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Environmental Health and Preventive Medicine
Published in: Environmental Health and Preventive Medicine 5/2016

01-09-2016 | Short Communication

Influence of A-21T and C-262T genetic polymorphisms at the promoter region of the catalase (CAT) on gene expression

Authors: Khyber Saify, Iraj Saadat, Mostafa Saadat

Published in: Environmental Health and Preventive Medicine | Issue 5/2016

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Abstract

Objective

Catalase (CAT, OMIM: 115500) is one of the major antioxidant enzymes, which plays an important role in the clearance of reactive oxygen species. Three genetic polymorphisms of A-21T (rs7943316), C-262T (rs1001179), and C-844T (rs769214) in the promoter region of the CAT have been reported. It has been suggested that these polymorphisms may alter the recognition sites of transcriptional factors, therefore it might be concluded that these polymorphisms may alter the expression levels of the gene. The aim of the present study is to evaluate the associations between these genetic variations and the CAT mRNA levels in human peripheral blood cells.

Methods

The present study consisted of 47 healthy students of Shiraz University (south-west Iran). Genotypes of the CAT polymorphisms were determined by PCR based method. The quantitative CAT mRNA expression levels were investigated using quantitative real-time PCR.

Results

Analysis of variance revealed significant differences between the study genotypes (For A-21T polymorphism: F = 7.45; df = 2, 44; P = 0.002; For C-262T polymorphism: F = 15.17; df = 2, 44; P < 0.001). The studied polymorphisms showed linkage disequilibrium (D′ = 1.0, r 2 = 0.1813, χ 2 = 17.03, P < 0.0001). The mRNA levels of CAT in the AC/TT, TC/TC, TC/TT, and TC/TC diplotypes significantly were higher than the mRNA levels in AC/AC diplotype. There was a significant difference between the study genotypes (F = 9.24; df = 5, 41; P < 0.001). The TC/TC and TT/TT diplotypes showed about 2 and 4 folds CAT mRNA levels compared with the AC/AC diplotype.

Conclusions

The present findings indicated that these polymorphisms were significantly associated with the gene expression.
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Metadata
Title
Influence of A-21T and C-262T genetic polymorphisms at the promoter region of the catalase (CAT) on gene expression
Authors
Khyber Saify
Iraj Saadat
Mostafa Saadat
Publication date
01-09-2016
Publisher
Springer Japan
Published in
Environmental Health and Preventive Medicine / Issue 5/2016
Print ISSN: 1342-078X
Electronic ISSN: 1347-4715
DOI
https://doi.org/10.1007/s12199-016-0540-4

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