谷胱甘肽S-转移酶P1基因p.Ile105Val（rs1695，c.313A＞G）变异与埃及女性乳腺癌风险的关联
Association of GSTP1 p.Ile105Val (rs1695, c.313A > G) Variant with the Risk of Breast Carcinoma among Egyptian Women.
作者信息
Youssef Magdy M, Elsaid Afaf M, El-Saeed Rasha A, Mukhlif Riyadh T, Megahed Hisham, Al-Alawy Adel I, Elshazli Rami M
机构信息
Biochemistry Division, Chemistry Department, Faculty of Science, Mansoura University, Mansoura, Egypt.
Genetic Unit, Children Hospital, Mansoura University, Mansoura, Egypt.
出版信息
Biochem Genet. 2021 Dec;59(6):1487-1505. doi: 10.1007/s10528-021-10070-x. Epub 2021 May 3.
Several reports examined the association of the GSTP1 p.Ile105Val (rs1695, c.313A > G) variant with the elevated risk of multiple cancerous diseases involving breast carcinoma, but with inconclusive findings. The primary purpose of this study is to test the association of this essential variant with the risk of breast carcinoma among Egyptian females. This case-control study was conducted based on 200 participants involving 100 women diagnosed with breast carcinoma and 100 unrelated cancer-free controls from the same district. The genomic DNA for all participants was genotyped utilizing T-ARMS-PCR procedure. The frequencies of the GSTP1 p.Ile105Val (rs1695, c.313A > G) variant indicated a statistically significant with the elevated risk of breast carcinoma under various genetic models, including allelic (OR = 2.48, P-value < 0.001) and dominant (OR = 2.36, P-value = 0.003) models. In conclusion, the GSTP1 p.Ile105Val (rs1695, c.313A > G) variant was considered as an independent risk factor for breast carcinoma among Egyptian women.
几份报告研究了GSTP1基因p.Ile105Val（rs1695，c.313A>G）变异与包括乳腺癌在内的多种癌症疾病风险升高之间的关联，但结果尚无定论。本研究的主要目的是检验这一关键变异与埃及女性患乳腺癌风险之间的关联。这项病例对照研究基于200名参与者开展，其中包括100名被诊断患有乳腺癌的女性以及来自同一地区的100名无癌对照个体。利用T-ARMS-PCR方法对所有参与者的基因组DNA进行基因分型。GSTP1基因p.Ile105Val（rs1695，c.313A>G）变异的频率在包括等位基因（OR=2.48，P值<0.001）和显性（OR=2.36，P值=0.003）模型在内的各种遗传模型下均表明与乳腺癌风险升高具有统计学意义。总之，GSTP1基因p.Ile105Val（rs1695，c.313A>G）变异被认为是埃及女性患乳腺癌的一个独立危险因素。
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