Habyarimana Thierry, Bakri Youssef, Mugenzi Pacifique, Mazarati Jean Baptiste, Attaleb Mohammed, El Mzibri Mohammed
Biology and Medical Research Unit, Centre National de l'Energie, des Sciences et des Techniques Nucléaires (CNESTEN), Rabat, Morocco.
Biology of Human Pathologies Laboratory (BioPatH), Faculty of Science & Human Pathologies Center (GenoPatH), Mohammed V University, Rabat, Morocco.
Mol Genet Genomic Med. 2018 Mar;6(2):268-275. doi: 10.1002/mgg3.367. Epub 2018 Feb 6.
Glutathione peroxidase 1 gene (GPX1) 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>T) in GPX1 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 GPX1 Pro198Leu polymorphism in Rwanda population to determine whether it is associated with the risk of developing breast cancer.
Genomic DNA from peripheral blood leukocytes of 41 patients with breast cancer and 42 healthy controls were enrolled and genotyped GPX1 Pro198Leu polymorphism by PCR amplification and DNA sequencing.
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 GPX1 Pro198Leu with grade of cancer (Pro/Leu vs. Pro/Pro: p = .0200) was detected.
The result of this study suggested that GPX1 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.
谷胱甘肽过氧化物酶1基因（GPX1）是一种抗氧化酶，可在连续过程中清除活性氧。自从在GPX1基因中鉴定出一个特征明确的功能性多态性位点p.Pro198Leu（rs1050450 C>T）以来，大量研究评估了p.Pro198Leu多态性与不同人群肿瘤风险之间的关联。但是，与乳腺癌相关的现有结果相互矛盾，且非洲地区尚无相关研究。本病例对照研究旨在评估卢旺达人群中GPX1 Pro198Leu多态性的存在情况，以确定其是否与患乳腺癌的风险相关。
纳入41例乳腺癌患者和42例健康对照者外周血白细胞的基因组DNA，通过PCR扩增和DNA测序对GPX1 Pro198Leu多态性进行基因分型。
在癌症病例组和对照组中，Pro/Pro基因型（49%）和Pro/Leu基因型（51%）的频率无显著差异（每组均为50%）。乳腺癌病例组和对照组中Pro和Leu的等位基因频率分别为74%对26%和75%对25%。未观察到Pro和Leu等位基因频率与家族史之间存在关联。仅检测到GPX1 Pro198Leu与癌症分级存在总体关联（Pro/Leu与Pro/Pro相比：p = 0.0200）。
本研究结果表明，在卢旺达，GPX1 Pro198Leu多态性可能不是乳腺癌的危险因素。然而，需要对该多态性对干扰氧化还原稳态因素的影响进行大规模研究，以得出确定性结论。
