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

• Grant number: 18/20628-8
• Support Opportunities: Regular Research Grants
• Start date: February 01, 2021
• End date: January 31, 2024
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Mônica Barbosa de Melo
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated researchers: Augusto Paranhos Junior ; Cristiano Caixetaumbelino ; Jayter Silva de Paula ; José Paulo Cabral de Vasconcellos ; Mauricio Della Paolera ; Niro Kasahara ; Ricardo Yuji Abe ; Rui Barroso Schimiti ; Sebastião Cronemberger ; Vital Paulino Costa
• Associated scholarship(s): 23/00742-9 - 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 PF THE STUDY GROUP", BP.TT; 21/03278-6 - 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 pf the study group, BP.TT

Abstract

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)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

MELO, MONICA B.; ROSA RODRIGUES, THIAGO ADALTON; DE SOUZA, BRUNO BATISTA; BERTOZZO, VICTOR HAIDAR; PEREIRA DE CASTRO, JULIA NICOLIELLO; COSTA, VITAL PAULINO; CABRAL DE VASCONCELLOS, JOSE PAULO. Association of variants in the FOXC1, ATXN2 and TXNRD2 genes with primary open angle glaucoma in a Brazilian population. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, v. 63, n. 7, p. 3-pg., 2022-06-01. (18/20628-8)

ROCHA ARAKI, MANOEL VINICIUS; OIAMORE SILVA, YURI CARVALHO; ROSA RODRIGUES, THIAGO ADALTON; BAJANO, FLAVIA FIALHO; DE SOUZA, BRUNO BATISTA; COSTA, FERNANDO FERREIRA; COSTA, VITAL PAULINO; DE MELO, MONICA BARBOSA; CABRAL DE VASCONCELLOS, JOSE PAULO. Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population. MOLECULAR VISION, v. 28, p. 10-pg., 2022-02-22. (18/20628-8, 10/18353-9)

RODRIGUES, THIAGO ADALTON ROSA; DE SOUZA, BRUNO BATISTA; BERTOZZO, VICTOR DE HAIDAR E; DE CASTRO, JULIA NICOLIELLO PEREIRA; CAMARGO, ANA CAROLINA LIMA; COSTA, FERNANDO FERREIRA; SCHIMITI, RUI BARROSO; COSTA, VITAL PAULINO; DE VASCONCELLOS, JOSE PAULO CABRAL; DE MELO, MONICA BARBOSA. Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort. OPHTHALMIC GENETICS, v. 44, n. 3, p. 7-pg., 2023-03-31. (10/18353-9, 18/20628-8)