Parvizi Somayeh, Mohammadzadeh Ghorban, Karimi Maryam, Noorbehbahani Mozhgan, Jafary Alireza
Department of Biology, Faculty of Basic Science, Islamic Azad University, Science and Research Branch, Tehran, IR Iran.
Department of Biochemistry, Faculty of Medicine, Hyperlipidemia Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IR Iran.
Iran J Cancer Prev. 2016 Feb 24;9(1):e5266. doi: 10.17795/ijcp-5266. eCollection 2016 Feb.
Transforming growth factor-β1 (TGF-β1) has a critical role in breast cancer initiation and progression.
We have investigated the possible differences in two promoter polymorphisms (-509C/T and -800G/A) of TGF-β1 gene between breast cancer cases and controls.
A total of 100 patients with confirmed breast cancer and 100 subjects without breast cancer was selected. Two promoter polymorphisms (-509C/T and -800G/A) of TGF-β1 gene were genotyped using PCR-based restriction fragment length polymorphism (RFLP) method.
The allele frequencies were 63% for C allele and 37% for T allele of SNP -509C/T and 66% for G allele and 34% for A allele of SNP -800G/A. Although no significant difference has observed between two groups, according to the genotype distribution, However, the TT genotype of -509 and AA genotype of -800 was significantly associated with breast cancer risk [odds ratio (OR) = 2.409; 95% confidence interval (CI) = 1.087 - 5.337, P = 0.030; and OR = 2.383; CI = 1.039 - 5.40, P = 0.040, respectively]. In addition, a multinomial logistic regression model shown, homozygous of -800 G/A (OR = 0.570; 95% CI = 0.362 - 0.896, P = 0.015); and HDL-C (OR = 0.935; 95% CI = 0.906 - 0.965, P < 0.001) were the selected variables associated with the presence of breast cancer. Haplotype analysis has shown no significant association between TGF-β1 haplotypes and breast cancer risk.
Our results indicated that among two promoter polymorphisms of the TGF-β1gene, -800G/A compared to -509C/T is more associated with breast cancer.
转化生长因子-β1(TGF-β1)在乳腺癌的发生和发展中起关键作用。
我们研究了TGF-β1基因的两个启动子多态性(-509C/T和-800G/A)在乳腺癌病例和对照之间可能存在的差异。
共选取100例确诊乳腺癌患者和100例无乳腺癌受试者。采用基于聚合酶链反应的限制性片段长度多态性(RFLP)方法对TGF-β1基因的两个启动子多态性(-509C/T和-800G/A)进行基因分型。
单核苷酸多态性(SNP)-509C/T的C等位基因频率为63%,T等位基因频率为37%;SNP-800G/A的G等位基因频率为66%,A等位基因频率为34%。虽然两组之间未观察到显著差异,但根据基因型分布,-509的TT基因型和-800的AA基因型与乳腺癌风险显著相关[比值比(OR)=2.409;95%置信区间(CI)=1.087 - 5.337,P = 0.030;OR = 2.383;CI = 1.039 - 5.40,P = 0.040]。此外,多项逻辑回归模型显示,-800 G/A的纯合子(OR = 0.570;95% CI = 0.362 - 0.896,P = 0.015);以及高密度脂蛋白胆固醇(HDL-C)(OR = 0.935;95% CI = 0.906 - 0.965,P < 0.001)是与乳腺癌存在相关的选定变量。单倍型分析显示TGF-β1单倍型与乳腺癌风险之间无显著关联。
我们的结果表明,在TGF-β1基因的两个启动子多态性中,与-509C/T相比,-800G/A与乳腺癌的关联更强。