骨关节疾病遗传学,佛罗伦萨,意大利,2002年2月22-23日。

Arthritis Research Pub Date : 2002-01-01 Epub Date: 2002-07-30 DOI:10.1186/ar590
Alberto Falchetti
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引用次数: 6

摘要

骨质疏松症(OP)和骨关节炎(OA)是两种最常见的与年龄有关的关节和骨骼慢性疾病,是大多数发达国家的一个主要公共卫生问题。它们受环境因素的影响,并表现出强烈的遗传成分。大规模的人口研究清楚地显示出它们之间的反比关系;因此,对这两种疾病之一的遗传基础的准确分析可能为另一种疾病提供感兴趣的数据。OP和OA的风险和保护基因的发现有望彻底改变诊断和治疗这些疾病的策略。本次研讨会的主要目标是将从事OP和OA研究的科学家和临床医生聚集在一起,以确定未来十年最有希望和合作的方法。这次会议强调了适当的遗传方法对几个研究领域的重要性:寻找新易感性的遗传决定因素,优化先前获得的数据;建立基因多态性与功能变异之间的相关性,以及基因与基因和基因与环境之间的相互作用(特别是基因与营养物质之间的相互作用)。在确定家族性OP表型定义的更多选择性标准方面,适当的遗传方法也是必不可少的,以便获得更均匀和统计上强有力的基于家庭的研究。研讨会最后对DNA微阵列技术在鉴定新的候选基因、开发蛋白质组学和生物信息学分析以及设计低成本临床试验方面提供的未来前景进行了有趣的概述。
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Genetics of osteoarticular disorders, Florence, Italy, 22-23 February 2002.

Osteoporosis (OP) and osteoarthritis (OA), the two most common age-related chronic disorders of articular joints and skeleton, represent a major public health problem in most developed countries. They are influenced by environmental factors and exhibit a strong genetic component. Large population studies clearly show their inverse relationship; therefore, an accurate analysis of the genetic bases of one of these two diseases may provide data of interest for the other disorder. The discovery of risk and protective genes for OP and OA promises to revolutionize strategies for diagnosing and treating these disorders. The primary goal of this symposium was to bring together scientists and clinicians working on OP and OA in order to identify the most promising and collaborative approaches for the coming decade. This meeting put into focus the importance of an adequate genetic approach to several areas of research: the search for the genetic determinants underlying new susceptibilities, the optimization of previously acquired data; the establishment of correlations between genetic polymorphism and functional variants, and gene-gene and gene-environment interactions (particularly those between genes and nutrients). An adequate genetic approach is also essential with regard to determining more selective criteria for phenotypic definition of familial OP, in order to obtain more homogeneous and statistically powerful family-based studies. The symposium concluded with an interesting overview of the future perspectives offered by DNA microarray technologies for identifying novel candidate genes, for developing proteomics and bioinformatics analyses and for designing low-cost clinical trials.

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