GENETIC LINKAGE IN LUPUS

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。 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。多期系统性红斑狼疮家系的收集正在进行中。到目前为止，已经收集了200多个家庭，其中30%是非裔美国人(AA)，并接受了全基因组扫描以寻找连锁基因座。系统性红斑狼疮患者在疾病的临床表现方面有相当大的差异，几乎任何器官系统都可能受到影响。关于观察到的临床变异是否由环境影响、SLE基因座的异质性或修饰基因所致，我们知之甚少。在最近的文献中，我们已经在13号染色体上的AA子集上定位了这些家族特有的信号。我们还在一个新的高加索家系集合中证实了与4p16的连锁，并确认了4p16与染色体2、12和19上的区域之间可能的上位性。神经精神性狼疮的进一步特征已经完成，先前的主成分分析正在进行中。几个候选区域和基因的SNP分型工作刚刚完成。

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. In recent publications, we have localized a signal specific to these familes in an AA subset on chromosome 13. We have also confirmed, in a new collection of Caucasian families, linkage to 4p16 and have identified possible epistasis between this and regions on chromosomes 2, 12, and 19. Further characterization of neuropsychiatric lupus has been completed and confirmation of prior principal component analysis is underway. SNP typing has just been completed for several candidate regions and genes.