Zanon-Moreno Vicente, Zanon-Moreno Laura, Ortega-Azorin Carolina, Asensio-Marquez Eva M, Garcia-Medina Jose Javier, Sanz Pedro, Pinazo-Duran Maria D, Ordovás Jose M, Corella Dolores
Department of Preventive Medicine and Public Health, School of Medicine, University of Valencia, Valencia, Spain; Ophthalmology Research Unit 'Santiago Grisolia', Valencia, Spain; Centro de Investigación Biomédica en Red Fisiopatología de la Obesidad y Nutrición (CIBERobn), Madrid, Spain.
Clin Exp Ophthalmol. 2015 Jan-Feb;43(1):26-30. doi: 10.1111/ceo.12367. Epub 2014 Aug 7.
To investigate the possible association of the rs2165241 polymorphism (C > T) in LOXL1 gene with the risk of primary open-angle glaucoma in a Mediterranean population.
The analysis of genetic polymorphisms was performed by standard TaqMan allelic discrimination technique, using a 7900HT Sequence Detection System (Applied Biosystems).
In a recessive genetic model, the T allele of the rs2165241 polymorphism was significantly associated with the risk of primary open-angle glaucoma (TT vs. CC: odds ratios = 2.19, 95% confidence interval = [1.33-3.62]). After multivariate logistic regression model adjusted by age and weight, the magnitude of the association decreased but remained statistically significant (TT vs. CC: odds ratios = 2.07, 95% confidence interval = [1.20-3.57]).
This polymorphism seems to be associated with high risk for primary open-angle glaucoma in a Mediterranean population.
研究地中海人群中赖氨酰氧化酶1（LOXL1）基因rs2165241多态性（C>T）与原发性开角型青光眼风险之间的可能关联。
采用标准TaqMan等位基因鉴别技术，使用7900HT序列检测系统（应用生物系统公司）进行基因多态性分析。
在隐性遗传模型中，rs2165241多态性的T等位基因与原发性开角型青光眼风险显著相关（TT与CC相比：比值比=2.19，95%置信区间=[1.33 - 3.62]）。在经年龄和体重调整的多因素逻辑回归模型中，关联强度降低但仍具有统计学意义（TT与CC相比：比值比=2.07，95%置信区间=[1.20 - 3.57]）。
这种多态性似乎与地中海人群原发性开角型青光眼的高风险相关。
