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Abstract：
OBJECTIVE: To reveal the contributing effects of MTDH gene SNPs in the risk of invasive ductal breast cancer (IDC).
METHODS: A case-control study was conducted, recruiting a total of 300 cases of IDC and 565 cancer-free controls from East China. Genotyping of three single-nucleotide polymorphisms (SNPs) in the MTDH gene was performed. Genomic DNA was extracted from peripheral blood samples of patients. The three SNPs (rs1311 T > C, rs16896059 G > A, rs2449512 A > G) in the MTDH gene were selected for detection using a TaqMan real-time polymerase chain reaction assay. The association between MTDH and the risk of IDC was analyzed employing an epidemiology case-control study and a multinomial logistic regression model.
RESULTS: Among the three evaluated SNPs, rs1311 T > C, rs16896059 G > A, and rs2449512 A > G demonstrated a significant association with an increased risk of IDC. Furthermore, stratified analysis revealed that individuals carrying the rs1311 CC genotype, rs16896059 GA/AA genotypes, and rs2449512 GG genotype were more susceptible to developing IDC in subgroups of patients younger than 53 years, without family history of IDC, pre-menopause status, clinical stage 2, high grade, with no distant metastasis or invasion, Her2-positive type, ER positive, PR positive, and Ki67 cells less than 10%. However, carriers of the rs16896059 GA/AA genotypes and rs2449512 GG genotype had an elevate the risk of IDC in patients with tumor size larger than 2 cm, post-menopause status, clinical stage 3, with invasion, lymph node infiltration, ER negative, PR negative, Her2 negative, and Ki67 cells exceeding 10%. Compared to the reference haplotype TGA, haplotypes TAA, TAG, and TGG were significantly associated with an increased IDC risk.
CONCLUSIONS: In this study, we demonstrated a significant association between MTDH gene polymorphisms and an increased risk of IDC. Moreover, our findings suggested that MTDH gene polymorphisms could serve as a potential biomarker for IDC subtyping and therapeutic selection.
METHODS: A case-control study was conducted, recruiting a total of 300 cases of IDC and 565 cancer-free controls from East China. Genotyping of three single-nucleotide polymorphisms (SNPs) in the MTDH gene was performed. Genomic DNA was extracted from peripheral blood samples of patients. The three SNPs (rs1311 T > C, rs16896059 G > A, rs2449512 A > G) in the MTDH gene were selected for detection using a TaqMan real-time polymerase chain reaction assay. The association between MTDH and the risk of IDC was analyzed employing an epidemiology case-control study and a multinomial logistic regression model.
RESULTS: Among the three evaluated SNPs, rs1311 T > C, rs16896059 G > A, and rs2449512 A > G demonstrated a significant association with an increased risk of IDC. Furthermore, stratified analysis revealed that individuals carrying the rs1311 CC genotype, rs16896059 GA/AA genotypes, and rs2449512 GG genotype were more susceptible to developing IDC in subgroups of patients younger than 53 years, without family history of IDC, pre-menopause status, clinical stage 2, high grade, with no distant metastasis or invasion, Her2-positive type, ER positive, PR positive, and Ki67 cells less than 10%. However, carriers of the rs16896059 GA/AA genotypes and rs2449512 GG genotype had an elevate the risk of IDC in patients with tumor size larger than 2 cm, post-menopause status, clinical stage 3, with invasion, lymph node infiltration, ER negative, PR negative, Her2 negative, and Ki67 cells exceeding 10%. Compared to the reference haplotype TGA, haplotypes TAA, TAG, and TGG were significantly associated with an increased IDC risk.
CONCLUSIONS: In this study, we demonstrated a significant association between MTDH gene polymorphisms and an increased risk of IDC. Moreover, our findings suggested that MTDH gene polymorphisms could serve as a potential biomarker for IDC subtyping and therapeutic selection.
摘要：
目的：揭示MTDH基因SNP在浸润性导管乳腺癌（IDC）发病风险中的作用。
方法：进行了病例对照研究，从华东地区招募了300例IDC和565例无癌对照。对MTDH基因中的三个单核苷酸多态性（SNP）进行了基因分型。从患者的外周血样本中提取基因组DNA。三个SNP(rs1311T>C，rs16896059G>A,选择MTDH基因中的rs2449512A>G）用于使用TaqMan实时聚合酶链反应测定法进行检测。使用流行病学病例对照研究和多项逻辑回归模型分析了MTDH与IDC风险之间的关联。
结果：在三个评估的SNP中，rs1311T>C,rs16896059G>A,rs2449512A>G显示与IDC风险增加显著相关。此外，分层分析显示，携带rs1311CC基因型的个体，rs16896059GA/AA基因型,rs2449512GG基因型在年龄小于53岁的患者亚组中更容易发生IDC，没有IDC家族史,绝经前状态,临床2期，高等级，没有远处转移或侵袭，Her2阳性类型，ER阳性,PR阳性，Ki67细胞少于10%。然而,rs16896059GA/AA基因型和rs2449512GG基因型的携带者在肿瘤大小大于2厘米的患者中增加了IDC的风险，绝经后状态，临床3期，有侵袭，淋巴结浸润,ER阴性,PR阴性,Her2阴性,Ki67细胞超过10%。与参考单倍型TGA相比，单倍型TAA,TAG,和TGG与IDC风险增加显著相关。
结论：在这项研究中，我们证明MTDH基因多态性与IDC风险增加之间存在显著关联.此外，我们的研究结果表明,MTDH基因多态性可作为IDC亚型分型和治疗选择的潜在生物标志物.
方法：进行了病例对照研究，从华东地区招募了300例IDC和565例无癌对照。对MTDH基因中的三个单核苷酸多态性（SNP）进行了基因分型。从患者的外周血样本中提取基因组DNA。三个SNP(rs1311T>C，rs16896059G>A,选择MTDH基因中的rs2449512A>G）用于使用TaqMan实时聚合酶链反应测定法进行检测。使用流行病学病例对照研究和多项逻辑回归模型分析了MTDH与IDC风险之间的关联。
结果：在三个评估的SNP中，rs1311T>C,rs16896059G>A,rs2449512A>G显示与IDC风险增加显著相关。此外，分层分析显示，携带rs1311CC基因型的个体，rs16896059GA/AA基因型,rs2449512GG基因型在年龄小于53岁的患者亚组中更容易发生IDC，没有IDC家族史,绝经前状态,临床2期，高等级，没有远处转移或侵袭，Her2阳性类型，ER阳性,PR阳性，Ki67细胞少于10%。然而,rs16896059GA/AA基因型和rs2449512GG基因型的携带者在肿瘤大小大于2厘米的患者中增加了IDC的风险，绝经后状态，临床3期，有侵袭，淋巴结浸润,ER阴性,PR阴性,Her2阴性,Ki67细胞超过10%。与参考单倍型TGA相比，单倍型TAA,TAG,和TGG与IDC风险增加显著相关。
结论：在这项研究中，我们证明MTDH基因多态性与IDC风险增加之间存在显著关联.此外，我们的研究结果表明,MTDH基因多态性可作为IDC亚型分型和治疗选择的潜在生物标志物.
