IMMUNOLOGICAL AND GENETIC ANALYSIS OF AUTOINFLAMMATORY GENES IN FIBROMYALGIA

该子项目是利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得主要资金， 因此可以在其他CRISP条目中表示。列出的机构是 中心，不一定是研究者的机构。 目的：以确定纤维肌痛患者是否具有过度活跃的中性粒细胞和/或携带新发现的自身炎症基因（芘家族）的遗传多态性。 评估：（1）在迁移、侵袭和细胞因子释放测定中比较患者中性粒细胞与对照对各种刺激的反应。 (2)对五个自身炎症基因的外显子进行测序，并确定患者及其父母与对照组之间是否存在多态性。 重要性：这是一种常见的综合征（影响2 - 6%的美国人口），主要发生在女性（85%）中，没有已知的病因或标准治疗。 诊断是在压痛点检查。 如果我们能证明自身炎症基因的多态性是致病的，并且中性粒细胞检测可以诊断这种疾病，那么就可以设计出新的治疗方法和诊断程序。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Purpose: to determine if patients with fibromyalgia have hyperactive neutrophils and/or carry genetic polymorphisms in newly discovered autoinflammatory genes (pyringene family). Assessment: (1) Compare response of patient neutrophils vs controls to various stimuli in migration, invasion, and cytokine release assays. (2) Sequence exons of five autoinflammatory genes and determine if polymorphisms are shared among patients and their parents vs control. Significance: this is a common syndrome (affecting 2 to 6% of the US population) predominantly in females (85%) that has no known cause or standard treatment. The diagnosis is made on tender point examination. If we can demonstrate that polymorphisms in autoinflammatory genes are causative and that neutrophil assays can diagnose the disease, new treatments an diagnostic procedures could be devised.