SELECT SLE CANDIDATE GENES IN AFRICAN AMERICANS

这个子项目是许多利用资源的研究子项目之一 由NIH/NCRR资助的中心拨款提供。子项目的主要支持 而子项目的主要调查员可能是由其他来源提供的， 包括其它NIH来源。 列出的子项目总成本可能 代表子项目使用的中心基础设施的估计数量， 而不是由NCRR赠款提供给子项目或子项目工作人员的直接资金。 系统性红斑狼疮的病因涉及环境和遗传因素。 许多基因与狼疮易感性相关，包括FCGR 2A、PTPN 22、STAT 4、TYK 2和IRF 5。 最近，两个全基因组关联研究已经完成了对欧洲-美国女性狼疮患者。 不仅确认了以前的关联，而且还确定了一些新的关联（ITGAM，KIAA 1542，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种族中发挥作用，这些种族通常具有更严重的狼疮形式，例如非洲，西班牙裔或亚洲血统。 为了更全面地了解种族群体之间的相似性和差异，我们对非洲裔美国人和欧洲裔美国人进行了全基因组关联研究。 为了有效地完成这些研究，以更具成本效益的方式并减少生物信息学负担，我们使用了DNA池方法。 位于16号染色体上的一个基因被鉴定出来，在欧洲-美国和非洲-美国的研究中都显示出相关性。 个体基因分型证实了这些结果。 这项研究的目的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. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. 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.