Yuan Zhiyao, Yu Yang, Zhang Bo, Miao Limin, Wang Lihua, Zhao Keke, Ji Yefeng, Wang Ruixia, Ma Hongxia, Chen Ning, Yuan Hua
Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, China.
Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Nanjing Medical University, Nanjing, China.
Oncotarget. 2018 Jan 2;9(35):23915-23922. doi: 10.18632/oncotarget.23673. eCollection 2018 May 8.
To evaluate whether the genetic variants in influence the risk of oral squamous cell carcinoma (OSCC) in a Chinese population, a case-control study was conducted to analyze four functional single nucleotide polymorphisms (SNPs) in . The cohort comprised of 444 OSCC cases and 984 healthy controls, and the study further evaluated the biological effect by bioinformatics prediction and functional experiments. Two SNPs, rs217727 and rs2839701, were found to be associated with the risk of OSCC [rs217727: odds ratio (OR) = 1.32, 95% confidence interval (CI) = 1.11-1.58, = 0.002; rs2839701: OR = 1.23, 95% CI = 1.04-1.46, = 0.019].Bioinformatics predicted that rs2839701 C>G might alter the secondary structure of . In addition, rs2839701 C>G inhibited the transcription activity and was correlated with the decreased expression of downstream gene that was downregulated in OSCC. The current results suggested that the SNPs in H19 may play a major role in genetic susceptibility to OSCC.
为评估[基因名称]中的基因变异是否影响中国人群口腔鳞状细胞癌（OSCC）的发病风险，开展了一项病例对照研究，分析[基因名称]中的四个功能性单核苷酸多态性（SNP）。该队列包括444例OSCC病例和984例健康对照，研究进一步通过生物信息学预测和功能实验评估其生物学效应。发现两个SNP，rs217727和rs2839701，与OSCC风险相关[rs217727：比值比（OR）=1.32，95%置信区间（CI）=1.11 - 1.58，P = 0.002；rs2839701：OR = 1.23，95%CI = 1.04 - 1.46，P = 0.019]。生物信息学预测rs2839701 C>G可能改变[基因名称]的二级结构。此外，rs2839701 C>G抑制转录活性，并与OSCC中下调的下游基因[基因名称]的表达降低相关。目前的结果表明，H19中的SNP可能在OSCC的遗传易感性中起主要作用。
