IBD Gene Mapping by Clinical and Population Subsets
按临床和人群亚群划分的 IBD 基因图谱
基本信息
- 批准号:7936453
- 负责人:
- 金额:$ 16.4万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2009
- 资助国家:美国
- 起止时间:2009-09-30 至 2011-06-30
- 项目状态:已结题
- 来源:
- 关键词:13qABCB1 geneAdmixtureAfricanAfrican AmericanAlgorithmsAmericanAntibodiesAreaAsiansBehaviorBioinformaticsBiological MarkersCandidate Disease GeneCaucasiansCaucasoid RaceChairpersonCharacteristicsChildChildhoodChromosome MappingClassificationClassification SchemeClinicalClinical DataClinical ManagementCollaborationsCollectionCommunicationCommunity Health CentersComplexCrohn&aposs diseaseDNADataData CollectionDevelopmentDiseaseDisease AssociationDisease PathwayDisease susceptibilityDistrict of ColumbiaEconomic FactorsEnrollmentEnvironmentEnvironmental Risk FactorEuropeanExposure toFutureGastroenterologyGenesGeneticGenetic MarkersGenetic PolymorphismGenetic VariationGenomeHaplotypesHeadHereditary DiseaseHeterogeneityHuman GenomeInfectious AgentInflammationInflammatory Bowel DiseasesJointsKnowledgeLeadLinkage DisequilibriumLocationMapsMeasurementMeasuresMedical centerMethodsModelingMolecularNational Institute of Diabetes and Digestive and Kidney DiseasesNorth AmericaOnset of illnessPathogenesisPatientsPatternPhasePhenotypePlayPopulationPrincipal InvestigatorPuerto RicanQuality ControlQuestionnairesRecruitment ActivityRelative (related person)Research PersonnelResolutionResourcesRiskRoleSamplingSerumSeveritiesSeverity of illnessSmokingStatistical ModelsSusceptibility GeneSymptomsTestingUlcerative ColitisVariantWorkbasecase controlclinical Diagnosisclinically relevantcohortdisorder riskdisorder subtypeearly onsetfollow-upgene interactiongenetic variantgenome wide association studyinfancylymphoblastoid cell linemicroorganism antigennon-geneticnovelnutritionprogramsrepositorytrait
项目摘要
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.
描述(由申请人提供):炎症性肠病(IBD),克罗恩病和溃疡性结肠炎,是一种复杂的遗传性疾病,具有遗传和环境原因。疾病基因的分布因种族血统而异。尽管北美有大量的非裔美国人(AA)IBD人群,但相对于白色甚至亚洲人群,该人群中遗传原因的确定仅处于起步阶段。我们已经建立了最大的AA IBD病例队列(目前有258例确诊病例)和种族匹配的对照组。这些已被纳入NIDDK IBD遗传学联盟库,以广泛用于未来的遗传学研究。我们还分析了AA人群中IBD的表型,并确定其表型模式与白色人群中IBD的表型模式显著不同。然而,我们也发现AA中的IBD通常是家族性的,这表明像白色人群一样,存在潜在的易感基因。我们发现,与白人不同,NOD 2在AAs中引起克罗恩病方面并不起重要作用。然而,我们已经复制了IBD 5-OCTN 1/2单倍型的重要作用。正如预测的那样,AA人群的连锁不平衡(LD)大大降低,表明AA患者的IBD基因定位可能会在高LD区域实现更有限的分辨率。此外,我们发现了独特的NOD 2多态性,这表明AA人群中更大的遗传多样性可能会提供更多的知识,导致人类基因组中的疾病变异。我们现在建议到第5年将AA队列扩大到800例病例和匹配对照。与DCC财团合作,我们将在第四年进行全基因组关联研究,以确定IBD基因。我们还将招募AA IBD复制人群,以确认GWA研究的遗传结果。我们将使用更大的人群来确定独特的非洲祖先NOD 2变异的意义,进一步减少IBD 5单倍型,确定IBD 3连锁的原因并减少其单倍型,并测试相关性,并确定独特的非洲祖先变异的任何候选基因中确定的白色人口由我们的NIDDK财团合作者。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
Steven R Brant其他文献
Steven R Brant的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ truncateString('Steven R Brant', 18)}}的其他基金
IBD Gene Mapping by Clinical and Population Subset
按临床和人群亚群划分的 IBD 基因图谱
- 批准号:
10707288 - 财政年份:2022
- 资助金额:
$ 16.4万 - 项目类别:
IBD Gene Mapping by Clinical and Population Subset
按临床和人群亚群划分的 IBD 基因图谱
- 批准号:
10543359 - 财政年份:2022
- 资助金额:
$ 16.4万 - 项目类别:
Identifying Disease Variants for Familial Crohns Disease
识别家族性克罗恩病的疾病变异
- 批准号:
7644243 - 财政年份:2009
- 资助金额:
$ 16.4万 - 项目类别:
Identifying Disease Variants for Familial Crohns Disease
识别家族性克罗恩病的疾病变异
- 批准号:
7942992 - 财政年份:2009
- 资助金额:
$ 16.4万 - 项目类别:
GENETIC STUDIES OF CROHN'S DISEASE AND ULCERATIVE COLITIS
克罗恩病和溃疡性结肠炎的遗传学研究
- 批准号:
7378775 - 财政年份:2005
- 资助金额:
$ 16.4万 - 项目类别:
GENETIC STUDIES OF CROHN'S DISEASE AND ULCERATIVE COLITIS
克罗恩病和溃疡性结肠炎的遗传学研究
- 批准号:
7200668 - 财政年份:2005
- 资助金额:
$ 16.4万 - 项目类别:
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 - 财政年份:2002
- 资助金额:
$ 16.4万 - 项目类别:
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:
7500267 - 财政年份:2002
- 资助金额:
$ 16.4万 - 项目类别:
IBD Gene Mapping by Clinical and Population Subset
按临床和人群亚群划分的 IBD 基因图谱
- 批准号:
9146335 - 财政年份:2002
- 资助金额:
$ 16.4万 - 项目类别:
IBD Gene Mapping by Clinical and Population Subset
按临床和人群亚群划分的 IBD 基因图谱
- 批准号:
9402477 - 财政年份:2002
- 资助金额:
$ 16.4万 - 项目类别:
相似海外基金
Resistance to paclitaxel in triple negative breast cancer cells is associated with ABCB1 gene rearrangement
三阴性乳腺癌细胞对紫杉醇的耐药性与 ABCB1 基因重排有关
- 批准号:
315555 - 财政年份:2014
- 资助金额:
$ 16.4万 - 项目类别: