The association of glutathione S-transferase GSTT1 and GSTM1 gene polymorphism with pseudoexfoliative glaucoma in a Pakistani population

Abstract

Purpose: The aim of the present study was to investigate the association of glutathione S-transferase GSTT1 and GSTM1 genotypes with pseudoexfoliative glaucoma (PEXG) in a group of Pakistani patients.

Methods: Multiplex polymerase chain reaction was used to study the GSTT1 and GSTM1 polymorphisms in 165 PEXG patients and 162 unaffected controls.

Results: In the current study we describe a significant gender-specific association of GSTT1 and GSTM1 null genotypes with PEXG. The three null genotype combinations (i.e., T1M0, T0M1, and T0M0) were found at significantly higher frequencies in the PEXG patients as compared to the controls (χ(2)=21.82, p<0.001). This association was specifically related to the female patients (χ(2)=35.63, p<0.001); no such association was seen in the male patients (χ(2)=2.28, p>0.05).

Conclusions: The results suggest that there is a significant involvement of the GSTT1 and GSTM1 polymorphisms in female Pakistani patients having PEXG, which suggests a possible gender-specific impairment of detoxification in this group.

Figure 1

Multiplex PCR amplification product of the GSTT1, GSTM1 and internal control β-globin genes. The amplified products were separated by electrophoresis on 2% agarose gel. Lane L, 100bp DNA ladder; lane 1, 4, 9, and 10, T1/M0 genotype (459 bp and 268 bp fragments); lane 2, 3, and 8, T1/M1 genotype (459 bp, 268 bp, and 209 bp fragments); lane 5, T0/M1 genotype (268 bp and 209 bp fragments); lane 6, 7, and 11, T0/M0 genotype (268 bp fragments).