SELECT SLE CANDIDATE GENES IN AFRICAN-AMERICANS

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。 系统性红斑狼疮的病因包括环境因素和遗传因素。与狼疮易感性相关的基因有FCGR2A、PTPN22、STAT4、TYK2和IRF5。最近，两项针对欧美女性狼疮患者的全基因组关联研究已经完成。不仅确认了以前的关联，而且发现了一些新的关联(ITGAM、KIAA1542、PXK和BLK)。然而，目前尚不清楚是否相同、不同或额外的基因在其他民族中发挥了作用，这些民族通常有更严重的狼疮形式，如非洲人、西班牙裔或亚洲人后裔。 为了更充分地了解种族群体之间的异同，我们对非洲裔美国人和欧洲裔美国人群体进行了全基因组关联研究。为了以更具成本效益的方式高效地完成这些研究，并减少生物信息负担，我们使用了DNA池方法。位于16号染色体上的一个基因被发现，在欧洲裔美国人和非洲裔美国人的研究中都显示出关联。个体基因分型已经证实了这些结果。这项研究的目标是进一步复制和精细绘制在这些种族群体中观察到的关联，并确定导致狼疮易感性的潜在功能。

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. The etiology of Systemic lupus erythematosus involves both environmental and genetic components. A number of genes have been associated with susceptibility to lupus including FCGR2A, PTPN22, STAT4, TYK2 and IRF5. Recently, two whole genome association studies have been completed on European-American female lupus patients. Not only was previous associations confirmed, but a number of new associations were identified (ITGAM, KIAA1542, PXK and BLK). However, it remains unclear if the same, different or additional genes play a role in other ethnic groups, that usually have a more sever form of lupus, such as those of African, Hispanic or Asian descent. In order to more fully understand the similarities and differences between ethnic groups we have performed whole genome association studies on both African-American and European-American populations. To accomplish these studies efficiently, in a more cost effective manner and with a reduction in the bioinformatic burden, we utilized a DNA pooling approach. A gene located on chromosome 16 was identified that showed association in both the European-American and African-American studies. Individual genotyping has confirmed these results. The goal of this study is to further replicate and fine-map the association observed in these racial groups and also identify a potential function that leads to lupus susceptibility.