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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 全身性红斑狼疮的病因涉及环境和遗传成分。 许多基因与狼疮的易感性有关，包括FCGR2A，PTPN22，STAT4，TYK2和IRF5。 最近，对欧美女性狼疮患者进行了两项整个基因组协会研究。 不仅证实了以前的关联，而且确定了许多新关联（ITGAM，KIAA1542，PXK和BLK）。 但是，目前尚不清楚是否相同，不同或其他基因在其他种族群体中起作用，而这些族裔通常具有更严重的狼疮，例如非洲，西班牙裔或亚洲血统的狼疮。 为了更充分地了解种族之间的相似性和差异，我们对非裔美国人和欧美人口进行了整个基因组关联研究。 为了以更具成本效益的方式有效地完成这些研究，并减轻了生物信息负担，我们采用了DNA合并方法。 鉴定出位于16号染色体上的基因，该基因在欧美和非裔美国人研究中均显示出相关性。 个体基因分型已经证实了这些结果。 这项研究的目的是进一步复制和仔细地图在这些种族群体中观察到的关联，并确定导致狼疮敏感性的潜在功能。