Genetic variants of lncRNA HOTAIR contribute to the risk of osteosarcoma

// Quan Zhou 1,* , Fengli Chen 2,* , Zhongting Fei 3 , Jiali Zhao 1 , Yong Liang 4 , Wei Pan 1 , Xingxiang Liu 3 and Donghui Zheng 4 1 Department of Orthopaedics, Huai’an Hospital Affiliated of Xuzhou Medical College and Huai’an Second Hospital, Huai’an, Jiangsu, China 2 Department of Central Laboratory, Huai’an First People’s Hospital, Nanjing Medical University, Huai’an, Jiangsu, China 3 Department of Clinical Laboratory, Huai’an 4th people’s Hospital, Huai’an, Jiangsu, China 4 Department of Central Laboratory and Department of Nephrology, Huai’an Hospital Affiliated of Xuzhou Medical College and Huai’an Second Hospital, Huai’an, Jiangsu, China * These authors have contributed equally to this work Correspondence to: Donghui Zheng, email: // Xingxiang Liu, email: // Keywords : osteosarcoma, susceptibility, variant, lncRNA, HOTAIR Received : October 07, 2015 Accepted : January 24, 2016 Published : March 07, 2016 Abstract Osteosarcoma (OS) is the most common primary malignant bone tumor in adolescents and young adults. However, the essential mechanisms underlying osteosarcomagenesis remain obscure. The HOTAIR, a well-known long noncoding RNA (lncRNA), is involved in pathogenesis and progress of multiple tumors. To reveal the potential role of lncRNA HOTAIR in OS carcinogenesis, we conducted a two-stage, case-control study among Chinese population with 900 OS cases and 900 controls to evaluated associations of its genetic variants with OS risk. We found that C allele of rs7958904 was associated with a significantly decreased OS risk when compared with G allele (OR: 0.77; 95% CI: 0.67-0.90; P = 6.77×10-4). Functional analyses on HOTAIR Expression showed that the expression level of HOTAIR in OS tissues was significantly higher than that in corresponding normal tissues, and subjects with the rs7958904 CC genotype had significantly lower HOTAIR RNA levels than those of other genotypes. This should be the first study to examine the association between HOTAIR variants and OS risk.