// Shuwei Li 1, 2, * , Yibing Hua 3, * , Jing Jin 1, 2, * , Haixiao Wang 4 , Mulong Du 1 , Lingjun Zhu 5 , Haiyan Chu 1 , Zhengdong Zhang 1, 2 , Meilin Wang 1, 2 1 Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China 2 Department of Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China 3 Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China 4 Department of General Surgery, Huai-An First People’s Hospital Affiliated to Nanjing Medical University, Huai-an, China 5 Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China * These authors contributed equally to this work Correspondence to: Meilin Wang, e-mail: mwang@njmu.edu.cn Keywords: long noncoding RNA, H19, colorectal cancer, genetic variation, susceptibility Received: January 29, 2016 Accepted: March 10, 2016 Published: March 24, 2016 ABSTRACT Objective: The long non-coding RNA (lncRNA) gene, H19 , has been involving in multiple biological functions, which also plays a vital role in colorectal cancer carcinogenesis. However, the association between genetic variants in H19 and colorectal cancer susceptibility has not been reported. In this study, we aim to explore whether H19 polymorphisms are related to the susceptibility of colorectal cancer. Methods: We conducted a case-control study to evaluate the association between four selected single nucleotide polymorphisms (SNPs) (rs2839698, rs3024270, rs217727, and rs2735971) in H19 and the risk of colorectal cancer in a Chinese population. Results: We found that individuals with rs2839698 A allele had a significantly increased risk of colorectal cancer, compared to those carrying G allele [odds ratio (OR) = 1.20, 95% confidence interval (CI) = 1.05–1.36 in additive model]. Further stratified analyses revealed that colon tumor site, well differentiated grade and Duke’s stage of C/D were significantly associated with colorectal cancer risk ( P < 0.05). Additionally, bioinformatic analysis showed that rs2839698 may change the crucial folding structures and alter the target microRNAs of H19 . Conclusions: Our results provided the evidence that rs2839698 in H19 was associated with elevated risk of colorectal cancer, which may be a potential biomarker for predicting colorectal cancer susceptibility.
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