IBD Gene Mapping by Clinical and Population Subset

按临床和人群亚群划分的 IBD 基因图谱

基本信息

批准号：
10543359
负责人：
Steven R Brant
金额：
$ 52.95万
依托单位：
RUTGERS BIOMEDICAL AND HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-09-30 至 2027-06-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10543359
关键词：
ATAC-seq Admixture African African American African American population Alleles American Caring Cells Centers for Disease Control and Prevention (U.S.)Chromatin Chromosome Mapping Chronic Clinical Complex Crohn&apos s disease Data Data Coordinating Center Diagnosis Digestive System Disorders Disease East Asian Epigenetic Process European Evaluation Financial Hardship Funding Mechanisms Gastrointestinal Diseases Gene Expression Gene Targeting Genes Genetic Genetic Counseling Genetic Diseases Genetic Predisposition to Disease Genetic Research Genetic Risk Genetic Variation Genome Genotype Goals Health Health Services Accessibility Hispanic Immune Immune System Diseases Inflammatory Bowel Diseases International Investigation Knowledge Latinx population Lead Leadership Linkage Disequilibrium Literature Mediating Medical Meta-Analysis Molecular Genetics National Institute of Diabetes and Digestive and Kidney Diseases Outcome Participant Patient Recruitments Patient-Focused Outcomes Patients Phenotype Play Population Positioning Attribute Postoperative Period Prevalence Prevention strategy Preventive measure Quality of Care Recurrence Research Resources Risk Risk Factors Role Sensitivity and Specificity Societies Specialist Structure TNFSF15 gene Ulcerative Colitis Untranslated RNA Variant X Chromosome case control diagnostic algorithm disease phenotype genetic association genetic risk factor genetic variant genome sequencing genome wide association study genome-wide improved insight multiple omics new therapeutic target novel pleiotropism rare variant receptor recruit risk variant sex targeted treatment trait transcriptome transcriptome sequencing treatment disparity treatment planning whole genome

项目摘要

PROJECT SUMMARY Inflammatory bowel disease (IBD), Crohn’s disease (CD) and ulcerative colitis (UC) are complex genetic disorders of the gastrointestinal tract, and a major health burden to patients and society. Multicenter collaborative studies from 6 Genetics Research Centers (GRCs), organized with a Data Coordinating Center (DCC) to form the NIDDK IBD Genetics Consortium (IBDGC) has contributed to tremendous progress in dissecting IBD genetic etiology with identification of over 200 IBD loci by genome wide association studies (GWAS). Our GRC has contributed to all IBDGC studies and has taken roles in IBDGC leadership positions. Our particular GRC focus is uncovering and characterizing the genetic etiology of IBD, and variations in phenotypic expressivity and disease course, in the African-American population. We will continue to recruit and carefully phenotype African-American patients with IBD to maximize power for genetic and phenotype investigations. We will also recruit patients for parallel IBDGC focused studies in the Hispanic/LatinX population. We will expand and refine IBD loci contributing to the genetic risk of IBD in African-Americans by further GWAS, with sex-stratified, and fine-mapping approaches, and evaluate genotype-phenotype associations. We will perform a multiple immune disease association meta-analyses aggregating genome- wide data to maximize power to identify common immune mediated disease loci while also characterizing pleiotropy among the traits evaluated. We will provide critical resources in immune cells isolated from West- Africans and African-Americans and generate gene expression and epigenetic data for colocalization to better define disease causing variants and their effect on gene expression that result in the genetic risks of IBD in the African-American population. Lastly we will continue to participate in all IBDGC activities to maximize the impact of IBD genetics research by this cooperative funding mechanism.

项目摘要炎症性肠病（IBD），克罗恩病（CD）和溃疡性结肠炎（UC）是复杂的遗传胃肠道的疾病，以及对患者和社会的重大健康燃烧。多中心来自6个遗传学研究中心（GRC）的合作研究，由数据协调中心组织（DCC）形成NIDDK IBD遗传联盟（IBDGC）已促进了巨大进步通过基因组广泛关联研究鉴定IBD遗传病因，并鉴定超过200个IBD基因座（GWAS）。我们的GRC已为所有IBDGC研究做出了贡献，并在IBDGC领导职务中扮演了角色。我们特殊的GRC重点是揭示和表征IBD的遗传病因，以及变化非裔美国人人口的表型表达和疾病过程。我们将继续招募和精心的非裔美国人IBD患者，以最大程度地发挥遗传和表型的功率调查。我们还将在西班牙裔/拉丁裔中招募患者进行IBDGC的平行研究人口。我们将扩大和完善IBD基因座，为非裔美国人的IBD遗传风险做出贡献进一步的GWA，采用性别分层和精细映射方法，并评估基因型 - 表型协会。我们将执行汇总基因组的荟萃分析多重免疫疾病关联广泛的数据以最大程度地识别常见的免疫介导的疾病局部，同时也表征评估性状之间的多效性。我们将提供与从西部分离的免疫细胞中的关键资源非洲人和非裔美国人，并产生基因表达和表观遗传数据以共定位为更好地定义引起变异的疾病及其对基因表达的影响，从而导致非裔美国人人口中的IBD。最后，我们将继续参加所有IBDGC活动通过这种合作资金机制最大化IBD遗传学研究的影响。