Genetic Studies of POAG in Ghana, West Africa

描述（由申请人提供）：原发性开角型青光眼（POAG）是生活在美国的非裔美国人致盲的主要原因。在这个患者群体中，它的患病率是美国白人的4-6倍，临床上更严重，更容易导致失明。这项研究的目的是确定这种复杂遗传疾病的遗传基础。有了这些重要的信息，未来的诊断、治疗和可能的预防方法将得到阐明。POAG非常普遍，是西非致盲的主要原因。居住在美国的非洲裔美国人有很大一部分来自西非。西非人群中POAG的遗传学研究与美国正在进行的类似研究相比有几个优势。青光眼在西非非常普遍，POAG是主要形式。西非的家庭规模更大，流动性更强。这些品质极大地帮助识别和定位符合研究标准的家庭和家庭成员。疾病表型通常更为严重，至少部分原因是卫生保健服务的短缺。因此，有多个患病成员的家庭更为常见，这是任何基因研究的关键因素。最后，西非的人口比美国和其他地方的相似人口更加同质。很少有人口移民到加纳或西非，因此减少了遗传混合。基因混合在美国和其他地方很常见。这是非常重要的，因为更大的遗传同质性增加了检测和确定遗传疾病遗传来源的能力。本研究的具体目的是：1)筛选西非加纳的青光眼患者群体，并确定150对与POAG不一致的同胞对；2)创建西非POAG临床和DNA关联数据集，以评估POAG当前和未来的候选基因座。将使用SNP和基因测序策略筛选区域内显示关联的候选基因。该建议创建的临床和遗传数据集将对该人群青光眼的未来研究具有宝贵的价值。该数据集也可作为基因连锁数据集的基础，用于全基因组筛选，以在这一重要群体中发现新的候选基因和位点。

DESCRIPTION (provided by applicant): Primary Open Angle Glaucoma (POAG) is the leading cause of blindness among African Americans living in the United States. Within this patient population, it has a prevalence that is 4-6 times greater, clinically more severe, and more likely to lead to blindness than in white Americans. The objective of this research is to determine the genetic basis of this complex inherited disease. With this vital information, future methods of diagnosis, treatment and possible prevention will be elucidated. POAG is highly prevalent and is a leading cause of blindness in West Africa. A large portion of the African American population living in the United States has its origins in West Africa. The study of genetics of POAG in the West African population offers several advantages to similar studies being conducted in the United States. Glaucoma is highly prevalent in West Africa and POAG is the dominant form. Families are larger in West Africa are mobile. These qualities greatly assist identifying and then locating families and family members that meet study criteria. Disease phenotype is generally more severe, at least in part due to shortages in health care delivery. Therefore, families with multiple affected members are more common, a critical element for any genetic study. Finally, the populations on West Africa are more homogeneous than similar populations in the U.S. and elsewhere. There has been very little population emigration to Ghana or West Africa thus resulting in reduced genetic admixture. Genetic admixture is very common in the U.S. and elsewhere. This is very important since greater genetic homogeneity increases the power to detect and identify genetic sources of inherited diseases. The specific aims of this study are to 1) screen glaucoma patient populations in Ghana, West Africa and identify 150 discordant sib pairs with POAG and 2) create a West African POAG clinical and DNA association dataset to evaluate current and future candidate loci for POAG. Candidate genes within regions that demonstrate association will be screened using SNP and gene sequencing strategies. The clinical and genetic dataset created by proposal will be invaluable for future investigations of glaucoma in this population. This dataset can also serve as a foundation for genetic linkage dataset for genome-wide screen to identify new candidate genes and loci in this important population.