Project 1 _IBADAN

该项目的主要目标是确定主要的遗传因素，负责 非洲血统的POAG。原发性开角型青光眼（POAG）是最常见的 青光眼是世界上最常见的一种青光眼，是90%以上的青光眼患者的病因。 撒哈拉以南非洲（SSA）的青光眼患者。POAG具有复杂的遗传病因学， 此外，还表现为健康差距，不成比例地影响非洲人的个人， 血统.在加纳进行的主要基于人口的研究中， 40例患有POAG，超过40%的POAG患者是盲人， 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。种群 散居国外非洲人也受到不成比例的影响。在非裔美国人中， 40岁以上的POAG为4-5%，比年龄匹配的POAG高4倍以上。 白种人非裔美国人的POAG致盲风险是非裔美国人的10倍， 对于高加索人来说，这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 与来自非洲多个国家的对照组相匹配。这些样本将在 Illumina H3 Africa定制芯片。将对数据进行插补，并进行GWAS。我们还将 使用该数据来辅助早发性青光眼多重家族的连锁分析， 并进行QTL分析以鉴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。

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.