Genetic Studies of POAG in Ghana, West Africa

西非加纳的 POAG 遗传学研究

基本信息

批准号：
6927876
负责人：
Robert RAND ALLINGHAM
金额：
$ 15.4万
依托单位：
DUKE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2003
资助国家：
美国
起止时间：
2003-09-30 至 2007-08-31
项目状态：
已结题

项目摘要

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.

描述（由申请人提供）：主要的开放角度青光眼（POAG）是居住在美国的非裔美国人失明的主要原因。在该患者人群中，与白人美国人相比，它的患病率高4-6倍，在临床上更严重，更有可能导致失明。这项研究的目的是确定这种复杂遗传疾病的遗传基础。有了这些重要信息，将阐明未来的诊断，治疗和可能预防方法。 POAG非常普遍，是西非失明的主要原因。居住在美国的大部分非裔美国人人口起源于西非。西非人口中POAG遗传学的研究为在美国进行的类似研究提供了一些优势。青光眼在西非高度普遍，POAG是主要形式。西非的家庭更大。这些品质大大帮助识别符合学习标准的家庭和家庭成员。疾病表型通常更为严重，至少部分是由于医疗保健提供的短缺。因此，具有多个受影响成员的家庭更为普遍，这对于任何遗传研究而言是关键因素。最后，西非的人口比美国和其他地方的类似人口更为统一。人们的人口很少移民到加纳或西非，从而导致遗传混合减少。遗传混合在美国和其他地方非常普遍。这非常重要，因为更大的遗传同质性会增加检测和识别遗传疾病的遗传来源的能力。这项研究的具体目的是1）西非加纳的筛查青光眼患者人群，并确定150个与POAG的不一致的同胞对； 2）创建一个西非POAG临床和DNA协会数据集，以评估当前和未来的候选POAG基因座。将使用SNP和基因测序策略筛选区域内的候选基因。提案创建的临床和遗传数据集对于该人群中青光眼的未来研究将是无价的。该数据集还可以作为全基因组筛查的遗传连锁数据集的基础，以识别这一重要人群中的新候选基因和基因座。