Genetic and Environmental Risks for Oral Clefts in Puerto Rican Hispanics

波多黎各西班牙裔口腔裂的遗传和环境风险

• 批准号: 10439017
• 负责人: Carmen J. Buxo
• 金额: $ 7.5万
• 依托单位: UNIVERSITY OF PUERTO RICO MED SCIENCES
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-08-01 至 2023-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10439017
• 关键词: Achievement; Address; Administrative Supplement; Affect; Alcohol consumption; Applications Grants; Biological; Biological Markers; Birth; Blood; COVID-19; Candidate Disease Gene; Carbon; Caribbean region; Child; Clinical Data; Clinical Research; Complex; Congenital Abnormality; DNA; Data; Dental Schools; Development Plans; Dietary Practices; Disease; Emergency Situation; Enrollment; Ensure; Environment; Environmental Exposure; Environmental Risk Factor; Etiology; Family; Family member; Folic Acid; Folic Acid Deficiency; Food; Frequencies; Future; Genetic; Genetic Polymorphism; Genetic Predisposition to Disease; Genetic Risk; Genetic Techniques; Genetic Variation; Genetic study; Genotype; Glycosylated hemoglobin A; Goals; Guidelines; Health; Health Services Accessibility; Hispanics; Hurricane; Individual; Infrastructure; Institution; Island; Knowledge; Lead; Leptin; Lipids; Live Birth; Maternal Exposure; Mediating; Medicine; Metabolic Diseases; Metabolic syndrome; Metabolism; Minority Groups; Mitochondria; Modification; Molecular Genetics; Mothers; Nutritional; Participant; Pathogenesis; Pathway interactions; Phase; Phenotype; Pilot Projects; Population; Population Heterogeneity; Pregnancy; Premature Birth; Prevalence; Prevention; Prevention Guidelines; Prevention strategy; Process; Public Health; Public Health Education; Puerto Rican; Puerto Rico; Questionnaires; Recommendation; Reporting; Research; Risk; Risk Factors; Role; Sampling; Sequence Analysis; Smoking; Students; Supplementation; Susceptibility Gene; Three-Dimensional Imaging; Training; Translational Research; Triad Acrylic Resin; Universities; Variant; Vitamin Deficiency; Vitamins; Work; ancestry analysis; career; career development; case control; clinical imaging; craniofacial; cytokine; design; gene environment interaction; genetic analysis; genetic epidemiology; genetic variant; genome wide association study; higher education; improved; multi-ethnic; novel; oral cleft; orofacial cleft; phenotypic data; professor; recruit; research study; tenure track; trait

PROJECT SUMMARY Candidate: Dr. Carmen Buxo is a tenure-track Assistant Professor at the University of Puerto Rico (UPR) School of Dental Medicine. Her career goals are to perform research in craniofacial and genetic epidemiology of oral clefts in multiethnic populations. The research plan uses 3D imaging, molecular genetic techniques and maternal biomarkers to investigate the genetic and environmental etiology of oral clefts in Puerto Ricans to understand these complex traits in a Hispanic population. The study has the potential of identifying relevant candidate genes and variants associated with oral clefts. It will provide new information on the sub-clinical cleft phenotypes of this population and its correlation with significant polymorphisms identified in previous GWAS. Consultants: Consultants will continue to serve as experts in craniofacial genetics, oral clefts phenotypes of different populations, birth defects and preterm birth in Puerto Ricans, analyses of genetics, and maternal nutritional biomarkers. Environment: The UPR is a higher education institution with an established reputation for training graduate and postdoctoral students successfully in the Caribbean, particularly in clinical and translational research. Career Development Plan: Dr. Buxo plans to meet periodically with consultants for the achievement of her career and research goals by continuing to attend to relevant seminars. Research Study: The purpose of this R00 study is to understand the genetic and environmental etiology of oral clefts in a genetically admixed population by identifying the genetic variants and maternal nutritional biomarkers contributing to oral cleft risk in Puerto Rican Hispanics and relate findings to prevention strategies and public health education to reduce the burden of these disorders. R00 will continue recruitment of Aims 1-2, start Aim 3, collect samples for genotyping/sequencing, blood for maternal nutritional biomarkers, phenotype data, maternal questionnaires, analyze samples and maternal exposures. Administrative Supplement: The COVID- 19 emergency has affected the island’s health, access to care and economy. We received an administrative supplement to recover from the impact of Hurricanes Irma and Maria to the infrastructure of new facilities available for the R00’s study implementation and completion. Currently, we are still working in our existing space, which reduces the capability to complete R00 activities adequately, especially during COVID-19 emergency; limiting the working capacity to ensure physical distancing. The COVID-19 lockdown has caused delays to the processes for the alterations and renovations (A & R) requested in previous administrative supplement. The objective of this supplement is to cover for the A&R proposed previously that were affected due to current COVID-19 emergency. This new administrative supplement will allow our Institution to finish the A&R processes for the completion of proposed facilities and R00 activities.

项目摘要 候选人：卡门Buxo博士是终身制助理教授在波多黎各大学（UPR） 牙科医学院。她的职业目标是进行颅面和遗传流行病学研究 多种族人群中的口腔裂。该研究计划使用3D成像，分子遗传技术， 母体生物标志物，以调查波多黎各人口裂的遗传和环境病因， 了解西班牙裔人群的这些复杂特征。这项研究有可能确定相关的 与口裂相关的候选基因和变异体。它将为亚临床裂提供新的信息 表型及其与先前GWAS中鉴定的显著多态性的相关性。 顾问：顾问将继续担任颅面遗传学、口腔裂表型、 不同的人口，出生缺陷和早产的波多黎各人，分析遗传学，和孕产妇 营养生物标志物。环境：普遍定期审议是一个享有盛誉的高等教育机构。 在加勒比成功地培训研究生和博士后学生，特别是在临床和 翻译研究职业发展计划：Buxo博士计划定期与顾问会面， 通过继续参加相关研讨会，实现她的职业和研究目标。研究报告： 这项R 00研究的目的是了解一个国家中唇腭裂的遗传和环境病因。 通过识别遗传变异和母体营养生物标志物， 有助于波多黎各西班牙裔人的唇裂风险，并将研究结果与预防策略和公众 健康教育，以减少这些疾病的负担。R 00将继续招募目标1-2，启动目标 3、采集样本进行基因分型/测序，采集血液进行母体营养生物标志物、表型数据， 产妇问卷调查，分析样本和产妇接触。行政补充：COVID- 19紧急情况影响了该岛的健康，获得护理和经济。我们收到了一份行政 从飓风Irma和Maria的影响中恢复到新设施基础设施的补充 可用于R 00的研究实施和完成。目前，我们仍在现有的 空间，这降低了充分完成R 00活动的能力，特别是在COVID-19期间 紧急情况;限制工作能力，以确保物理距离。COVID-19封锁导致 上一次行政会议所要求的改建和翻修进程出现延误 补充.本补充文件的目的是涵盖之前提议的受影响的A&R 因为当前的COVID-19紧急情况。这一新的行政补充将使我们的机构完成 完成拟议设施和R 00活动的A&R流程。