1.06（95%CI，0.53 - 2.10）。对于ε4等位基因携带者，早期AMD的优势比为1.04（95%CI，0.61 - 1.75），渗出性AMD的优势比为0.83（95%CI，0.42 - 1.62）。
我们的数据没有证据支持APOE基因多态性与早期或渗出性AMD相关，这表明APOE在中国人群中不太可能是主要的AMD易感基因。
