Project 1 _IBADAN

项目1_IBADAN

• 批准号: 9386951
• 负责人: Adeyinka O Ashaye
• 金额: $ 48.83万
• 依托单位: COLLEGE OF MEDICINE, UNIVERSITY OF IBADAN
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/9386951
• 关键词: Address; Affect; Africa; Africa South of the Sahara; African; African American; Age; Architecture; Asians; Bioinformatics; Biological Markers; Blindness; Caucasians; Clinic; Clinical; Clinical Treatment; Complex; Country; Custom; DNA; Data; Data Set; Diagnosis; Enrollment; European; Eye; Family; Ganglion Cell Layer; Genes; Genetic; Genetic Predisposition to Disease; Genomics; Genotype; Ghana; Glaucoma; Goals; Individual; Lasers; Measurement; Medical; Optic Disk; Patients; Persons; Physiologic Intraocular Pressure; Population; Population Study; Prevalence; Primary Open Angle Glaucoma; Publishing; Quantitative Trait Loci; Reporting; Risk; Role; Sampling; Severity of illness; Site; Subgroup; Technology; Thick; Time; Trabeculectomy; Treatment outcome; base; biobank; blind; case control; clinically actionable; cost; density; early onset; follow-up; genetic analysis; genetic association; genetic linkage analysis; genetic signature; genetic variant; genome wide association study; genome-wide; health disparity; outreach; predicting response; response; retinal nerve fiber layer; risk variant; tomography; treatment response; treatment trial

The primary goal of this project is to identify major genetic factors that are responsible for POAG in persons of African ancestry. Primary open angle glaucoma (POAG) is the most common type of glaucoma in the world, and is the cause of glaucoma in over 90% of those living with glaucoma in Sub Saharan Africa (SSA). POAG has a complex genetic etiology, and moreover manifests as a health disparity that disproportionately affects individuals of African descent. In major population-based studies in Ghana, more than 6% of those over the age of 40 were affected with POAG, and more than 40% of patients diagnosed with POAG are blind in one or both eyes. This places a huge financial and societal burden on Africans. Populations of the African diaspora are also disproportionately affected. In African Americans, the prevalence of POAG is 4-5% over the age of 40, which is over four fold higher than in age-matched Caucasians. The risk of blindness from POAG is 10 times greater for African Americans than for Caucasians, making it the most common cause of permanent blindness in African Americans. We will collect DNA from approximately 6,000 individuals with POAG and 6,000 matched controls from multiple countries in Africa. These samples will be genotyped on the Illumina H3Africa custom chip. Data will be imputed and GWAS will be performed. We will also use this data to assist in the linkage analysis of multiplex families with early-onset glaucoma, and to conduct QTL analyses to identify any genomic loci that are associated with treatment outcome in the Sub Saharan Africa Glaucoma Laser Trial.

该项目的主要目标是确定导致 POAG 存在于非洲血统的人中。原发性开角型青光眼（POAG）是最常见的 世界上常见的青光眼类型，是 90% 以上青光眼的病因 生活在撒哈拉以南非洲 (SSA) 的青光眼患者。 POAG 具有复杂的遗传病因， 此外，还表现为健康差异，对非洲人的影响尤为严重 血统。在加纳以人口为基础的主要研究中，超过 6% 的人年龄超过 40 名 POAG 患者，超过 40% 的 POAG 患者失明 一只或两只眼睛。这给非洲人带来了巨大的经济和社会负担。人口 散居海外的非洲人也受到不成比例的影响。在非裔美国人中，患病率 40岁以上，POAG的发生率为4-5%，是同龄人的四倍多 白种人。非裔美国人因 POAG 失明的风险是非裔美国人的 10 倍 对于白种人来说，它是非洲人永久失明的最常见原因 美国人。我们将从大约 6,000 名 POAG 患者和 6,000 名 来自非洲多个国家的匹配控制。这些样本将被进行基因分型 Illumina H3Africa 定制芯片。将估算数据并执行 GWAS。我们还将 使用这些数据来协助多重家族与早发性青光眼的关联分析， 并进行 QTL 分析，以确定与治疗相关的任何基因组位点 撒哈拉以南非洲青光眼激光试验的结果。