Molecular Oncology Group-CI, Portuguese Institute of Oncology, Porto, Portugal.
PLoS One. 2012;7(6):e39236. doi: 10.1371/journal.pone.0039236. Epub 2012 Jun 29.
Few biomarkers are available to predict prostate cancer risk. Single nucleotide polymorphisms (SNPs) tend to have weak individual effects but, in combination, they have stronger predictive value. Adipokine pathways have been implicated in the pathogenesis. We used a candidate pathway approach to investigate 29 functional SNPs in key genes from relevant adipokine pathways in a sample of 1006 men eligible for prostate biopsy. We used stepwise multivariate logistic regression and bootstrapping to develop a multilocus genetic risk score by weighting each risk SNP empirically based on its association with disease. Seven common functional polymorphisms were associated with overall and high-grade prostate cancer (Gleason≥7), whereas three variants were associated with high metastatic-risk prostate cancer (PSA≥20 ng/mL and/or Gleason≥8). The addition of genetic variants to age and PSA improved the predictive accuracy for overall and high-grade prostate cancer, using either the area under the receiver-operating characteristics curves (P<0.02), the net reclassification improvement (P<0.001) and integrated discrimination improvement (P<0.001) measures. These results suggest that functional polymorphisms in adipokine pathways may act individually and cumulatively to affect risk and severity of prostate cancer, supporting the influence of adipokine pathways in the pathogenesis of prostate cancer. Use of such adipokine multilocus genetic risk score can enhance the predictive value of PSA and age in estimating absolute risk, which supports further evaluation of its clinical significance.
目前用于预测前列腺癌风险的生物标志物较少。单核苷酸多态性(SNP)通常具有较弱的个体效应,但组合起来具有更强的预测价值。脂肪因子途径与发病机制有关。我们在 1006 名有资格进行前列腺活检的男性样本中,使用候选途径方法研究了相关脂肪因子途径中关键基因的 29 个功能 SNP。我们使用逐步多变量逻辑回归和引导法,根据每个风险 SNP 与疾病的关联,通过经验加权为每个风险 SNP 开发多基因遗传风险评分。七个常见的功能 SNP 与总体和高级别前列腺癌(Gleason≥7)相关,而三个变体与高转移性风险前列腺癌(PSA≥20ng/mL 和/或 Gleason≥8)相关。遗传变异与年龄和 PSA 的加入提高了总体和高级别前列腺癌的预测准确性,使用接受者操作特征曲线下面积(AUC;P<0.02)、净重新分类改善(NRI;P<0.001)和综合鉴别改善(IDI;P<0.001)指标。这些结果表明,脂肪因子途径中的功能 SNP 可能单独和累积作用,影响前列腺癌的风险和严重程度,支持脂肪因子途径在前列腺癌发病机制中的影响。使用这种脂肪因子多基因遗传风险评分可以增强 PSA 和年龄在估计绝对风险中的预测价值,这支持进一步评估其临床意义。