IMMUNOLOGICAL AND GENETIC ANALYSIS OF AUTOINFLAMMATORY GENES IN FIBROMYALGIA

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 目的：确定纤维肌痛患者是否存在中性粒细胞过度活跃和/或携带新发现的自体炎症基因(派林烯家族)的遗传多态。评估：(1)比较患者中性粒细胞在迁移、侵袭和细胞因子释放试验中对不同刺激的反应。(2)测定5个自体炎症基因外显子的序列，并确定患者及其父母与对照组之间是否存在相同的基因多态性。意义：这是一种常见的综合症(影响美国人口的2%至6%)，主要发生在女性(85%)，没有已知的病因或标准治疗。诊断是通过压痛点检查作出的。如果我们能够证明自体炎症基因的多态是导致疾病的原因，并且中性粒细胞检测可以诊断这种疾病，那么新的治疗方法和诊断程序就可能被设计出来。

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.