GENETIC LINKAGE IN LUPUS

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来源获得了主要资金， 因此可在其他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。 系统性红斑狼疮（SLE）是一种自身免疫性疾病，其特征是产生针对细胞内抗原的自身抗体。正在收集多病例SLE家族。到目前为止，已经收集了200多个家庭，其中30%是非洲裔美国人（AA），并进行了全基因组扫描。SLE患者的临床表现有相当大的差异，几乎任何器官系统都可能受到影响。关于所观察到的临床变异性是否是由于环境影响、SLE位点的异质性或修饰基因引起的，目前还知之甚少。 我们对神经精神性狼疮的进一步描述最近已经发表，先前的主成分分析正在进行中。 SNP分型对于几个候选区域和基因是完整的。 我们已经开始了两个与肥胖和SLE之间的关系有关的新项目。 我们已经使用多种方法进行了连锁扫描，以适当地模拟这种潜在的基因与环境的相互作用。 我们还刚刚完成了ACR标准的主成分分析，以及自身免疫特征及其与BMI的关系。

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. Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by the production of auto-antibodies against intracellular antigens. Collection of multicase SLE families is ongoing. Over 200 families, of which 30% are African-American (AA), have been collected to date and subjected to genome-wide scanning for linked loci. There is considerable variability among SLE patients with respect to the clinical manifestations of disease and virtually any organ system may be affected. Little is known about whether the observed clinical variability is due to environmental effects, heterogeneity of SLE loci, or modifying genes. Our further characterization of neuropsychiatric lupus has recently been published and confirmation of prior principal component analysis is underway. SNP typing is complet for several candidate regions and genes. We have begun two new projects related to the relationship between obesity and SLE. We have conducted linkage scans using multiple approaches to properly model this potential gene by environment interaction. We have also just completed a principal component analysis of the ACR criteria, and autoimmunity profiles and their relationship to BMI.