完善非综合征性口颌面裂的遗传和基因组结构-猫眼课题宝

完善非综合征性口颌面裂的遗传和基因组结构

批准号：

10549841

负责人：

Azeez Butali

金额：

$63.37万

依托单位：

UNIVERSITY OF IOWA

依托单位国家：

美国

项目类别：

财政年份：

2020

资助国家：

美国

项目状态：

未结题

起止时间：

2020-02-01 至 2025-01-31

来源：

https://reporter.nih.gov/project-details/10549841

关键词：

Adult Affect Affinity Africa Africa South of the Sahara African African ancestry Alkanesulfonates Alleles Architecture Asian ancestry Bilateral Binding Biological Birth Canada Candidate Disease Gene Caring Cell Line Cells Child Chromatin Cleft Palate Cleft lip with or without cleft palate Code Collaborations Craniofacial Abnormalities Data Disease Education Embryo Embryonic Development Engineering Enhancers Environmental Risk Factor Enzymes Ethanol Etiology Europe European Family Folic Acid Gene Frequency Genes Genetic Genetic Risk Genetic study Genomics Genotype Goals HepG2 Hepatocyte Immigration Individual Infant Infrastructure Iowa Knowledge Lead Link Liver MSX1 gene Measures Medical Meta-Analysis Metabolism Minor Modification Mutation National Human Genome Research Institute Nigerian Outcome Parents Pathogenesis Pathway interactions Patients Persons Phenotype Population Predictive Factor Prevention Publishing Reporter Reporting Research Risk Role Single Nucleotide Polymorphism Societies Specificity Steroids Testing Tissues Translating United States Universities Untranslated RNA Variant Vitamin D Work Zebrafish candidate identification cell type chromatin immunoprecipitation cleft lip and palate clinical practice cost craniofacial development de novo mutation design effective intervention genetic variant genome sequencing genome wide association study genome-wide genome-wide analysis high risk in vitro Assay insight multi-ethnic multi-racial novel orofacial cleft proband promoter psychologic rare variant risk variant transcription factor transmission process whole genome

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中文摘要

翻译

项目总结这项研究的重点是确定有意义的遗传和基因组因素来预测唇裂非洲人口中家庭的结果，将研究结果转化为其他人口，以便设计策略，以减少中电的后果和预防。我们计划复制应用172个基因分型检测1000例CL/P、400例CP和2000例正常对照的非洲GWA型显著基因座单核苷酸多态。我们还计划对300个人进行全基因组测序三联症(先证者伴双侧完全性唇腭裂)和全基因组分析 150个CL/P三联体的测序数据。最后，我们计划确定功能系统检测最强SNPs的GWA型非编码变异的后果疾病协会。这项研究将由爱荷华大学的布塔利博士与他合作领导与爱荷华大学的康奈尔博士、默里博士和曹博士、NHGRI的Adeyemo博士和约翰·霍普金斯大学的陶布博士。

英文摘要

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.

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