Refining the Genetic and Genomic Architecture of Non‐syndromic Orofacial Clefts
完善非综合征性口颌面裂的遗传和基因组结构
基本信息
- 批准号:10088437
- 负责人:
- 金额:$ 66.12万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2020
- 资助国家:美国
- 起止时间:2020-02-01 至 2025-01-31
- 项目状态:未结题
- 来源:
- 关键词:AdultAffectAffinityAfricaAfrica South of the SaharaAfricanAlkanesulfonatesAllelesArchitectureAsiansBilateralBindingBiologicalBirthCanadaCandidate Disease GeneCaringCell LineCellsChildChromatinCleft PalateCleft lip with or without cleft palateCodeCollaborationsCraniofacial AbnormalitiesDataDiseaseEmbryoEmbryonic DevelopmentEngineeringEnhancersEnvironmental Risk FactorEnzymesEthanolEtiologyEuropeEuropeanFamilyFolic AcidGene FrequencyGenesGeneticGenetic RiskGenetic studyGenomicsGenotypeGoalsHepG2HepatocyteImmigrationIndividualInfantInfrastructureIowaKnowledgeLeadLinkLiverMSX1 geneMeasuresMedicalMeta-AnalysisMetabolismMinorModificationMutationNational Human Genome Research InstituteNigerianOutcomeParentsPathogenesisPathway interactionsPatientsPersonsPhenotypePopulationPredictive FactorPreventionPublishingReporterReportingResearchRiskRoleSingle Nucleotide PolymorphismSocietiesSpecificitySteroidsTestingTissuesTranslatingTriad Acrylic ResinUnited StatesUniversitiesUntranslated RNAVariantVitamin DWorkZebrafishbasecell typechromatin immunoprecipitationcleft lip and palateclinical practicecostcraniofacial developmentde novo mutationdesigneffective interventiongenetic variantgenome sequencinggenome wide association studygenome-widegenome-wide analysishigh riskin vitro Assayinsightmulti-ethnicmulti-racialnovelorofacial cleftprobandpromoterpsychologicrare variantrisk varianttranscription factorwhole genome
项目摘要
PROJECT SUMMARY
The focus of this study is to identify meaningful genetic and genomic factors that predict cleft
outcomes in families in the African population, translate findings to other populations in order to
design strategies towards reducing the outcome and prevention of CLP. We plan to replicate
African GWAS significant loci in 1000 CL/P cases, 400 CP and 2000 controls by genotyping 172
single nucleotide polymorphisms. We also plan to conduct whole genome sequencing of 300
triads (proband with bilateral complete cleft lip and palate) and analyses whole genome
sequencing (WGS) data of 150 CL/P triads. Finally, we plan to determine the functional
consequences of GWAS non-coding variants by systematically testing SNPs with strongest
disease association. This study will be led by Dr Butali at the University of Iowa in collaboration
with Dr Cornell, Dr Murray and Dr Cao at the University of Iowa, Dr Adeyemo at the NHGRI and
Dr Taub at the John Hopkins University.
项目摘要
这项研究的重点是确定有意义的遗传和基因组因素,预测裂
非洲人口家庭的结果,将研究结果转化为其他人口,
设计减少CLP后果和预防的策略。我们计划复制
1000例CL/P病例、400例CP和2000例对照中的非洲GWAS显著位点,通过基因分型172
单核苷酸多态性我们还计划进行300个基因组测序,
三联体(双侧完全性唇腭裂先证者),并分析全基因组
150个CL/P三联体的测序(WGS)数据。最后,我们计划确定函数
GWAS非编码变体的后果,通过系统地测试具有最强
疾病协会。这项研究将由爱荷华州大学的Butali博士领导,
与爱荷华州大学的康奈尔博士、默里博士和曹博士,NHGRI的Adeyemo博士,
约翰霍普金斯大学的陶博博士。
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)
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Azeez Butali其他文献
Azeez Butali的其他文献
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{{ truncateString('Azeez Butali', 18)}}的其他基金
Enhancing Participant Engagement through the Journey of Orofacial Clefts Caregivers
通过口面部裂护理人员的旅程增强参与者的参与度
- 批准号:
10786549 - 财政年份:2023
- 资助金额:
$ 66.12万 - 项目类别:
Mental Health of Mothers of Children with CL/P and Incidental Findings from Whole Genome Sequencing
CL/P 儿童母亲的心理健康状况以及全基因组测序的偶然发现
- 批准号:
10594077 - 财政年份:2022
- 资助金额:
$ 66.12万 - 项目类别:
Whole Genome Sequencing for Orofacial Clefts, Incidental Findings and Role of Community Gatekeepers
口面部裂痕的全基因组测序、偶然发现和社区看门人的作用
- 批准号:
10358751 - 财政年份:2021
- 资助金额:
$ 66.12万 - 项目类别:
Orofacial Clefts, Whole Genome Sequencing and Incidental Findings: Ethical considerations
口面部裂痕、全基因组测序和偶然发现:伦理考虑
- 批准号:
10217501 - 财政年份:2020
- 资助金额:
$ 66.12万 - 项目类别:
Refining the Genetic and Genomic Architecture of Non‐syndromic Orofacial Clefts
完善非综合征性口颌面裂的遗传和基因组结构
- 批准号:
9883613 - 财政年份:2020
- 资助金额:
$ 66.12万 - 项目类别:
Refining the Genetic and Genomic Architecture of Non‐syndromic Orofacial Clefts
完善非综合征性口颌面裂的遗传和基因组结构
- 批准号:
10549841 - 财政年份:2020
- 资助金额:
$ 66.12万 - 项目类别:
Refining the Genetic and Genomic Architecture of Non‐syndromic Orofacial Clefts
完善非综合征性口颌面裂的遗传和基因组结构
- 批准号:
10337034 - 财政年份:2020
- 资助金额:
$ 66.12万 - 项目类别:
Genetic studies of nonsyndromic clefts in populations of African Descent.
非洲人后裔非综合征性裂隙的遗传学研究。
- 批准号:
8733231 - 财政年份:2014
- 资助金额:
$ 66.12万 - 项目类别:
Genetic studies of nonsyndromic clefts in populations of African Descent.
非洲人后裔非综合征性裂隙的遗传学研究。
- 批准号:
8408780 - 财政年份:2012
- 资助金额:
$ 66.12万 - 项目类别:
Genetic studies of nonsyndromic clefts in populations of African Descent.
非洲人后裔非综合征性裂隙的遗传学研究。
- 批准号:
8226612 - 财政年份:2012
- 资助金额:
$ 66.12万 - 项目类别:
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