Association between glutathione peroxidase 1 codon 198 variant and the occurrence of breast cancer in Rwanda

作者：Habyarimana Thierry; Bakri Youssef; Mugenzi Pacifique; Baptiste Mazarati Jean; Attaleb Mohammed; El Mzibri Mohammed

来源：Molecular Genetics & Genomic Medicine, 2018, 6(2): 268-275.

DOI：10.1002/mgg3.367

<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Glutathione peroxidase 1 gene (<jats:italic><jats:styled-content style="fixed-case">GPX</jats:styled-content>1</jats:italic>) is one of the antioxidant enzyme that remove the reactive oxygen species in a continuous process. Since the identification of a well‐characterized functional polymorphism named p.Pro198Leu (rs1050450 C&gt;T) in <jats:italic><jats:styled-content style="fixed-case">GPX</jats:styled-content>1</jats:italic> gene, abundant studies have evaluated the association between p.Pro198Leu polymorphism and tumor risk in diverse population. But, the available results related to breast cancer are conflicting and absent in Africa. The present case–control study was planned to assess the presence of <jats:styled-content style="fixed-case">GPX</jats:styled-content>1 Pro198Leu polymorphism in Rwanda population to determine whether it is associated with the risk of developing breast cancer.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Genomic <jats:styled-content style="fixed-case">DNA</jats:styled-content> from peripheral blood leukocytes of 41 patients with breast cancer and 42 healthy controls were enrolled and genotyped <jats:styled-content style="fixed-case">GPX</jats:styled-content>1 Pro198Leu polymorphism by <jats:styled-content style="fixed-case">PCR</jats:styled-content> amplification and <jats:styled-content style="fixed-case">DNA</jats:styled-content> sequencing.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>No significant difference in the frequencies of Pro/Pro (49%) and Pro/Leu (51%) genotypes in cancer cases and in controls (50% each) were found. The allelic frequencies of Pro and Leu were 74% versus 26% and 75% versus 25% in breast cancer cases and controls respectively. No association was observed in allele frequencies of Pro and Leu, and familial history. Only an overall association of <jats:styled-content style="fixed-case">GPX</jats:styled-content>1 Pro198Leu with grade of cancer (Pro/Leu vs. Pro/Pro: <jats:italic>p </jats:italic>=<jats:italic> </jats:italic>.0200) was detected.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>The result of this study suggested that <jats:styled-content style="fixed-case">GPX</jats:styled-content>1 Pro198Leu polymorphism could not be a risk factor for breast cancer in Rwanda. However, large‐scale studies on the effect of this polymorphism on the factors disturbing the redox homeostasis are needed for conclusive understanding.</jats:p></jats:sec>

• 出版日期2018-3