Juronen E, Tasa G, Veromann S, Parts L, Tiidla A, Pulges R, Panov A, Soovere L, Koka K, Mikelsaar A V
Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Estonia.
Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2262-7.
To investigate the possible association between glutathione S-transferase GSTM1, GSTM3, GSTT1, and GSTP1 polymorphism and the occurrence of age-related cataracts in Estonian patients.
Patients with cortical (155), nuclear (77), posterior subcapsular (120), mixed type (151) of senile cataract and control individuals (202) were phenotyped for GSTM1 and GSTT1 by enzyme-linked immunosorbent assay and genotyped for GSTM3 and GSTP1 by polymerase chain reaction.
The frequency of the GSTM1-positive phenotype was significantly higher in the cortical cataract group (60.6%) than in the controls (45.0%) with odds ratio of 1.88 (95% CI, 1.23-2.94; P = 0.004). The cortical cataract risk associated with the GSTM1-positive phenotype was increased in carriers of the combined GSTM1-positive/GSTT1-positive phenotype (OR = 1.99; 95% CI, 1.30-3.11; P = 0.002) and the GSTM1-positive/GSTM3 AA genotype (OR = 2.28; 95% CI, 1.51-3.73; P < 0.001). The highest risk of cortical cataract was observed in patients having all three susceptible genotypes (OR = 2.56; 95% CI, 1.59-4.11; P < 0.001). Also, a significant interaction between the presence of the GSTP1* A allele and cortical cataract was found with prevalence of the GSTP1* A allele among the cortical cataract cases compared with the controls. Ninety-five percent of subjects with cortical cataract had the GSTP1 (AA, AB, or AC) genotype, whereas in controls 87% of persons had a genotype with GSTP1A allele (OR = 3.1; 95% CI, 1.31-7.35; P = 0.007). In contrast to the GSTP1A allele, the presence of the GSTP1B allele in one or two copies leads to decreased cortical cataract risk (OR = 0.09 for GSTP1 BB genotype). CONCLUSIONS. The GSTM1-positive phenotype as well as the presence of the GSTP1A allele may be a genetic risk factor for development of cortical cataract.
研究谷胱甘肽S-转移酶GSTM1、GSTM3、GSTT1和GSTP1基因多态性与爱沙尼亚患者年龄相关性白内障发生之间的可能关联。
对皮质性（155例）、核性（77例）、后囊下（120例）、混合型（151例）老年性白内障患者及对照个体（202例）采用酶联免疫吸附测定法对GSTM1和GSTT1进行表型分析，采用聚合酶链反应对GSTM3和GSTP1进行基因分型。
皮质性白内障组中GSTM1阳性表型的频率（60.6%）显著高于对照组（45.0%），优势比为1.88（95%可信区间，1.23 - 2.94；P = 0.004）。与GSTM1阳性表型相关的皮质性白内障风险在GSTM1阳性/GSTT1阳性联合表型携带者（OR = 1.99；95%可信区间，1.30 - 3.11；P = 0.002）和GSTM1阳性/GSTM3 AA基因型携带者中增加（OR = 2.28；95%可信区间，1.51 - 3.73；P < 0.001）。在具有所有三种易感基因型的患者中观察到皮质性白内障的最高风险（OR = 2.56；95%可信区间，1.59 - 4.11；P < 0.001）。此外，发现GSTP1A等位基因的存在与皮质性白内障之间存在显著相互作用，与对照组相比，皮质性白内障病例中GSTP1A等位基因的患病率更高。95%的皮质性白内障患者具有GSTP1（AA、AB或AC）基因型，而对照组中87%的人具有携带GSTP1A等位基因的基因型（OR = 3.1；95%可信区间，1.31 - 7.35；P = 0.007）。与GSTP1A等位基因相反，一个或两个拷贝的GSTP1B等位基因的存在导致皮质性白内障风险降低（GSTP1 BB基因型的OR = 0.09）。结论。GSTM1阳性表型以及GSTP1A等位基因的存在可能是皮质性白内障发生的遗传危险因素。
