Using the BITOLA system to identify candidate genes for Parkinson's disease.
Using the BITOLA system to identify candidate genes for Parkinson's disease.
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DOI：
10.17305/bjbms.2011.2572
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发表时间：
2011-08
影响因子：
3.4
通讯作者：
Amela Karić;Alen Karić
中科院分区：
文献类型：
--
作者：
Amela Karić;Alen Karić
帕金森病（PD）等多因素疾病的复杂性，使定位克隆和候选基因分析等传统方法识别致病遗传因素变得复杂。PD是一种病因和遗传复杂的疾病，是仅次于阿尔茨海默病的第二常见的神经退行性疾病。大多数PD病例是特发性的，少数个体以单基因缺陷为病因。本研究的主要目的是利用生物医学发现支持系统（BITOLA）识别特发性帕金森病的潜在候选基因。利用开放系统的生物信息学工具BITOLA检测PD潜在候选基因。染色体定位、潜在候选基因的组织特异性表达及其与PD的潜在关联数据通过Medline、Locus Link、Gene Cards和OMIM获得。通过BITOLA系统鉴定出17个PD潜在候选基因。三个基因（MAPT, PARK2, UCHL1）在PD中的作用较早得到证实。利用特别提到的生物信息学工具BITOLA发现新的多因素疾病候选基因，可以为不使用患者组织样本研究PD的遗传基础提供新的机会。
Complexity of multifactorial diseases as Parkinson's disease (PD) often complicate identifying causal genetic factors by traditional approaches such as positional cloning and candidate gene analyses. PD is etiologically and genetically complex disease and second most common neurodegenerative disorder after Alzheimer's disease. The most cases of PD are idiopathic and small growing subset of individuals have single gene defect as the cause. The main goal of this research was to identify the potential candidate genes for idiopathic PD by using biomedical discovery support system (BITOLA). For detecting the potential candidate genes for PD was used opened system of bioinformatics tool BITOLA. Data of chromosome location, tissue specific expression of potential candidate genes and their potential association with PD were obtained from Medline, Locus Link, Gene Cards and OMIM. By using BITOLA system is identified 17 genes as potential candidate genes for PD. The role of three genes (MAPT, PARK2, UCHL1) in PD were confirmed earlier. Discovering the novel candidate genes for multifactiorial diseases by using specially mentioned bioinformatics tool BITOLA could offer the new opportunity for researching genetics base of PD without using tissue samples of patients.