Abstract
ObjectiveSuperoxide dismutase-1 (SOD1, OMIM: 147450) is one of the major antioxidant enzymes, which plays a vital role in clearance of reactive oxygen species. A genetic polymorphism of 50 bp insertion/deletion (Ins/Del) in the promoter region of the SOD1 was reported. The aims of the present study are to evaluate the influence of this polymorphism on the SOD1 mRNA levels in human peripheral blood cells and its association with risk of heroin dependency.MethodsThe present study consisted of 47 healthy students of Shiraz University (south-west Iran) for investigating the association between the Ins/Del polymorphism on expression level of SOD1, also a total of 442 heroin dependent and 799 healthy controls were included in a case-control study investigating the association between the study polymorphism and risk of dependency to heroin. The quantitative SOD1 mRNA expression levels were investigated using quantitative real-time PCR.ResultsStatistical analysis revealed a significant difference between the study genotypes (t = 5.17; df = 45; P < 0.001). The Del allele of the study polymorphism decreased approximately 33% of the SOD1 mRNA levels of the gene in the heterozygote individuals. Statistical analysis indicating that in both genders, neither the Ins/Del nor the Del/Del genotypes was associated with the risk of heroin addiction.ConclusionsThe present study indicating that although the Ins/Del polymorphism of SOD1 is associated with the SOD1 expression levels, this polymorphism is not associated with the risk of dependency to heroin.
Highlights
Superoxide dismutase-1 (EC 1.15.1.1; SOD1, OMIM: 147450), a major cytoplasmic antioxidant enzyme is a copper- and zinc-containing enzyme
In order to detect a real difference in mRNA levels between the genotypes of the Ins/Del polymorphism with a power of 0.90, α = 0.05, R2g = 0.25, 15% frequency of the minor allele, a minimum sample of 27 would be necessary
Statistical analysis revealed that there was a significant difference between the Ins/Ins and Ins/Del genotypes for the expression levels of SOD1 (t = 5.17, df = 45, P < 0.001)
Summary
Superoxide dismutase-1 (EC 1.15.1.1; SOD1, OMIM: 147450), a major cytoplasmic antioxidant enzyme is a copper- and zinc-containing enzyme. Several genetic polymorphisms in the SOD1 have been reported in human populations Previous studies have shown that SOD1 polymorphisms were associated with the risks of senile cataract, cancers, etc [6,7,8,9,10,11]. A genetic polymorphism has been reported in the promoter region of SOD1 (1684 bp upstream of the ATG start codon) [12]. This is called 50 bp insertion/deletion (Ins/Del) polymorphism. It has been shown that the 50 bp-deleted region contains a number of transcription factor binding sites.
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