Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Am J Ophthalmol. 2013 Nov;156(5):1010-1020.e1. doi: 10.1016/j.ajo.2013.06.004. Epub 2013 Aug 12.
To describe the relationships of selected candidate genes to the prevalence of early age-related macular degeneration (AMD) in a cohort of whites, blacks, Hispanics, and Chinese Americans.
Cross-sectional study.
setting: Multicenter study. study population: A total of 2456 persons aged 45-84 years with genotype information and fundus photographs. procedures: Twelve of 2862 single nucleotide polymorphisms (SNPs) from 11 of 233 candidate genes for cardiovascular disease were selected for analysis based on screening with marginal unadjusted P value <.001 within 1 or more racial/ethnic groups. Logistic regression models tested for association in case-control samples. main outcome measure: Prevalence of early AMD.
Early AMD was present in 4.0% of the cohort and varied from 2.4% in blacks to 6.0% in whites. The odds ratio increased from 2.3 for 1 to 10.0 for 4 risk alleles in a joint effect analysis of Age-Related Maculopathy Susceptibility 2 rs10490924 and Complement Factor H Y402H (P for trend = 4.2×10(-7)). Frequencies of each SNP varied among the racial/ethnic groups. Adjusting for age and other factors, few statistically significant associations of the 12 SNPs with AMD were consistent across all groups. In a multivariate model, most candidate genes did not attenuate the comparatively higher odds of AMD in whites. The higher frequency of risk alleles for several SNPs in Chinese Americans may partially explain their AMD frequency's approaching that of whites.
The relationships of 11 candidate genes to early AMD varied among 4 racial/ethnic groups, and partially explained the observed variations in early AMD prevalence among them.
描述在白种人、黑种人、西班牙裔和华裔美国人队列中，一些候选基因与早发性年龄相关性黄斑变性（AMD）的相关性。
横断面研究。
地点：多中心研究。研究人群：共有 2456 名年龄在 45-84 岁之间的个体，具有基因型信息和眼底照片。过程：从 233 个候选心血管疾病基因中的 2862 个单核苷酸多态性（SNP）中选择了 11 个基因中的 12 个 SNP，基于在 1 个或多个种族/族裔群体中边缘未调整 P 值<0.001 的筛选进行分析。逻辑回归模型用于在病例对照样本中测试关联。主要观察指标：早发性 AMD 的患病率。
队列中有 4.0%的人患有早发性 AMD，其患病率从黑种人组的 2.4%到白种人组的 6.0%不等。在 Age-Related Maculopathy Susceptibility 2 rs10490924 和 Complement Factor H Y402H 的联合效应分析中，风险等位基因从 1 个增加到 10.0 个的比值比从 2.3 增加到 2.3（趋势检验 P 值为 4.2×10(-7))。每个 SNP 的频率在不同种族/族裔群体中存在差异。调整年龄和其他因素后，12 个 SNP 与 AMD 的关联在所有组中很少有统计学意义。在多变量模型中，大多数候选基因并不能减弱白种人 AMD 较高的比值比。华裔美国人中几个 SNP 的风险等位基因频率较高，可能部分解释了他们 AMD 频率接近白人的原因。
11 个候选基因与早发性 AMD 的关系在 4 个种族/族裔群体中存在差异，并部分解释了它们之间早发性 AMD 患病率的差异。
