Genetic variants in lncRNA H19 are associated with the risk of oral squamous cell carcinoma in a Chinese population

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// Zhiyao Yuan 1, * , Yang Yu 1, * , Bo Zhang 1, 2, * , Limin Miao 1 , Lihua Wang 3 , Keke Zhao 1 , Yefeng Ji 1 , Ruixia Wang 1 , Hongxia Ma 3 , Ning Chen 1 and Hua Yuan 1, 2 1 Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, China 2 Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Nanjing Medical University, Nanjing, China 3 Department of Epidemiology and Biostatistics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Cancer Center, School of Public Health, Nanjing Medical University, Nanjing, China * These authors contributed equally to this work Correspondence to: Ning Chen, email: ningchen09@gmail.com Hua Yuan, email: yuanhua@njmu.edu.cn Keywords: lncRNAs; H19; oral squamous cell carcinoma; genetic variants Received: June 14, 2017      Accepted: December 13, 2017      Epub: January 02, 2018      Published: May 08, 2018 ABSTRACT To evaluate whether the genetic variants in H19 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 H19 . 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, P = 0.002; rs2839701: OR = 1.23, 95% CI = 1.04–1.46, P = 0.019].Bioinformatics predicted that rs2839701 C>G might alter the secondary structure of H19 . In addition, rs2839701 C>G inhibited the transcription activity and was correlated with the decreased expression of downstream gene MRPL23-AS1 that was downregulated in OSCC. The current results suggested that the SNPs in H19 may play a major role in genetic susceptibility to OSCC.