Influence of a 50bp Ins/Del polymorphism at promoter of the superoxide dismutase-1 on gene expression and risk of heroin dependency

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.

Screening for Novel LOX and SOD1 Variants in Keratoconus Patients from Brazil

“…This is a noteworthy finding, since alterations in the SOD1 promoter region sequence may cause a decrease in protein expression, as shown for other disorders. [41,42] The SOD1 protein neutralizes excess ROS in the cell, and ROS levels are increased in patients with KC. [43][44][45] Low levels of SOD1 enzyme can also result from gene mutations.…”

Association between a 50bp Ins/Del polymorphism at the promoter region of the superoxide dismutase-1 and age of onset of schizophrenia

“…Numerous genetic variations have been identified in the SOD1 , including a 50bp Insertion/Deletion (Ins/Del) polymorphism in the promoter region of the gene (1684 bp upstream of the ATG start codon). Studies have been reported that the Del allele reduces promoter activity of the gene (Broom et al, 2008[ 1 ]; Saify and Saadat, 2017[ 8 ]). It has been reported that although this polymorphism is not associated with the risk of bipolar disorder type 1, it is associated with age of onset of the disorder (Kordestanian and Saadat, 2017[ 2 ]).…”

“…The study was approved by the Ethics Committee of Shiraz University. Genotyping was carried out using specific primers as described previously (Saify and Saadat, 2017[ 8 ]).…”

Susceptibility to preeclampsia is associated with a 50-bp insertion/deletion polymorphism at the promoter region of the <i>SOD1</i> gene

“…A 50 bp insertion/deletion (Ins/Del) in the SOD1 promoter region has been reported ( 10 ). This is a functional polymorphism and alters gene expression with the Del allele resulting in lower SOD1 mRNA levels ( 11 ). Association between the SOD1 expression level and PE has been investigated ( 12 ).…”