按临床和人群亚群划分的 IBD 基因图谱-猫眼课题宝

按临床和人群亚群划分的 IBD 基因图谱

批准号：

7936453

负责人：

Steven R Brant

金额：

$16.4万

依托单位：

JOHNS HOPKINS UNIVERSITY

依托单位国家：

美国

项目类别：

财政年份：

2009

资助国家：

美国

项目状态：

已结题

起止时间：

2009-09-30 至 2011-06-30

来源：

https://reporter.nih.gov/project-details/7936453

关键词：

13q ABCB1 gene Admixture African African American Algorithms American Antibodies Area Asians Behavior Bioinformatics Biological Markers Candidate Disease Gene Caucasians Caucasoid Race Chairperson Characteristics Child Childhood Chromosome Mapping Classification Classification Scheme Clinical Clinical Data Clinical Management Collaborations Collection Communication Community Health Centers Complex Crohn&apos s disease DNA Data Data Collection Development Disease Disease Association Disease Pathway Disease susceptibility District of Columbia Economic Factors Enrollment Environment Environmental Risk Factor European Exposure to Future Gastroenterology Genes Genetic Genetic Markers Genetic Polymorphism Genetic Variation Genome Haplotypes Head Hereditary Disease Heterogeneity Human Genome Infectious Agent Inflammation Inflammatory Bowel Diseases Joints Knowledge Lead Linkage Disequilibrium Location Maps Measurement Measures Medical center Methods Modeling Molecular National Institute of Diabetes and Digestive and Kidney Diseases North America Onset of illness Pathogenesis Patients Pattern Phase Phenotype Play Population Principal Investigator Puerto Rican Quality Control Questionnaires Recruitment Activity Relative (related person)Research Personnel Resolution Resources Risk Role Sampling Serum Severities Severity of illness Smoking Statistical Models Susceptibility Gene Symptoms Testing Ulcerative Colitis Variant Work base case control clinical Diagnosis clinically relevant cohort disorder risk disorder subtype early onset follow-up gene interaction genetic variant genome wide association study infancy lymphoblastoid cell line microorganism antigen non-genetic novel nutrition programs repository trait

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DESCRIPTION (provided by applicant): Inflammatory bowel disease (IBD), Crohn's disease and ulcerative colitis, is a complex genetic disorder with both genetic and environmental causes. The distribution of disease genes varies by ethnic ancestry. Despite the large African American (AA) population with IBD in North America, determination of genetic causes in this population is only in its infancy relative to that of white and even Asian populations. We have developed the largest cohort of AA IBD cases (presently 258 confirmed cases) and ethnically matched controls. These have been enrolled into the NIDDK IBD Genetics Consortium Repository for broad use in future genetic studies. We have also analyzed the phenotype of IBD in the AA population and determined that the phenotype pattern is significantly different from that of IBD in the white population. However, we also found that IBD among AAs is frequently familial, suggesting that like the white population, there are underlying susceptibility genes. We found that unlike whites, NOD2 does not play a significant role in causing Crohn's disease in AAs. However we have replicated a significant role for the IBD5-OCTN1/2 haplotype. As predicted, linkage disequilibrium (LD) was greatly reduced for the AA population, suggesting that the IBD gene mapping in AA patients may allow more finite resolution in areas of high LD. Also, we found unique NOD2 polymorphisms suggesting that the greater genetic diversity within the AA population may provide greater knowledge of disease causing variations in the human genome. We now propose to enlarge the AA cohort to 800 cases and matched controls by year 5. Working with the consortiums DCC, we will perform a whole genome association study in Year 4, to identify IBD genes. We will also recruit an AA IBD replication population to confirm genetic findings from the GWA studies. We will use the larger population to determine the significance of unique African ancestral NOD2 variants, further reduce the IBD5 haplotype, determine the cause of IBD3 linkage and reduce its haplotype and test for association and identify unique African ancestral variants for any candidate genes identified in the white population by our NIDDK consortium collaborators.

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