Department of Neurosurgery, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
Neurosurg Focus. 2010 Jan;28(1):E1. doi: 10.3171/2009.10.FOCUS09214.
Understanding the genetic alterations that contribute to the development of different disease states is key to the ability to screen and treat patients afflicted with these diseases and may someday enable us to prevent their development. The high degree of morbidity and mortality associated with neurosurgical diseases makes this understanding particularly important. Mechanisms for early diagnosis, followed by appropriate treatment in these patients, could significantly alter the morbidity and mortality rates in patients with neurosurgical diseases. The Utah Population Database (UPDB) is a unique resource that allows population-based analysis of the familial nature of diseases with the identification of high-risk pedigrees and predisposition genes. The UPDB was initially used to study the hereditary element of cancer, but its application is now expanding to include the neurogenomics of neurosurgical diseases. Specifically, the familial and genetic contribution to intracranial aneurysms and nonsyndromic intracranial malignant diseases has been reported in the literature. The UPDB identifies the familial contribution by examining genealogical records that have been linked with clinical, demographic, and diagnostic data compiled in state records. From this information, one can identify possible genetic targets for future therapies.
了解导致不同疾病状态的遗传改变是进行筛查和治疗这些疾病患者的关键，并且有朝一日可能使我们能够预防这些疾病的发生。与神经外科疾病相关的高发病率和死亡率使得这种理解尤为重要。在这些患者中进行早期诊断和随后的适当治疗的机制可能会显著改变神经外科疾病患者的发病率和死亡率。犹他州人群数据库（UPDB）是一个独特的资源，允许对具有高风险家系和易感性基因的疾病的家族性质进行基于人群的分析。UPDB 最初用于研究癌症的遗传因素，但现在其应用范围正在扩大，包括神经外科疾病的神经基因组学。具体来说，文献中已经报道了颅内动脉瘤和非综合征性颅内恶性疾病的家族和遗传贡献。UPDB 通过检查与州记录中汇编的临床、人口统计学和诊断数据相关的系谱记录来确定家族贡献。从这些信息中，可以确定未来治疗的可能遗传靶点。
