Although primary brain tumors (PBTs) are generally considered to be a multifactorial disorder, understanding the genetic basis and etiology of the disease is essential for PBT risk assessment. Understanding of the genetic susceptibility for PBT has come from studies of rare genetic syndromes, linkage analysis, family aggregation, early-onset pediatric cases, and mutagen sensitivity. There are currently no effective markers to assess biological dose of exposures and genetic heterogeneity. The priorities recently recommended by the Brain Tumor Epidemiology Consortium emphasized the need for expanding research in genetics and molecular epidemiology. In this article, we review the literature to identify molecular epidemiologic case-control studies of PBTs that were hypothesis-driven and focused on four hypothesized candidate pathways: DNA repair, cell cycle, metabolism, and inflammation. We summarize the results in terms of genetic associations of single nucleotide polymorphisms of these pathways. We also discuss future research directions based on available evidence and technologies, and conclude that high resolution whole genome approach with significantly large sample size could rapidly advance our understanding of the genetic etiology of PBTs. Literature searches were done on PubMed in March 2009 with the terms glioma, glioblastoma, brain tumor, association, and polymorphism, and we only reviewed English language publications.

中文翻译：

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原发性脑肿瘤的分子流行病学。


尽管原发性脑肿瘤 (PBT) 通常被认为是一种多因素疾病，但了解该疾病的遗传基础和病因对于 PBT 风险评估至关重要。对 PBT 遗传易感性的了解来自对罕见遗传综合征、连锁分析、家族聚集、早发儿科病例和诱变剂敏感性的研究。目前尚无有效的标记物来评估暴露的生物剂量和遗传异质性。脑肿瘤流行病学联盟最近推荐的优先事项强调了扩大遗传学和分子流行病学研究的必要性。在本文中，我们回顾了文献，以确定 PBT 的分子流行病学病例对照研究，这些研究是假设驱动的，重点关注四个假设的候选途径：DNA 修复、细胞周期、代谢和炎症。我们根据这些途径的单核苷酸多态性的遗传关联总结了结果。我们还根据现有证据和技术讨论了未来的研究方向，并得出结论，具有大样本量的高分辨率全基因组方法可以迅速增进我们对 PBT 遗传病因学的理解。 2009 年 3 月，我们在 PubMed 上以神经胶质瘤、胶质母细胞瘤、脑肿瘤、关联性和多态性等术语进行了文献检索，并且我们仅回顾了英文出版物。