Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center.
Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center.
复制标题
DOI：
10.1167/iovs.03-1253
复制
发表时间：
2004-05
影响因子：
4.4
通讯作者：
S. Zareparsi;Adam C. Reddick;K. Branham;K. B. Moore;Laurie Jessup;S. Thoms;M. Smith‐Wheelock;B. Yash
中科院分区：
文献类型：
--
作者：
S. Zareparsi;Adam C. Reddick;K. Branham;K. B. Moore;Laurie Jessup;S. Thoms;M. Smith‐Wheelock;B. Yash
目的 在从单一中心招募的大型患者队列中研究载脂蛋白 E (APOE) 等位基因对年龄相关性黄斑变性 (AMD) 风险和 AMD 诊断年龄的影响。方法 对 632 名无血缘关系的 AMD 患者和 206 名无血缘对照的 APOE 等位基因频率进行了分析，这些患者均具有白人血统。所有患者和对照组是否存在疾病症状均基于临床检查和/或眼科记录。我们在 AMD 亚型、家族史状况、与吸烟的可能相互作用以及诊断 AMD 时的年龄分布等背景下探讨了与 APOE 的关联。结果 与对照组相比，患者中 epsilon4 等位基因的频率显着降低（0.10 vs. 0.14，P < 或 = 0.02）。性别和年龄调整后的比值比表明，与 epsilon3epsilon3 受试者相比，epsilon4 携带者患 AMD 的风险显着较低（OR = 0.55，95% CI：0.37-0.82，P = 0.004）。在队列中，有阳性家族史的 AMD 患者诊断时的年龄显着提前 3.5 岁 (P = 0.001)；然而，APOE 等位基因似乎不会调节 AMD 诊断时的年龄。结论 APOE-epsilon4 等位基因与 AMD 风险降低之间的关联是在一个具有足够统计能力的大型队列中建立的。不同的 APOE 等位基因如何影响 AMD 易感性值得进一步研究。
PURPOSE To examine the effect of apolipoprotein E (APOE) alleles on age-related macular degeneration (AMD) risk and on age at diagnosis of AMD in a large patient cohort recruited from a single center. METHODS The frequency of APOE alleles was analyzed in 632 unrelated AMD patients and 206 unrelated controls, all of whom were of white ancestry. The presence or absence of disease symptoms in all patients and controls was based on clinical examination and/or ophthalmic records. The association with APOE was explored in the context of AMD subtypes, family history status, possible interaction with smoking, and distribution of age at diagnosis of AMD. RESULTS The frequency of the epsilon4 allele was significantly reduced in patients compared with controls (0.10 vs. 0.14, P < or = 0.02). Gender- and age-adjusted odds ratios indicated that epsilon4-carriers have significantly lower risk of developing AMD compared to epsilon3epsilon3 subjects (OR = 0.55, 95% CI: 0.37-0.82, P = 0.004). In the cohort, AMD patients with a positive family history exhibited a significant 3.5 years earlier age at diagnosis (P = 0.001); however, APOE alleles did not appear to modulate the age at diagnosis of AMD. CONCLUSIONS The association between the APOE-epsilon4 allele and a reduced risk of AMD was established in a large cohort with sufficient statistical power. How distinct APOE alleles affect AMD susceptibility warrants further investigation.