Guimarães P E M, Fridman C, Gregório S P, Kalil E M, Cristante A F, Teixeira W G J, Rodrigues C J, Costa M C R, Gattaz W F, Barros T E P, Oliveira P S L, Dias-Neto E
Laboratório de Neurociências (LIM27), Instituto de Psiquiatria, Faculdade de Medicina, Universidade de São Paulo, Brazil.
Spinal Cord. 2009 Feb;47(2):171-5. doi: 10.1038/sc.2008.67. Epub 2008 May 27.
Data mining of single nucleotide polymorphisms (SNPs) in gene pathways related to spinal cord injury (SCI).
To identify gene polymorphisms putatively implicated with neuronal damage evolution pathways, potentially useful to SCI study.
Departments of Psychiatry and Orthopedics, Faculdade de Medicina, Universidade de São Paulo, Brazil.
Genes involved with processes related to SCI, such as apoptosis, inflammatory response, axonogenesis, peripheral nervous system development and axon ensheathment, were determined by evaluating the 'Biological Process' annotation of Gene Ontology (GO). Each gene of these pathways was mapped using MapViewer, and gene coordinates were used to identify their polymorphisms in the SNP database. As a proof of concept, the frequency of subset of SNPs, located in four genes (ALOX12, APOE, BDNF and NINJ1) was evaluated in the DNA of a group of 28 SCI patients and 38 individuals with no SC lesions.
We could identify a total of 95,276 SNPs in a set of 588 genes associated with the selected GO terms, including 3912 nucleotide alterations located in coding regions of genes. The five non-synonymous SNPs genotyped in our small group of patients, showed a significant frequency, reinforcing their potential use for the investigation of SCI evolution.
Despite the importance of SNPs in many aspects of gene expression and protein activity, these gene alterations have not been explored in SCI research. Here we describe a set of potentially useful SNPs, some of which could underlie the genetic mechanisms involved in the post trauma spinal cord damage.
对与脊髓损伤（SCI）相关的基因通路中的单核苷酸多态性（SNP）进行数据挖掘。
识别可能与神经元损伤演变通路相关的基因多态性，这可能对脊髓损伤研究有用。
巴西圣保罗大学医学院精神病学和骨科系。
通过评估基因本体论（GO）的“生物过程”注释，确定与脊髓损伤相关过程（如细胞凋亡、炎症反应、轴突生成、外周神经系统发育和轴突包裹）相关的基因。使用MapViewer对这些通路中的每个基因进行定位，并使用基因坐标在SNP数据库中识别它们的多态性。作为概念验证，在一组28例脊髓损伤患者和38例无脊髓损伤的个体的DNA中评估了位于四个基因（ALOX12、APOE、BDNF和NINJ1）中的SNP子集的频率。
我们在一组与选定的GO术语相关的588个基因中总共鉴定出95276个SNP，其中包括位于基因编码区的3912个核苷酸改变。在我们的小患者组中进行基因分型的五个非同义SNP显示出显著频率，加强了它们在脊髓损伤演变研究中的潜在用途。
尽管SNP在基因表达和蛋白质活性的许多方面都很重要，但这些基因改变在脊髓损伤研究中尚未得到探索。在这里，我们描述了一组潜在有用的SNP，其中一些可能是创伤后脊髓损伤所涉及的遗传机制的基础。
