Article

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

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
Molecular vision (Impact Factor: 2.25). 10/2010; 16:2146-52.
Source: PubMed

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

Download full-text

Full-text

Available from: Shazia Micheal, Jul 07, 2015
1 Follower
 · 
195 Views
  • Source
    • "DNA was isolated, using a phenol-chloroform protocol (Khan et al., 2010). Isolated DNA was electrophoresed on 1% agarose gels and stained with ethidium bromide. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Deletions in GSTM1 and GSTT1 genes are considered to be a risk factor for cancer development but the exact location of these deletions in the genome was unknown. Three main objectives of the current study were to: (a) identify the boundaries of these deletions in the human genome, (b) screen homozygous (-/-) and heterozygous (+/-) deleted, as well as homozygous present (+/+) individuals using PCR assays, (c) detect associations of pharyngeal (PC) and laryngeal cancer (LC) with the respective genotypes. In total, 102 PC and 92 LC patients were screened and compared with 150 controls. PCR mapping and sequencing revealed a 6 kbp deletion for GSTM1 and a 9 kbp deletion for the GSTT1 gene. The mean age of PC cases was 48.1 (±16.7) years; for LC cases it was 48.5 (±17.4) years and for controls 46 (±17.7) years. The OR (odds ratio) for the GSTM1 null genotype in PC and LC cases was 10.2 and 1.0 (95% CI 5.04-20.7 and 1.1-1.7) respectively. Similarly, for GSTT1 the OR was 4.02 with a 95% CI of 2.3-7.1 in PC cases. For LC cases the OR was 0.8 with 95% CI of 0.4-1.7. A non-significant number of LC and PC patients had heterozygous deletions of GSTM1 compared to controls (OD 0.5, 95% CI 0.2- 1.6 and OR 0.5, 95% CI 0.2- 1.5 respectively). The GSTT1 gene also showed a non-significant association in PC (OD 0.9, 95% CI 0.4-1.9), as well as in LC patients (OD 0.7, 95% CI 0.3-1.7). The homozygous genotype was significantly associated with PC and LC, whereas the heterozygous was not so. The GSTM1 (-/-) and GSTT1 (-/-) genotypes are a risk factor for LC and PC, whereas the (+/-) genotypes are not.
    Genetics and Molecular Biology 03/2013; 36(1):1-6. DOI:10.1590/S1415-47572013005000006 · 0.88 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The aim of the present study was to investigate the association of glutathione S-transferase GSTT1 and GSTM1 genotypes with pseudoexfoliation syndrome (PEX). Multiplex polymerase chain reaction was used to study the GSTT1 and GSTM1 polymorphisms in 144 PEX patients and 142 unaffected controls. In the current study we have determined a significant association of GSTM1 genotype with PEX in the female patients (χ²=5.96; p=0.015). The two plus genotype combination (i.e., T1M1) was found at significantly higher frequencies in the control group as compared to the PEX patients (χ²=5.67, p=0.018). This association was specifically related to the female patients (χ²=4.99; p=0.026); no association was seen in the male patients (χ²=0.75; p=0.39). The results suggest that there should be a significant involvement of the GSTT1 and GSTM1 polymorphisms in XFS etiopathogenesis in Kursk population.
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Purpose: Single nucleotide polymorphisms (SNPs) rs1048661 (p.R141L) and rs3825942 (p.G153D) in the lysyl oxidaselike 1 (LOXL1) gene have been previously reported to be associated with pseudoexfoliation glaucoma (PEXG) in various Asian and European populations, but these SNPs have not yet been studied in the Pakistani population. Therefore the aim of the present study was to investigate the association of these two coding LOXL1 SNPs in Pakistani PEXG patients. Methods: One hundred twenty-eight Pakistani patients diagnosed with PEXG and 180 healthy controls were recruited for the study. Genomic DNA was extracted and both SNPs were genotyped by direct sequencing. Association of genotype and allele frequencies with PEXG were analyzed using the Chi-square (χ2) test. Results: Genotype and allele frequencies of both rs1048661 and rs3825942 were found to be significantly associated with PEXG. The GG genotypes of both LOXL1 SNPs were associated with an increased risk of developing PEXG. In addition the G alleles of rs1048661 and rs3825942 confer an increased risk for PEXG with an odds ratio (OR) of 2.98 (95% CI 1.94–4.57) and OR 6.83 (95% CI 2.94–16.67), respectively. Conclusions: A significant association was found for the G allele of rs1048661 and rs3825942 in PEXG patients of Pakistani origin.
    Molecular vision 04/2012; 18(18):1040-1044. · 2.25 Impact Factor