PD-1 rs2227982 Polymorphism Is Associated With the Decreased Risk of Breast Cancer in Northwest Chinese Women: A Hospital-Based Observational Study.
PD-1 rs2227982 Polymorphism Is Associated With the Decreased Risk of Breast Cancer in Northwest Chinese Women: A Hospital-Based Observational Study.
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DOI：
10.1097/md.0000000000003760
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发表时间：
2016-05
期刊：
影响因子：
1.6
通讯作者：
Dai ZJ
中科院分区：
文献类型：
--
作者：
Ren HT;Li YM;Wang XJ;Kang HF;Jin TB;Ma XB;Liu XH;Wang M;Liu K;Xu P;Yao QL;Dai ZJ
程序性死亡-1（PD-1）在癌症中至关重要，并且被很好地表征为通过递送抑制信号发挥作用的负性T细胞调节剂。我们的目的是评估PD-1多态性（rs 10204525，rs 2227982和rs7421861）与乳腺癌风险之间的关系。我们从中国西北地区选择了560例乳腺癌患者和583例年龄、性别和种族匹配的健康对照。采用Sequenom MassARRAY对PD-1基因多态性进行基因分型。用比值比（OR）和95%置信区间（95%CI）估计相关性。对于rs 10204525和rs7421861多态性，在任何遗传模型中都没有发现乳腺癌风险的差异。对于rs 2227982多态性，变异基因型与乳腺癌风险降低显著相关（CT vs CC：OR = 0.68，95%CI = 0.52-0.91; CT + TT vs CC：OR = 0.69，95%CI = 0.53-0.90）。 在按年龄分层的分析中，在年轻受试者中观察到风险降低（OR = 0.68，95%CI = 0.47-0.97）。 我们发现观察到的rs 2227982变异基因型的风险降低与Her-2状态相关（CT vs CC：OR = 0.55，95%CI = 0.37-0.84; CT + TT vs CC：OR = 0.56，95%CI = 0.38-0.82）。 单倍型分析显示Ars 10204525 Trs 2227982 Crs 7421861单倍型与乳腺癌风险显著降低相关（OR = 0.50，95%CI = 0.34-0.75）。 我们的研究结果支持PD-1 rs 2227982多态性与乳腺癌风险降低之间存在关联，尤其是在中国人群中Her-2阳性乳腺癌患者中。
Programmed death-1 (PD-1) is crucial in cancer and is well characterized as a negative T-cell regulator that functions by delivering inhibitory signals. We aimed to evaluate the relationship between PD-1 polymorphisms (rs10204525, rs2227982, and rs7421861) and breast cancer risk. We selected 560 breast cancer patients and 583 age-, sex-, and ethnicity-matched healthy controls from Northwest China. The PD-1 polymorphisms were genotyped by using Sequenom MassARRAY. Associations were estimated with odds ratios (ORs) and 95% confidence intervals (95% CIs). For the rs10204525 and rs7421861 polymorphisms, no differences in breast cancer risk were found in any of the genetic models. For the rs2227982 polymorphism, the variant genotypes were significantly associated with decreased breast cancer risk (CT vs CC: OR = 0.68, 95% CI = 0.52–0.91; CT + TT vs CC: OR = 0.69, 95% CI = 0.53–0.90). In analyses stratified by age, the decreased risk was observed among the younger subjects (OR = 0.68, 95% CI = 0.47–0.97). We found that the decreased risk observed for the variant genotypes of rs2227982 was associated with the Her-2 status (CT vs CC: OR = 0.55, 95% CI = 0.37–0.84; CT + TT vs CC: OR = 0.56, 95% CI = 0.38–0.82). The haplotype analysis showed that the Ars10204525 Trs2227982 Crs7421861 haplotype was associated with a significantly decreased risk of breast cancer (OR = 0.50, 95% CI = 0.34–0.75). Our findings support an association between the PD-1 rs2227982 polymorphism and decreased breast cancer risk, especially in Her-2 positive breast cancer patients in the Chinese population.