Genomic-Wide association study (GWAS) of telomeric lengths

• Grant number: 19/24227-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2020
• End date: July 29, 2022
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Leandro Machado Colli
• Grantee: Jamile Leite Citrangulo
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

Telomer is protective structures formed by tandem non-coding repeats of TTAGGGn DNA hexanucleotides associated with complex proteins present at the ends of chromosomes. Telomer's function Is to protect the genome against chromosomal stability. The telomere length reduction is associated with several pathologies, including cancer. Genomic association studies have identified chromosomal regions that influence telomere length in European populations, but there are no studies evaluating the genetic component in telomere length variation in Brazilian or mixed populations. The lack of telomer GWAS in the Brazilian population will limit the application of telomer polygenic score in this country. The aim of this study is to identify chromosomal regions associated with telomere length in the Brazilian population. Through a continuous genomic association study, 1000 healthy Brazilian individuals will have 500,000 SNPs compared to the telomere length measured by qPCR. In addition, the estimated genetic ancestry will be used to evaluate population-specific SNPs with telomere length. It is expected that the study may allow the creation of a polygenic score for telomere length specific to the Brazilian population.