NeuroTexas Institute, St. David's Medical Center, Austin, Texas 78705, USA.
Neurosurg Focus. 2010 Jan;28(1):E2. doi: 10.3171/2010.10.FOCUS09186.
As their power and utility increase, genome-wide association (GWA) studies are poised to become an important element of the neurosurgeon's toolkit for diagnosing and treating disease. In this paper, the authors review recent findings and discuss issues associated with gathering and analyzing GWA data for the study of neurological diseases and disorders, including those of neurosurgical importance. Their goal is to provide neurosurgeons and other clinicians with a better understanding of the practical and theoretical issues associated with this line of research. A modern GWA study involves testing hundreds of thousands of genetic markers across an entire genome, often in thousands of individuals, for any significant association with a particular disease. The number of markers assayed in a study presents several practical and theoretical issues that must be considered when planning the study. Genome-wide association studies show great promise in our understanding of the genes underlying common neurological diseases and disorders, as well as in leading to a new generation of genetic tests for clinicians.
随着其功能和实用性的增强,全基因组关联(GWA)研究有望成为神经外科医生诊断和治疗疾病的工具包中的一个重要组成部分。在本文中,作者回顾了最近的发现,并讨论了与为研究神经疾病和障碍(包括神经外科重要疾病)而收集和分析 GWA 数据相关的问题。他们的目标是为神经外科医生和其他临床医生提供对与这一研究领域相关的实际和理论问题的更好理解。一项现代的 GWA 研究通常涉及在数千名个体中测试整个基因组中数十万遗传标记,以寻找与特定疾病的任何显著关联。在研究中检测的标记数量提出了几个实际和理论问题,在计划研究时必须考虑这些问题。全基因组关联研究为我们理解常见神经疾病和障碍的基因基础,以及为临床医生提供新一代遗传测试,展示了巨大的前景。