Primary Open Angle African-American Glaucoma Genetics (POAAGG)

POAAGG项目概要/摘要 青光眼是世界范围内不可逆失明的主要原因， 七千万人。 到2000年，220万美国人被诊断患有青光眼， 预计到2020年将达到340万。原发性开角型青光眼（POAG）是一种 导致视力丧失的疾病谱，与进行性和不可逆性相关 视网膜神经细胞的退化。原发性开角型青光眼在亚洲人群中的患病率为3%， 在70岁及以上的非洲血统人群中，白人占6%，非洲血统人群占16%。 开角型青光眼在非裔美国人中出现早近10年，进展更快 (AAs)使其成为该人群中不可逆失明的主要原因。遗传学 然而，POAG遗传学是复杂的，许多风险 因素都参与其中。这项建议代表了第一次大规模的人口研究， 评估AA的遗传风险因素。 为了检查原发性开角型青光眼危险因素的AA，全基因组关联研究（GWAS）将 被执行。GWAS是一种在大群体中检测遗传变异的方法， 确定是否有任何变异与疾病或性状相关。拟议的GWAS将 在17,000例AA、2,000例POAG和15,000例对照中生成这些变体的数据。 这 实验方法将确定与AAs中POAG相关的基因， 患有更严重的这种疾病。许多不同的临床特征与 POAG，并调查这种诊断的临床决定因素将与遗传 数据与在其他人群中探索这种方法的其他机构合作 将用于进一步增强数据集。 除了GWAS，负责编码蛋白质的DNA部分将被 特别检查，由于异常蛋白质与疾病易感性相关， 进展和严重程度。POAG的遗传风险因素已在其他研究中确定。 人口。这些已知风险因素的相关性，沿着出现的新风险因素 从拟议的GWAS调查，将评估非洲血统的美国人。 原发性开角型非裔美国人青光眼遗传学研究的最终目标 （POAAGG）是为了促进合理的，有针对性的筛查，诊断和 最终成为AA POAG的新治疗方法。

POAAGG Project Summary/Abstract Glaucoma is the leading cause of irreversible blindness worldwide, affecting approximately 70 million people. By 2000, 2.2 million Americans had been diagnosed with glaucoma, and this number is estimated to reach 3.4 million by 2020. Primary open angle glaucoma (POAG) is a spectrum of disease causing vision loss which is associated with progressive and irreversible degeneration of nerve cells in the retina. The prevalence of POAG is 3% among those of Asian ancestry, 6% among Caucasians, and 16% among those of African ancestry age 70 and older. POAG appears almost 10 years earlier and progresses more quickly in African Americans (AAs), making it the leading cause of irreversible blindness in this population. Genetics are known to play a role in this disease~ however, POAG genetics are complex, and many risk factors are involved. This proposal represents the first large population study specifically evaluating AAs for genetic risk factors. In order to examine AAs for POAG risk factors, a genome wide association study (GWAS) will be performed. GWAS is a method that detects genetic variants in a large population to determine if any variants are associated with a disease or trait. The proposed GWAS will generate data on these variants in 17,000 AAs, 2,000 with POAG and 15,000 controls. This experimental approach will identify genes associated with POAG in AAs, who disproportionately suffer from more severe forms of this disease. Many different clinical traits are associated with POAG, and investigation of clinical determinants of this diagnosis will be correlated with genetic data. Collaborations with other institutions that have explored this approach in other populations will be used to further enhance the data set. In addition to the GWAS, the portions of DNA responsible for coding proteins will be specifically examined, since abnormal proteins are associated with disease susceptibility, progression, and severity. Genetic risk factors for POAG have been identified in other populations. The relevance of these known risk factors, along with new risk factors that emerge from the proposed GWAS investigation, will be evaluated for Americans of African ancestry. The ultimate goal of the Primary Open Angle African-American Glaucoma Genetics Study (POAAGG) is to facilitate the development of rational, targeted screening, diagnosis and eventually novel treatments for AA POAG.