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Genome-wide association study (GWAS) for the identification of variants related to primary open angle glaucoma in a sample of the Brazilian population stage I: composition of the study group


Glaucoma is the leading cause of irreversible blindness worldwide, affecting about 70 million people, with at least 6.8 million people showing bilateral blindness. Increased intraocular pressure (IOP) is the main risk factor for primary open-angle glaucoma (POAG), in addition to other factors that include increased age, black race, and family aggregation. POAG follows a pattern of complex inheritance and the main strategy that has been used for robust identification of variants associated with the disease is Genome-wide Association Studies or GWAS. Several populations have been evaluated through GWAS and several genes associated with glaucoma have been identified. However, few variants in these genes have been replicated in different populations, which reinforce the heterogeneity of this condition and the need for evaluation of other populations not yet studied in a more robust way. Therefore, the present study aims to seek for variants related to the development of POAG through GWAS in a sample of the population from the Southeast of Brazil (2000 patients and 2000 controls). This will be the first study with this approach to be performed in the Brazilian population with POAG. It is expected that the results obtained will reveal new molecular mechanisms involved in the etiology of glaucoma and help to elucidate the genetic basis of this ocular condition. In order to conduct this study the first step is to obtain 2000 patients and 2000 controls. Hence, the aim of this proposal is to obtain financial resources that allow the inclusion of 2500 samples of the study group (collection of blood and/or saliva and DNA extraction). The GWAS will be conducted in collaboration with the Genome Institute of Singapore. (AU)

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