PROJECT 3: DEFINING THE SPECTRUM OF SPONDYLOARTHRITIS IN FAMILY MEMBERS

这个子项目是许多研究子项目中的一个 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。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 为了了解遗传差异和遗传模式在多大程度上影响脊柱关节炎（SpA）的表达，我们将开发和验证患者反应工具，以确定AS先证者受影响的一级亲属（FDR）中SpA表型的谱。我们还将尝试定义特定的主要组织相容性复合体（MHC）的遗传结构的异质性SpA表型的FDRs的先证者AS传统的遗传分析方法和新的设计，使用系统生物学的方法。先证者和FDR都不需要进行首次访问，可以通过邮件完成仪器。将要求约125名FDR前往研究中心进行第二次访视（100名支持SpA症状，25名不支持），以进行抽血、病历审查和体格检查。FDR也只有在审查其医疗记录和体格检查后，怀疑其症状为SpA时才进行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.