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Erkki Juronen, Gunnar Tasa, Siiri Veromann, Lii Parts, Anne Tiidla, Riina Pulges, Aleksei Panov, Leili Soovere, Külle Koka, Aavo-Valdur Mikelsaar; Polymorphic Glutathione S-Transferases as Genetic Risk Factors for Senile Cortical Cataract in Estonians. Invest. Ophthalmol. Vis. Sci. 2000;41(8):2262-2267.
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purpose. 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.
methods. 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
results. 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 GSTP1*A allele
(OR = 3.1; 95% CI, 1.31–7.35; P = 0.007). In
contrast to the GSTP1*A allele, the presence of the GSTP1*B 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 GSTP1*A allele may be a genetic risk factor for development
of cortical cataract.
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