CNV Analysis in Systemic Lupus Erythematosus patients

• Grant number: 13/17062-9
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: February 01, 2014
• End date: July 20, 2017
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Aguinaldo Luiz Simões
• Grantee: Fernanda Bueno Barbosa
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
• Associated scholarship(s): 16/10306-8 - Impact of C4 copy number variation in the susceptibility to systemic lupus erythematosus, BE.EP.DR

Abstract

Advances in molecular-based techniques for DNA investigation enabled the detection of an important type of genomic variation named copy number variations (CNVs). CNVs are defined as genomic segments, usually greater than 1 kb, ranging in copy number when compared to a reference genome. They can contribute to risk variability among individuals in complex diseases etiology. Systemic Lupus Erythematosus (SLE) is an autoimmune disease with strong genetic component characterized by chronic inflammation and autoantibodies production. To date, several loci have been associated with SLE pathogenesis by genome-wide association studies (GWAS). However, there are few analyses about CNVs in SLE patients. Recently, was finished the pilot project to evaluate the CNV distribution in SLE patients, which was the first genome-wide CNVs study of this group in Brazilian population. The aim of this proposal is to continue the study started, including a control group and expanding properly the patient's number. CNV detection will be performed by array Genomic Hybridization Assay, Affymetrix® CytoScan" HD platform. The most relevant will be validated on a larger sample group by real-time PCR. All necessary laboratory infrastructure is available at UNICAMP and the Brazilian Synchrotron Light Laboratory (Campinas, SP), centers which our group has established collaboration. It is hoped that the results of this project will contribute to the understanding of the SLE etiology and allow conclusions transcend the narrow application to SLE, as will be reflected on the broader understanding of the genetic basis of autoimmune phenotypes.

Scientific publications

(4)

(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)

BARBOSA, FERNANDA BUENO; SIMIONI, MILENA; VIEIRA WIEZEL, CLAUDIA EMILIA; TORRES, FABIO ROSSI; MOLCK, MIRIAM COELHO; BONILLA, MELVIN M.; DE ARAUJO, TABIA KAWASAKI; DONADI, EDUARDO ANTONIO; GIL-DA-SILVA-LOPES, VERA LUCIA; LEMOS, BERNARDO; et al. Copy number variation in the susceptibility to systemic lupus erythematosus. PLoS One, v. 13, n. 11, NOV 28 2018. (11/23794-7, 13/17062-9, 16/10306-8)

BARBOSA, FERNANDA B.; CAGNIN, NATALIA F.; SIMIONI, MILENA; FARIAS, ALLYSSON A.; TORRES, FABIO R.; MOLCK, MIRIAM C.; ARAUJO, TANIA K.; GIL-DA-SILVA-LOPES, VERA L.; DONADI, EDUARDO A.; SIMOES, AGUINALDO L.. Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array. ANNALS OF HUMAN GENETICS, v. 81, n. 6, p. 225-233, NOV 2017. (11/23794-7, 13/17062-9)

BARBOSA, F. B.; SIMIONI, M.; BONILLA, M. M.; TORRES, F. R.; MOLCK, M. C.; ARAUJO, T. K.; DONADI, E. A.; GIL-DA-SILVA-LOPES, V. L.; LEMOS, B.; SIMOES, A. L.. Rare copy number variations in patients with systemic lupus erythematosus. European Journal of Human Genetics, v. 26, p. 1-pg., 2018-10-01. (13/17062-9, 11/23794-7, 16/10306-8)

BARBOSA, FERNANDA BUENO; SIMIONI, MILENA; TORRES, FABIO ROSSI; DONADI, EDUARDO ANTONIO; GIL-DA-SILVA-LOPES, VERA LUCIA; SIMOES, AGUINALDO LUIZ. Copy-neutral loss of heterozygosity pattern in systemic lupus erythematosus. Chromosome Research, v. 23, p. 1-pg., 2015-06-01. (13/17062-9, 11/23794-7)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

BARBOSA, Fernanda Bueno. DNA copy number variation and loss of heterozygosity profiles in susceptibility to systemic lupus erythematosus. 2017. Doctoral Thesis - Universidade de São Paulo (USP). Faculdade de Medicina de Ribeirão Preto (PCARP/BC) Ribeirão Preto.