Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic component and etiology characterized by chronic inflammation and autoantibody production.The purpose of this study was to ascertain copy number variation (CNV) in SLE using a case-control design in an admixed Brazilian population.The whole-genome detection of CNV was performed using Cytoscan HD array in SLE patients and healthy controls.The best CNV candidates were then evaluated by quantitative real-time PCR in a larger cohort or validated using droplet digital PCR.
Logistic regression models adjusted for sex and ancestry covariates was Mountaineering - Accessoires - Gants applied to evaluate the association between CNV with SLE susceptibility.The data showed a synergistic effect between the FCGR3B and ADAM3A loci with the presence of deletions in both loci significantly increasing the risk to SLE (5.9-fold) compared to the deletion in the single FCGR3B locus (3.6-fold).
In addition, duplications in these genes were indeed more frequent in healthy subjects, suggesting that high FCGR3B/ADAM3A gene copy numbers are protective factors against to disease development.Overall, 21 rare CNVs were identified in SLE patients using a four-step pipeline created for identification of rare variants.Furthermore, heterozygous deletions overlapping the CFHR4, CFHR5 and HLA-DPB2 genes were described for the first time in SLE patients.Here we present the first genome-wide CNV study of SLE patients in a tri-hybrid population.
The results show that novel susceptibility loci to SLE can be found kids beanie once the distribution of structural variants is analyzed throughout the whole genome.