Kong Jinyu, Xu Fangxiu, Qu Jinli, Wang Yu, Gao Ming, Yu Herbert, Qian Biyun
Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center of Cancer, Tianjin, China.
Department of Cancer Epigenetics Laboratory, First Affiliated Hospital of Henan University of Science and Technology, Luoyang, China.
Oncotarget. 2015 Feb 10;6(4):2573-82. doi: 10.18632/oncotarget.2951.
Studies have suggested that vitamin D may have protective effects against cancer development or tumor progression. To search for additional evidence, we investigated the role of genetic polymorphisms involved in the vitamin D pathway in non-small cell lung cancer (NSCLC). We evaluated common genetic polymorphisms associated with the vitamin D pathway in relation to NSCLC in a case-control study of 603 newly diagnosed NSCLC patients and 661 matched healthy controls. Seven single nucleotide polymorphisms (SNPs) were genotyped, the expression of CYP27B1 and CYP24A1 were measured in 153 tumor samples and their associations with genotypes and patient survival were also analyzed. In the case-control comparison, we found SNP rs3782130 (CYP27B1), rs7041 (GC), rs6068816 and rs4809957 (CYP24A1) associated with NSCLC risk. The risk of NSCLC was increased with the number of risk alleles. CYP27B1 and CYP24A1 expression were significantly different between tumor and normal tissues in NSCLC. High CYP27B1 expression was associated with better overall survival, and the expression was different by the rs3782130 genotype. The study suggests that some genetic polymorphisms involved in the vitamin D pathway may associate with NSCLC risk, and one of the polymorphisms (rs3782130) may affect gene expression and patient survival.
研究表明，维生素D可能对癌症发生或肿瘤进展具有保护作用。为了寻找更多证据，我们研究了维生素D途径中基因多态性在非小细胞肺癌（NSCLC）中的作用。在一项针对603例新诊断的NSCLC患者和661例匹配的健康对照的病例对照研究中，我们评估了与维生素D途径相关的常见基因多态性与NSCLC的关系。对7个单核苷酸多态性（SNP）进行了基因分型，在153个肿瘤样本中测量了CYP27B1和CYP24A1的表达，并分析了它们与基因型和患者生存的关联。在病例对照比较中，我们发现SNP rs3782130（CYP27B1）、rs7041（GC）、rs6068816和rs4809957（CYP24A1）与NSCLC风险相关。NSCLC风险随风险等位基因数量的增加而增加。NSCLC肿瘤组织和正常组织中CYP27B1和CYP24A1的表达存在显著差异。CYP27B1高表达与更好的总生存期相关，且该表达因rs3782130基因型而异。该研究表明，维生素D途径中一些基因多态性可能与NSCLC风险相关，其中一种多态性（rs3782130）可能影响基因表达和患者生存。
