SELECT SLE CANDIDATE GENES IN AFRICAN-AMERICANS

选择非裔美国人中的 SLE 候选基因

• 批准号: 8168260
• 负责人: KENNETH M KAUFMAN
• 金额: $ 22.81万
• 依托单位: OKLAHOMA MEDICAL RESEARCH FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-05-01 至 2011-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8168260
• 关键词: African; African American; American; Asians; Bioinformatics; Candidate Disease Gene; Chromosomes, Human, Pair 16; Computer Retrieval of Information on Scientific Projects Database; DNA; Ethnic group; Etiology; European; FCGR2A gene; Female; Funding; Genes; Genetic; Genotype; Goals; Grant; Hispanics; ITGAM gene; Individual; Institution; Lupus; Maps; PTPN22 gene; Patients; Play; Population; Predisposition; Race; Research; Research Personnel; Resources; Role; STAT4 gene; Source; Systemic Lupus Erythematosus; TYK2; United States National Institutes of Health; 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. 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.

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， 因此可以在其他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。