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中国汉族人群中BCL2-938C>A基因多态性与胶质瘤风险的关联

Association of BCL2-938C>A genetic polymorphism with glioma risk in Chinese Han population.

作者信息

Li Wei, Qian Chunfa, Wang Linxiong, Teng Hong, Zhang Li

机构信息

Department of Geriatric Neurology, Nanjing Medical University Affiliated to Nanjing Brain Hospital, Nanjing, Jiangsu, 210029, People's Republic of China.

出版信息

Tumour Biol. 2014 Mar;35(3):2259-64. doi: 10.1007/s13277-013-1299-5. Epub 2013 Nov 28.

Abstract

Glioma is the most common type of primary brain malignancy in adults. The anti-apoptotic protein B-cell lymphoma 2 (BCL2) has been implicated in the pathogenesis of glioma. This study aimed to evaluate the potential association between BCL2-938C>A genetic polymorphism and glioma susceptibility. This case-control study was conducted in Chinese Han populations consisting of 248 glioma cases and 252 cancer-free controls. The BCL2-938C>A genetic polymorphism was detected by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and verified using DNA sequencing methods. Our data suggested that the genotype/allele of BCL2-938C>A polymorphism were statistically associated with the increased risk of glioma where the risk of glioma for genotype AA or allele A is significantly higher than wild genotype CC (odds ratio (OR) = 2.23, 95% confidence interval (CI) 1.21-4.10, p = 0.009) or allele C (OR = 1.39, 95% CI 1.06-1.82, p = 0.016), respectively. In addition, the BCL2-938AA genotype was significantly more common in patients with glioblastoma and in patients with grade IV glioma. Our findings indicate that the BCL2-938C>A polymorphism is associated with the susceptibility to glioma in Chinese Han populations and might be used as molecular markers for evaluating glioma risk.

摘要

神经胶质瘤是成人中最常见的原发性脑恶性肿瘤类型。抗凋亡蛋白B细胞淋巴瘤2(BCL2)与神经胶质瘤的发病机制有关。本研究旨在评估BCL2-938C>A基因多态性与神经胶质瘤易感性之间的潜在关联。这项病例对照研究在中国汉族人群中进行,包括248例神经胶质瘤病例和252例无癌对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测BCL2-938C>A基因多态性,并使用DNA测序方法进行验证。我们的数据表明,BCL2-938C>A多态性的基因型/等位基因与神经胶质瘤风险增加在统计学上相关,其中基因型AA或等位基因A的神经胶质瘤风险显著高于野生基因型CC(优势比(OR)=2.23,95%置信区间(CI)1.21-4.10,p=0.009)或等位基因C(OR=1.39,95%CI 1.06-1.82,p=0.016)。此外,BCL2-938AA基因型在胶质母细胞瘤患者和IV级神经胶质瘤患者中显著更常见。我们的研究结果表明,BCL2-938C>A多态性与中国汉族人群的神经胶质瘤易感性相关,可能用作评估神经胶质瘤风险的分子标志物。

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