Project 1 _IBADAN

这个项目的主要目标是找出主要的遗传因素 非洲血统的人中的POAG。原发性开角型青光眼(POAG)是最常见的 青光眼是世界上常见的青光眼类型，其中90%以上的人是青光眼的原因 撒哈拉以南非洲青光眼患者(SSA)。POAG有复杂的遗传病因，而且 此外，还表现为不成比例地影响非洲人个人的健康差距 下降。在加纳主要的基于人口的研究中，超过6%的人年龄超过 40名患者患有POAG，超过40%的被诊断为POAG的患者在 一只或两只眼睛。这给非洲人带来了巨大的财政和社会负担。人口的数量 散居海外的非洲人也受到了不成比例的影响。在非裔美国人中，流行率 40岁以上POAG的患病率为4%-5%，是同龄人群的四倍多 高加索人。非洲裔美国人患POAG致盲的风险是 对于高加索人来说，这使其成为非洲永久失明的最常见原因 美国人。我们将收集大约6,000名POAG患者和6,000名POAG患者的DNA 与来自非洲多个国家的对照试验相匹配。这些样本将在 Illumina H3非洲定制芯片。将输入数据，并执行全球气候分析。我们还将 使用这些数据来辅助早发性青光眼多个家系的连锁分析， 并进行QTL分析，以确定与治疗相关的任何基因组座位 撒哈拉以南非洲青光眼激光试验的结果。

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.