Abstract
Glutathione S-transferases (GSTs) constitute a multigene family of multifunctional phase II metabolic enzymes. GSTT1, an important member of this group has a wide range of substrates including carcinogens. Total homozygous deletion or null genotype resulting in total lack of enzyme activity exists in populations for this enzyme. Since the null genotype may contribute to lower detoxification of carcinogens, this genotype is expected to increase cancer risk. The frequency of the GSTT1 null genotype is known to vary significantly among populations. However, little is known about its distribution in the hilly Kumaun region of northern India. Therefore, in this study, we determined the prevalence of the GSTT1 null polymorphism in the Kumaun popilation by conducting duplex PCR in 365 voluntary healthy individuals. The GSTT1 null genotype was detected in 18.4% of the individuals. Since GSTs play significant role in xenobiotic metabolism, the present data on GSTT1 genotype distribution should contribute in understanding genetic association with cancer risk in this understudied population.
Highlights
Genetic polymorphisms of metabolic enzymes are able to modify normal metabolic pathways for xenobiotics in our body
In this study, we determined the prevalence of the GSTT1 null polymorphism in the Kumaun popilation by conducting duplex polymerase chain reaction (PCR) in 365 voluntary healthy individuals
Total gene deletion or null polymorphism that leads to no functional enzymatic activity, and frequently affects both alleles has been reported to be present in populations for GSTT1 and GSTM1
Summary
Genetic polymorphisms of metabolic enzymes are able to modify normal metabolic pathways for xenobiotics in our body. The frequency of the GSTT1 null genotype is known to vary significantly among populations. In this study, we determined the prevalence of the GSTT1 null polymorphism in the Kumaun popilation by conducting duplex PCR in 365 voluntary healthy individuals. The GSTT1 null genotype was detected in 18.4% of the individuals.
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