PROJECT 3: DEFINING THE SPECTRUM OF SPONDYLOARTHRITIS IN FAMILY MEMBERS

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。 为了了解遗传差异和遗传方式在多大程度上影响脊柱关节炎(SpA)的表达，我们将开发并验证一种患者反应工具，以确定AS先证者受影响的一级亲属(FDR)的SpA表型谱。我们还将尝试通过传统的遗传分析方法和使用系统生物学方法的新设计来定义AS先证者FDR中SpA表型异质性的特定主要组织相容性复合体(MHC)遗传结构。先证者和罗斯福都不需要来参加他们的第一次探视，他们可以通过邮寄完成这项工具。大约125名FDR将被要求到研究地点进行第二次访问(100名支持SpA症状的人，25名不支持SPA症状的人)，进行抽血、审查他们的医疗记录和体检。只有在审查了他们的医疗记录和体检后，他们的症状被怀疑为水疗中心时，FDR才会进行X光检查。

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. In order to understand to what extent genetic differences and mode of inheritance influence the expression of spondyloarthritis (SpA), we will develop and validate a patient response instrument to identify the spectrum of SpA phenotypes among affected first degree relatives (FDRs) of probands with AS. We will also try to define the specific major histocompatability complex (MHC) genetic architecture of the heterogeneity of SpA phenotypes in the FDRs of probands with AS by traditional genetic analysis methods and novel designs using a systems biology approach. Both probands and FDRs are not required to come in for their first visit and can complete the instrument via mail. Approximately 125 FDRs will be asked to come to the study site for a second visit (100 who endorsed SpA symptoms and 25 who did not) for blood draw, review of their medical records, and physical examination. FDRs will also have radiographs performed only if, upon review of their medical records and physical examination, their symptoms are suspect for SpA.