爱沙尼亚年龄相关性白内障患者的EPHA2基因多态性

EPHA2 Polymorphisms in Estonian Patients with Age-Related Cataract.

作者信息

Celojevic Dragana, Abramsson Alexandra, Seibt Palmér Mona, Tasa Gunnar, Juronen Erkki, Zetterberg Henrik, Zetterberg Madeleine

机构信息

a Department of Clinical Neuroscience and Rehabilitation/Ophthalmology , Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Gothenburg , Sweden .

b Department of Psychiatry and Neurochemistry , Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Mölndal , Sweden .

出版信息

Ophthalmic Genet. 2016;37(1):14-8. doi: 10.3109/13816810.2014.902080. Epub 2014 Mar 27.

DOI:10.3109/13816810.2014.902080

PMID:24673449

Abstract

BACKGROUND

Ephrin receptors (Ephs) are tyrosine kinases that together with their ligands, ephrins, are considered important in cell-cell communication, especially during embryogenesis but also for epithelium homeostasis. Studies have demonstrated the involvement of mutations or common variants of the gene encoding Eph receptor A2 (EPHA2), in congenital cataract and in age-related cataract. This study investigated a number of disease-associated single nucleotide polymorphisms (SNPs) in EPHA2 in patients with age-related cataract.

MATERIALS AND METHODS

The study included 491 Estonian patients who had surgery for age-related cataract, classified as nuclear, cortical, posterior subcapsular and mixed lens opacities, and 185 controls of the same ethnical origin. Seven SNPs in EPHA2 (rs7543472, rs11260867, rs7548209, rs3768293, rs6603867, rs6678616, rs477558) were genotyped using TaqMan Allelic Discrimination. Statistical analyses for single factor associations used χ(2)-test and logistic regression was performed including relevant covariates (age, sex and smoking).

RESULTS

In single-SNP allele analysis, only the rs7543472 showed a borderline significant association with risk of cataract (p = 0.048). Regression analysis with known risk factors for cataract showed no significant associations of the studied SNPs with cataract. Stratification by cataract subtype did not alter the results. Adjusted odds ratios were between 0.82 and 1.16 (95% confidence interval 0.61-1.60).

CONCLUSIONS

The present study does not support a major role of EphA2 in cataractogenesis in an Estonian population.

摘要

背景

Ephrin受体（Ephs）是酪氨酸激酶，其与配体ephrins一起被认为在细胞间通讯中很重要，特别是在胚胎发育过程中，对上皮细胞稳态也很重要。研究表明，编码Eph受体A2（EPHA2）的基因突变或常见变异与先天性白内障和年龄相关性白内障有关。本研究调查了年龄相关性白内障患者中EPHA2基因的一些疾病相关单核苷酸多态性（SNP）。

材料与方法

该研究纳入了491例因年龄相关性白内障接受手术的爱沙尼亚患者，这些患者的白内障分为核性、皮质性、后囊下和混合性晶状体混浊，以及185例同种族来源的对照。使用TaqMan等位基因鉴别法对EPHA2基因中的7个SNP（rs7543472、rs11260867、rs7548209、rs3768293、rs6603867、rs6678616、rs477558）进行基因分型。单因素关联的统计分析采用χ²检验，并进行逻辑回归分析，纳入相关协变量（年龄、性别和吸烟）。