Çelįk Sevim K, Aras Nurcan, Yildirim Özlem, Turan Fahri, Görür Ayşegül, Yildirim Hatice, Tamer Lülüfer
Department of Medical Genetics, Faculty of Medicine, Bulent Ecevit University, Zonguldak, Turkey.
Department of Medical Biology, Faculty of Medicine, Mersin University, Mersin, Turkey.
Adv Clin Exp Med. 2015 Jan-Feb;24(1):113-9. doi: 10.17219/acem/38143.
Age-related cataract (ARC) is the leading cause of visual disability and reversible blindness all over the world. The different expressions of GST isozymes among animals may explain the variations in the cataract formation caused by oxidative stress.
In this study, we evaluated the distribution of GST gene polymorphisms in ARC patients and the possible associations between the presence of ARC and GST gene polymorphisms.
The epidemiological data was collected by a standard questionnaire and blood samples were obtained from 130 ARC patients and 159 healthy controls. Data about smoking habits of the groups was recorded. Real-time polymerase chain reaction-based methods were used to detect genetic polymorphisms.
The GSTM 1 null genotype was found to carry an increased risk for developing ARC (OR: 1.84, 95% CI: 1.13-2.99). The frequency of the GSTT 1 null genotype was not significantly different among the ARC patients and the controls (OR: 1.0, 95% CI: 0.64-1.6). The GSTP 1 Val/Val genotype was also not significantly different among the ARC patients and control groups (OR: 1.06, 95% CI: 0.50-2.23). GSTM 1 null genotype was highly frequent in non-smokers (OR: 3.25, 95% CI: 1.66-6.35) and moderately frequent in smokers (OR: 2.50, 95% CI: 1.28-4.86). Also, carrying the combined genotypes of GSTM 1 null, GSTT 1 and GSTP 1 105-Val allele was seen to have an increased risk of developing ARC (OR: 2.91, 95% CI: 1.31-6.44).
This data may provide evidence that GSTM 1 gene polymorphisms may be associated with genetic susceptibility to develop ARC. Larger studies are warranted to verify these findings.
年龄相关性白内障(ARC)是全球视力残疾和可治愈性失明的主要原因。动物中谷胱甘肽S-转移酶(GST)同工酶的不同表达可能解释氧化应激导致的白内障形成差异。
在本研究中,我们评估了ARC患者中GST基因多态性的分布以及ARC的存在与GST基因多态性之间的可能关联。
通过标准问卷收集流行病学数据,并从130例ARC患者和159例健康对照中采集血样。记录两组的吸烟习惯数据。采用基于实时聚合酶链反应的方法检测基因多态性.
发现GSTM1无效基因型患ARC的风险增加(比值比:1.84,95%可信区间:1.13 - 2.99)。ARC患者和对照组中GSTT1无效基因型频率无显著差异(比值比:1.09,95%可信区间:0.64 - 1.6).ARC患者和对照组中GSTP1 Val/Val基因型也无显著差异(比值比:1.06,95%可信区间:0.50 - 2.23)。GSTM1无效基因型在非吸烟者中频率很高(比值比:3.25,95%可信区间:1.66 - 6.35),在吸烟者中频率适中(比值比:2.50,95%可信区间:1.28 - 4.86)。此外,携带GSTM1无效、GSTT1和GSTP1 105-Val等位基因的联合基因型患ARC的风险增加(比值比:2.91,95%可信区间:1.31 - 6.44)。
这些数据可能提供证据表明GSTM1基因多态性可能与发生ARC的遗传易感性相关。需要更大规模的研究来验证这些发现。