Genome-wide association study identifies four SNPs associated with response to platinum-based neoadjuvant chemotherapy for cervical cancer.
Genome-wide association study identifies four SNPs associated with response to platinum-based neoadjuvant chemotherapy for cervical cancer.
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全基因组关联研究确定了与宫颈癌铂类新辅助化疗反应相关的四个 SNP
DOI：
10.1038/srep41103
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发表时间：
2017-01-25
影响因子：
4.6
通讯作者：
Ma D
中科院分区：
文献类型：
--
作者：
Li X;Huang K;Zhang Q;Zhou J;Sun H;Tang F;Zhou H;Hu T;Wang S;Jia Y;Yang R;Chen Y;Cheng X;Lv W;Wu L;Xing H;Wang L;Zhou S;Yao Y;Wang X;Suolang Q;Shen J;Xi L;Hu J;Wang H;Chen G;Gao Q;Xie X;Wang S;Li S;Ma D
为了确定与宫颈癌患者对新辅助化疗（NACT）反应相关的基因组标志物，我们在中国汉族人群中进行了三阶段全基因组关联研究（GWAS）。本研究共入组了596例IA 2-IIIB期宫颈癌患者。位于4q34.3的一个单核苷酸多态性（SNP）（rs6812281，每个等位基因OR = 2.37，P = 9.0 × 10 - 9）达到GWAS显著性（P< 5.0 × 10 - 8）。另外三个SNP，rs 4590782（10q26.2，P = 1.59 × 10−5，每个等位基因OR = 0.48），rs 1742101（14q32.11，P = 7.11 × 10−6，每个等位基因OR = 0.52），rs 1364121（16q23.3，P = 3.15 × 10−6，每个等位基因OR = 1.98）显示出与新辅助化疗反应相关的强有力证据。携带rs 4590782 C等位基因（CT + CC）的患者5年总生存率（82.9%vs.75.8%，P = 0.083）和5年无瘤生存率（80.8%vs.72.7%，P = 0.021）均高于不携带C等位基因的患者。我们的研究结果有助于描述宫颈癌患者对新辅助化疗反应的遗传病因。
To identify genomic markers associated with the response to neoadjuvant chemotherapy (NACT) in patients with cervical cancer, we performed a three-stage genome-wide association study (GWAS) in the Han Chinese population. A total of 596 patients with stage IA2-IIIB cervical cancer were enrolled in this study. One single nucleotide polymorphism (SNP) (rs6812281, per allele OR = 2.37,P= 9.0 × 10−9) located at 4q34.3 reached GWAS significance (P< 5.0 × 10−8). Another three SNPs, rs4590782 (10q26.2,P= 1.59 × 10−5, per allele OR = 0.48), rs1742101 (14q32.11,P= 7.11 × 10−6, per allele OR = 0.52), and rs1364121 (16q23.3,P= 3.15 × 10−6, per allele OR = 1.98), exhibited strong evidence of associations with response to neoadjuvant chemotherapy. Patients with a C allele (CT + CC) of rs4590782 had better 5-year overall survival rates (82.9% vs. 75.8%,P= 0.083) and 5-year disease-free survival rate (80.8% vs. 72.7%,P= 0.021) than those without a C allele. Our findings help to characterize the genetic etiology of the response to neoadjuvant chemotherapy in patients with cervical cancer.