评价巴西东南部人群中与年龄相关性黄斑变性相关的多态性与风险。
Evaluation of polymorphisms and the risk for age-related macular degeneration in a Southeastern Brazilian population.
机构信息
Department of Ophthalmology, Faculty of Medical Sciences, University of Campinas, Campinas, SP 13083-887, Brazil.
Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas, Campinas, SP 13083-875, Brazil.
出版信息
Exp Biol Med (Maywood). 2021 May;246(10):1148-1155. doi: 10.1177/1535370220985466. Epub 2021 Jan 19.
This study aimed to evaluate the role of polymorphisms (rs429358 and rs7412) in the risk of age-related macular degeneration in a sample of the Southeastern Brazilian population. Seven hundred and five unrelated individuals were analyzed, 334 with age-related macular degeneration (case group), and 371 without the disease (control group). In the case group, patients were further stratified according to disease phenotypes, divided into dry and wet age-related macular degeneration, and non-advanced and advanced age-related macular degeneration. polymorphisms (rs429358 and rs7412) were evaluated through polymerase chain reaction and direct sequencing. In the comparison of cases vs. controls, none of the associations reached statistical significance, considering the Bonferroni-adjusted -value, although there was a suggestive protection for the E3/E4 genotype (OR = 0.626; -value = 0.037) and E4 carriers (OR = 0.6515; -value = 0.047). Statistically significant protection for both the E3/E4 genotype and E4 carriers was observed in the comparisons: advanced age-related macular degeneration vs. controls (OR = 0.3665, -value = 0.491 × 10 and OR = 0.4031, -value = 0.814 × 10, respectively), advanced age-related macular degeneration vs. non-advanced age-related macular degeneration (OR = 0.2529, -value = 0.659 × 10 and OR = 0.2692, -value = 0.631 × 10, respectively). In the comparison of wet age-related macular degeneration vs. control, protection was statistically significant only for E3/E4 (OR = 0.4052, -value = 0.001). None of the comparisons demonstrated any significant association for E2 genotypes or E2 carriers in age-related macular degeneration risk in this study. Findings suggest a protective role of the E4 haplotype in the gene in the risk for advanced and wet forms of age-related macular degeneration, in a sample of the Brazilian population. To our knowledge, this is the first Brazilian study to show the association between polymorphisms and age-related macular degeneration.
本研究旨在评估多态性（rs429358 和 rs7412）在东南巴西人群中年龄相关性黄斑变性风险中的作用。分析了 705 名无关个体，其中 334 名患有年龄相关性黄斑变性（病例组），371 名无该疾病（对照组）。在病例组中，根据疾病表型进一步将患者分为干性和湿性年龄相关性黄斑变性以及非晚期和晚期年龄相关性黄斑变性。通过聚合酶链反应和直接测序评估多态性（rs429358 和 rs7412）。在病例与对照组的比较中，尽管存在对 E3/E4 基因型（OR=0.626；-值=0.037）和 E4 携带者（OR=0.6515；-值=0.047）的提示保护作用，但没有一个关联达到统计学意义，考虑到 Bonferroni 调整后的 -值。在以下比较中，E3/E4 基因型和 E4 携带者均显示出统计学显著的保护作用：晚期年龄相关性黄斑变性与对照组（OR=0.3665，-值=0.491×10 和 OR=0.4031，-值=0.814×10），晚期年龄相关性黄斑变性与非晚期年龄相关性黄斑变性（OR=0.2529，-值=0.659×10 和 OR=0.2692，-值=0.631×10）。在湿性年龄相关性黄斑变性与对照组的比较中，仅 E3/E4 具有统计学显著的保护作用（OR=0.4052，-值=0.001）。在这项研究中，E2 基因型或 E2 携带者与年龄相关性黄斑变性风险之间的任何比较均未显示出任何显著关联。研究结果表明，E4 单倍型在巴西人群中，在晚期和湿性年龄相关性黄斑变性的风险中，基因具有保护作用。据我们所知，这是第一项表明 多态性与年龄相关性黄斑变性之间存在关联的巴西研究。
Zotero 插件