SELECT SLE CANDIDATE GENES IN AFRICAN AMERICANS

选择非裔美国人中的 SLE 候选基因

• 批准号: 8359792
• 负责人: KENNETH M KAUFMAN
• 金额: $ 21.72万
• 依托单位: OKLAHOMA MEDICAL RESEARCH FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-05-01 至 2012-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8359792
• 关键词: African; African American; American; Asians; Autoimmunity; Bioinformatics; Candidate Disease Gene; Chromosomes, Human, Pair 16; DNA; Ethnic group; Etiology; European; FCGR2A gene; Female; Funding; Genes; Genetic; Genotype; Goals; Grant; Hispanics; ITGAM gene; Individual; Lupus; Maps; Molecular; National Center for Research Resources; PTPN22 gene; Patients; Play; Population; Predisposition; Principal Investigator; Race; Research; Research Infrastructure; Resources; Role; STAT4 gene; Source; Systemic Lupus Erythematosus; TYK2; United States National Institutes of Health; cost; cost effective; genome wide association study

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.

该子项目是利用资源的众多研究子项目之一 由 NIH/NCRR 资助的中心拨款提供。子项目的主要支持 并且子项目的主要研究者可能是由其他来源提供的， 包括其他 NIH 来源。 子项目可能列出的总成本 代表子项目使用的中心基础设施的估计数量， NCRR 赠款不直接向子项目或子项目工作人员提供资金。 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 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。 不仅先前的关联得到了证实，而且还确定了许多新的关联（ITGAM、KIAA1542、PXK 和 BLK）。 然而，目前尚不清楚相同、不同或额外的基因是否在其他种族群体中发挥作用，这些种族通常患有更严重的狼疮，例如非洲人、西班牙人或亚洲人后裔。 为了更全面地了解种族群体之间的异同，我们对非裔美国人和欧洲裔美国人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，我们采用了 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裔美国人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。