CNV Analysis in Systemic Lupus Erythematosus patients

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.