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RTEL1 and TERT polymorphisms are associated with astrocytoma risk in the Chinese Han population
Authors:Tian-Bo Jin  Jia-Yi Zhang  Gang Li  Shu-Li Du  Ting-Ting Geng  Jing Gao  Qian-Ping Liu  Guo-Dong Gao  Long-Li Kang  Chao Chen  Shan-Qu Li
Affiliation:1. School of Life Sciences, Northwest University, Xi’an, 710069, China
2. National Engineering Research Center for Miniaturized Detection Systems, Xi’an, 710069, China
3. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi, 712082, China
4. Department of Neurosurgery, Tangdu Hospital, The Fourth Military Medical University, Xi’an, 710038, China
6. Mailbox 386, #229 North Taibai Road, Xi’an, 710069, Shaanxi, China
5. Medical Center of Tangdu Hospital, The Fourth Military Medical University, Xi’an, 710038, China
7. No. 569 Xinsi Road, Xi’an, 710038, Shaanxi, China
Abstract:Common variants of multiple genes play a role in glioma onset. However, research related to astrocytoma, the most common primary brain neoplasm, is rare. In this study, we chose 21 tagging SNPs (tSNPs), previously reported to be associated with glioma risk in a Chinese case–control study from Xi’an, China, and identified their contributions to astrocytoma susceptibility. We found an association with astrocytoma susceptibility for two tSNPs (rs6010620 and rs2853676) in two different genes: regulator of telomere elongation helicase 1 (RTEL1) and telomerase reverse transcriptase (TERT), respectively. We confirmed our results using recessive, dominant, and additive models. In the recessive model, we found two tSNPs (rs2297440 and rs6010620) associated with increased astrocytoma risk. In the dominant model, we found that rs2853676 was associated with increased astrocytoma risk. In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk. Our results demonstrate, for the first time, the potential roles of RTEL1 and TERT in astrocytoma development.
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