Can 9q34.2 rs633862 polymorphism predict survival in epithelial ovarian cancer?
Can 9q34.2 rs633862 polymorphism predict survival in epithelial ovarian cancer?
复制标题
9q34.2 rs633862 多态性可以预测上皮性卵巢癌的生存吗？
作者：
Jiang R;Xu Y;Wang P;Cheng X;Shi T;Zang R
目的 我们之前的全基因组关联研究（GWAS）发现，染色体 9q34.2 中的 ABO rs633862 变异与中国汉族女性患上皮性卵巢癌（EOC）的风险相关。本研究的目的是评估其对 EOC 的预后影响。方法 纳入669例EOC患者进行9q34.2 rs633862变异基因分型。我们使用 Kaplan-Meier 生存曲线、单变量和多变量 Cox 比例风险模型来评估 rs633862 与 EOC 患者总生存 (OS) 的关联。结果 通过使用单变量 Cox 比例风险回归分析，我们发现，与 rs633862 AA 基因型相比，rs633862 变异 AG/GG 基因型与更长的 OS 显着相关（HR = 0.69，95% CI [0.49–0.98]，p = 0.035），尽管在多变量分析中具有板线显着性。在高级别浆液性卵巢癌亚组中也观察到类似的结果。进一步的表达数量性状位点 (eQTL) 分析表明 rs633862 AA 基因型与 ABO mRNA 表达水平升高相关 (p = 1.8 × 10−11)。结论 作为先前 GWAS 的补充，我们的研究为 9q34.2 rs633862 变异在 EOC 患者中的预后价值提供了额外的证据，并且该变异可能通过调节 ABO mRNA 表达而发挥作用。
Objective Our previous genome-wide association study (GWAS) identified that the ABO rs633862 variant in chromosome 9q34.2 was associated with the risk of epithelial ovarian cancer (EOC) in Chinese Han women. The aim of the present study was to evaluate its prognostic effect on EOC. Methods A total of 669 EOC patients were enrolled for the genotyping of rs633862 variant in 9q34.2. We used Kaplan–Meier survival curves, univariate and multivariate Cox proportional hazard models to evaluate the association of rs633862 with overall survival (OS) in EOC patients. Results We found that rs633862 variant AG/GG genotypes were significantly associated with a longer OS by using univariate Cox proportional hazards regression analysis, compared with the rs633862 AA genotype (HR = 0.69, 95% CI [0.49–0.98], p = 0.035), albeit with a boardline significance in the multivariate analysis. Similar findings were observed in the subgroup of high-grade serous ovarian carcinoma. Further expression quantitative trait loci (eQTL) analysis indicated that the rs633862 AA genotype was associated with an increased level of ABO mRNA expression (p = 1.8 × 10−11). Conclusions Supplementary to the previous GWAS, our study provides additional evidence on the prognostic value of the 9q34.2 rs633862 variant in EOC patients, and this variant may function by regulating the ABO mRNA expression.