IBD Gene Mapping by Clinical and Population Subsets

按临床和人群亚群划分的 IBD 基因图谱

• 批准号: 7123089
• 负责人: Steven R Brant
• 金额: $ 33.81万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-09-30 至 2007-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7123089
• 关键词: African American; MHC class I antigen; biotechnology; clinical research; cooperative study; family genetics; gene expression; gene mutation; genetic mapping; genetic susceptibility; genotype; human population genetics; human subject; inflammatory bowel diseases; linkage disequilibriums; medical outreach /case finding; medically underserved population

DESCRIPTION (provided by applicant): Genetic heterogeneity has been a major obstacle for identifying genes for the complex genetic disorder, inflammatory bowel disease. We have demonstrated that stratified analysis by age at onset and severity can markedly reduce genetic heterogeneity for the IBD1 locus. Further stratified analysis based on clinical and epidemiological covariates may have great power to identify and narrow loci. Despite the large African American population with IBD in North America, no genetic studies have included African Americans, perhaps in part to reduce problems of genetic heterogeneity and inadequate sample availability. African ancestral populations however may have greater power to reduce problems of extensive linkage disequilibrium that has plagued narrowing the IBD 3 and 1BD5 loci. We have developed two proposals that take advantage of the large number of IBD patients to be made available for Genetic Research Centers of the proposed NIH lBD Genetics Research Consortium: (A) Sub-analyses, of present and future genome wide and locus specific linkage data, as based on defined clinical and epidemiological characteristics to identify, confirm and/or refine IBD loci. (B) Recruitment, phenotypic characterization and genotyping of African American IBD patients for locus specific linkage disequilibrium studies in the three loci where linkage disequilibrium has already been identified, IBD1, IBD3 and IBD5. We will perform one of these proposals as directed by the consortium steering committee and in collaboration with other consortium investigators.

描述（由申请人提供）： 遗传异质性一直是鉴定复杂遗传疾病，炎症性肠病的基因的主要障碍。我们已经证明，发病时期按年龄进行分层分析可以显着降低IBD1基因座的遗传异质性。基于临床和流行病学协变量的进一步分层分析可能具有识别和缩小基因座的强大力量。尽管在北美有IBD的非裔美国人人口众多，但没有遗传研究包括非洲裔美国人，也许部分是为了减少遗传异质性问题和样本可用性不足。但是，非洲祖先的人口可能具有更大的能力来减少困扰IBD 3和1BD5基因座的广泛连锁不平衡问题。我们已经开发了两个建议，这些建议利用了大量的IBD患者，可用于拟议的NIH LBD遗传学研究联盟的遗传研究中心：（a）基于定义的临床和流行病学特征的当前和未来基因组范围范围且特定特定的链接数据的子分析，并确认，确认和/或/或/或/或/或/或//或炼油。 （b）非洲裔美国IBD患者在三个基因座中招募，表型表征和基因分型在特定的连锁不平衡研究中，在这些基因座中已经确定了连锁不平衡的IBD1，IBD3和IBD5。我们将按照财团指导委员会指示并与其他财团调查员合作执行这些建议之一。