Liutkeviciene Rasa, Lesauskaite Vaiva, Sinkunaite-Marsalkiene Giedre, Simonyte Sandrita, Zemaitiene Reda, Kriauciuniene Loresa, Zaliuniene Dalia
Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Kaunas LT-50161, Lithuania.
Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Kaunas LT-50161, Lithuania.
Int J Ophthalmol. 2017 Sep 18;10(9):1349-1353. doi: 10.18240/ijo.2017.09.03. eCollection 2017.
To examine the gene polymorphism and the phenotype characterized by soft and hard drusen of early age-related macular degeneration (AMD) and geographic atrophy of late AMD form.
The study enrolled 850 investigations (290 AMD patients with soft and hard drusen, 34 with geographic atrophy and a random sample of the population =526). Early AMD was classified according to the International Classification and Grading System. For geographic atrophy diagnosis the Age-Related Eye Disease Study classification was used. The potential association with single nucleotide polymorphisms on was evaluated for all patients, adjusted for age and sex. The genotyping test of was conducted using the real-time polymerase chain reaction method.
genotype was more frequently detected in AMD patients with hard drusen than the soft drusen or control group (66.43% 53.74%, 54.94%, =0.047). Logistic regression analysis showed that the genotype increased the likelihood to develop hard drusen in AMD patients (OR=1.7, 95% CI: 1.06-2.74; =0.028). No association between gene polymorphism in patients with atrophic AMD and control group was found (54.94%, 37.64%, 7.41% 50%, 38.24%, 11.76%; =0.6).
The polymorphism is found to be associated with the development of hard drusen in patients with AMD.
研究早发性年龄相关性黄斑变性（AMD）的软性和硬性玻璃膜疣以及晚期AMD型地理性萎缩的基因多态性和表型特征。
该研究纳入850名受试者（290例患有软性和硬性玻璃膜疣的AMD患者、34例患有地理性萎缩的患者以及随机抽取的526名人群样本）。早期AMD根据国际分类和分级系统进行分类。对于地理性萎缩的诊断，采用年龄相关性眼病研究分类法。对所有患者评估其与单核苷酸多态性的潜在关联，并根据年龄和性别进行调整。采用实时聚合酶链反应法进行基因分型检测。
在患有硬性玻璃膜疣的AMD患者中， 基因型的检出频率高于患有软性玻璃膜疣的患者或对照组（66.43%对53.74%、54.94%，P = 0.047）。逻辑回归分析表明， 基因型增加了AMD患者发生硬性玻璃膜疣的可能性（比值比=1.7，95%置信区间：1.06 - 2.74；P = 0.028）。在萎缩性AMD患者和对照组之间未发现 基因多态性的关联（54.94%、37.64%、7.41%对50%、38.24%、11.76%；P = 0.6）。
发现 多态性与AMD患者硬性玻璃膜疣的发生有关。
