Genetic variants in lncRNA H19 are associated with the risk of oral squamous cell carcinoma in a Chinese population
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Zhiyao Yuan1,*, Yang Yu1,*, Bo Zhang1,2,*, Limin Miao1, Lihua Wang3, Keke Zhao1, Yefeng Ji1, Ruixia Wang1, Hongxia Ma3, Ning Chen1 and Hua Yuan1,2
1Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, China
2Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Nanjing Medical University, Nanjing, China
3Department 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
Ning Chen, email: email@example.com
Hua Yuan, email: firstname.lastname@example.org
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
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.
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