| Purpose To investigate the possible association between copy number variations (CNVs) of Glutathione S-Transferase M1 (GSTM1) and Glutathione S-Transferase T1 (GSTT1) and the occurrence of age-related cataract (ARC) in Han Chinese.Methods 279 ARC patients with cortical (131), nuclear (70), posterior subcapsular (78) were collected and 145 age-matched and gender-matched controls were collected from Affiliated Hospital of Nantong University and the epidemic base in the town of guanyinshan. Using a real-time polymerase chain reaction (RT-PCR), quantification of GSTM1 and GSTT1 gene copy numbers were analyzed. The frequency distribution of CNVs in the cataract groups and the comparison were analyzed by chi-square test.Results CNV of the GSTM1 gene had a non-significant association with the development of ARC (P>0.48). No association was detected between the GSTM1 gene CNV with ARC subgroups (all P value>0.05). Significant associations were detected between double deletion for the GSTT1 functional gene with ARC with an OR of 1.74 (P=0.00,95%CI=1.14-2.68). This relationship in GSTT1 double deletion subjects was only in cortical (P=0.04) and posterior subcapsular types cataract cases (P=0.00). No association was detected between other GSTM1 gene CNV with ARC subgroups. The frequencies of GSTM1 and GSTT1 double deletion in Han Chinese in our study was accord with the frequencies in Japan, but different from the Caucasus.Conclusions The GSTT1 gene double deletion not the GSTM1 gene may be a genetic risk factor for ARC, especially for cortical and posterior subcapsular cataract. The frequencies of GSTM1 and GSTT1 double deletion was identical in Asian populations but different from the Caucasus. The RT-PCR method accurately determines CNV in the GST genes enabling reliable estimates of disease prediction in epidemiological samples. To our knowledge, this is the first accurate study exploring the influence of GST gene CNVs on ARC.
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