Utah Population Database: a tool to study the hereditary element of nonsyndromic neurosurgical diseases

作者：Niazi Toba N; Cannon Albright Lisa A; Couldwell William T^*

来源：Neurosurgical Focus, 2010, 28(1).

DOI：10.3171/2009.10.FOCUS09214

• Utah Population Database
• glioma
• relative risk
• intracranial aneurysm
• pituitary adenoma
• genealogical index of familiality

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. (DOI: 10.3171/2009.10.FOCUS09214)

• 出版日期2010-1