The association of copy number variation of fcyriiib gene with the risk of enl in lepromatous leprosy patients from selected sites in Ethiopia

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Date

2018-01

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Addis Ababa Universty

Abstract

Introduction: Erythema nodosum leprosum (ENL) is a Type 2 leprosy reaction which causes significant morbidity and mortality. It is characterized by systemic involvement. Despite its devastating nature, the underlying immunologic mechanisms of ENL have not been fully understood.Many researche findings have shown an association between low copy numbr of Fcgamma receptorIIIB (FcIIIB) and immune complex associated diseases. We hypothesize that the development of ENL in lepromatous leprosy patients is associated to a low copy number variation (CNV) of FcIIIB. Objective: To investigate the association of the CNV of FcRIIIBgene with the risk of ENL Methods: A case-control study was conducted on total of100 patients from selected sites in Ethiopia; ENL patients (n=50) as cases and lepromatous leprosy (LL) patients with no history of ENL (n=50) as controls from April 2017 to June 2018. Clinical information was collected using ENL International Study group form. Blood sample (2.5ml) was collected on PAXgene tube And DNA was extracted using PreAnalytix PAX gene kit, followed by a quantitative Real Time-Polymerase Chain Reaction to assess genetic association of ENL with CNV of FCIIIB gene. Clinical data was double entered in REDCap- Research Electronic Data Captureand analyzed using Graphpad prism version 7 and STATA version 11. P value less than 0.05 was considered statistically significant. Result:The relative copy number of FCIIIB was, median fold change (FC) =1.16 with 95%CI: (1.18-2.32)in cases as compared to controlsbut, the result was not statistically significant (p=0.05). There was also no statistically significant association between relative copy number and the clinical stages of ENL (p=0.07). Conclusion: This study showed that there was no statistically significant difference inthe relative copy number of FCIIIB in ENL patients as compared to controls. Further studies should be done to address the polymorphism of FCIIIB andexpression of FCIIIB on neutrophils should be measured using flow cytometry.

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Keywords

Leprosy, ENL, Fc gamma receptors, CNV, FCRIIIB

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