血管紧张素转换酶基因多态性与老年性白内障的关联

Association of angiotensin-converting enzyme, genes polymorphism with senile cataract.

作者信息

Raza Syed Tasleem, Abbas Shania, Chandra Anu, Singh Luxmi, Rizvi Saliha, Mahdi Farzana

机构信息

Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.

Department of Opthalmology, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India.

出版信息

Oman J Ophthalmol. 2017 Jan-Apr;10(1):21-25. doi: 10.4103/ojo.OJO_40_2015.

DOI:10.4103/ojo.OJO_40_2015

PMID:28298860

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5338047/

Abstract

BACKGROUND

Senile cataract is the most common type of cataract characterized by gradual progressive thickening of the lens of the eye. Previously, many studies investigated the association between genetic polymorphism and senile cataract. Angiotensin-converting enzyme () I/D polymorphism is the potential risk factor for many eye-related diseases such as retinopathy and glaucoma. enzyme converts cholesterol to 24S-hydroxycholesterol; human lens' membranes contain the highest cholesterol content. Defects in enzymes of cholesterol metabolism can be associated with cataracts. Hence, the present study was carried out to investigate the association of and genes polymorphism with senile cataract cases and controls.

MATERIALS AND METHODS

(rs 4646994) and (rs 754203) genes polymorphism in cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism.

RESULTS

This study included 103 senile cataract cases (55 were males and 48 were females) and 102 controls (53 were males and 49 were females). Mean age of cases in this study was 52.02 ± 12.11 years while in control group 53.74 ± 11.87 years. Frequencies of ID, DD, and II genotypes in senile cataract cases were 64.07%, 4.85%, and 31.06% and controls were 61.76%, 26.47%, and 11.76%, respectively. The gene CT, CC, and TT genotype frequencies were 48.54%, 8.73%, and 42.71% in senile cataract cases and 28.43%, 3.92%, and 67.64% in healthy controls, respectively. DD and II genotypes ( < 0.001,P = 0.0008) and CT and TT genotypes ( = 0.003,P = 0.0003) were significantly associated with senile cataract cases compared to the controls.

CONCLUSION

Findings of this study suggest that and genes polymorphism may be a predictive marker for early identification of population at risk of senile cataract. This potential role of and genes polymorphism as a marker of susceptibility to senile cataract needs further validation in studies involving larger number of patients from different regions.

摘要

背景

老年性白内障是最常见的白内障类型，其特征是眼球晶状体逐渐进行性增厚。此前，许多研究调查了基因多态性与老年性白内障之间的关联。血管紧张素转换酶（）I/D多态性是许多眼部相关疾病如视网膜病变和青光眼的潜在危险因素。酶将胆固醇转化为24S-羟基胆固醇；人晶状体膜含有最高的胆固醇含量。胆固醇代谢酶的缺陷可能与白内障有关。因此，本研究旨在调查和基因多态性与老年性白内障病例及对照之间的关联。

材料与方法

通过聚合酶链反应和限制性片段长度多态性评估病例和对照中（rs 4646994）和（rs 754203）基因的多态性。

结果

本研究纳入103例老年性白内障病例（男性55例，女性48例）和102例对照（男性53例，女性49例）。本研究中病例的平均年龄为52.02±12.11岁，而对照组为53.74±11.87岁。老年性白内障病例中 ID、DD和II基因型的频率分别为64.07%、4.85%和31.06%，对照组分别为61.76%、26.47%和11.76%。老年性白内障病例中基因CT、CC和TT基因型频率分别为48.54%、8.73%和42.71%，健康对照组分别为28.43%、3.92%和67.64%。与对照组相比， DD和II基因型（<0.001，P = 0.0008）以及 CT和TT基因型（=0.003，P = 0.0003）与老年性白内障病例显著相关。