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LncRNA CDKN2BAS rs2157719 genetic variant contributes to medulloblastoma predisposition
Authors:Xiao‐Guang Qiu  Jupeng Yuan  Ming Yang
Institution:1. Department of Radiation Oncology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China;2. Shandong Provincial Key Laboratory of Radiation Oncology, Cancer Research Center, Shandong Cancer Hospital affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan, Shandong Province, China
Abstract:

Background

How germline single nucleotide polymorphisms are involved in the etiology of medulloblastoma remans poorly understood. We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome‐wide association studies may contribute to medulloblastoma predisposition.

Methods

To test this hypothesis, we genotyped these genetic variants among 160 medulloblastoma patients and 443 health controls in a Chinese population. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by logistic regression.

Results

We found that only the lncRNA CDKN2BAS rs2157719 T>C genetic polymorphism was significantly associated with an increased medulloblastoma risk (C allele: OR = 1.85, 95% CI = 1.32–2.58; p = 2.7 × 10–4). The stratified analyses showed an elevated risk of pediatric medulloblastoma associated with CDKN2BAS rs2157719 CC or TC genotype (both p < 0.05). Moreover, the association between the CDKN2BAS rs2157719 polymorphism and medulloblastoma risk is more pronounced in males (OR = 2.22, 95% CI = 1.36–3.62; p = 0.001).

Conclusions

The findings of the present study provide important insights into the genetic complexities and predisposition of medulloblastoma in Chinese, especially at the lncRNA germline variation level.
Keywords:CDKN2BAS  genetic polymorphism  glioma  medulloblastoma  susceptibility  long non‐coding RNA  single nucleotide polymorphism
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