Genomic variations as risk factors for the development and progression of endometriosis

• Grant number: 14/07136-8
• Support Opportunities: Scholarships abroad - Research Internship - Doctorate
• Start date: July 03, 2014
• End date: June 02, 2015
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Denise Maria Christofolini
• Grantee: Fernanda Abani Mafra
• Supervisor: Hakon Hakonarson
• Host Institution: Faculdade de Medicina do ABC (FMABC). Organização Social de Saúde. Fundação do ABC. Santo André , SP, Brazil
• Institution abroad: Children's Hospital of Philadelphia (CHOP), United States
• Associated to the scholarship: 12/22394-8 - Genomic Variation as risk factor for the development and progression of endometriosis, BP.DR

Abstract

Endometriosis is a common, chronic, inflammatory and estrogen dependent gynecological disease that develops as a consequence of a combination of genetic predisposition and environmental factors. Recently, several studies have revealed a great number of genetic markers related to the immune, neuroendocrine and reproductive functions and gene interactions, pointing to associations between the development of endometriosis and genetic polymorphisms.Genome wide association studies (GWASs) have been performed successfully in the discovery of new genomic regions that are associated with multifactorial diseases. Unfortunately, GWAS are very costly due to the price of genotyping individual DNA samples on high-density SNP arrays. One way to reduce the cost is to undertake quantitative analyses of allele frequencies in DNA pools, a process often referred to as 'DNA pooling'.The objective of this study is to identify copy number variation (CNV) and SNPs in genes associated with the development of endometriosis in infertile patients compared with their incidence in healthy controls, generating knowledge about the genetic causes of the disease and allowing the discovery of biomarkers that can identify patients who have an increased risk of disease progression, increased risk of infertility and for the identification of patients who may benefit from the medical and surgical treatment. (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)

MAFRA, FERNANDA; MAZZOTTI, DIEGO; PELLEGRINO, RENATA; BIANCO, BIANCA; BARBOSA, CAIO PARENTE; HAKONARSON, HAKON; CHRISTOFOLINI, DENISE. Copy number variation analysis reveals additional variants contributing to endometriosis development. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, v. 34, n. 1, p. 117-124, JAN 2017. (14/07136-8, 12/22394-8)

CHRISTOFOLINI, DENISE MARIA; MAFRA, FERNANDA ABANI; CATTO, MICHELLE CRISTINA; BIANCO, BIANCA; BARBOSA, CAIO PARENTE. New candidate genes associated to endometriosis. Gynecological Endocrinology, v. 35, n. 1, p. 62-65, JAN 2 2019. (14/07136-8, 12/22394-8)