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Study On Expression Of LBH MRNA In Peripheral Blood Mononuclear Cells From Patients With Systemic Lupus Erythematosus

Posted on:2016-09-17Degree:MasterType:Thesis
Country:ChinaCandidate:Y ChangFull Text:PDF
GTID:2284330461970902Subject:Dermatology and Venereology
Abstract/Summary:PDF Full Text Request
Backgrand Systemic lupus erythematosus(SLE) is an autoimmune disease which complexity of clinical manifestations. Its pathogenesis has not yet been fully clarified which generally believed that genetic, immmunity endocrine and environmental factors, genetic factors play an important role in the pathogenesis of SLE. In recent years, genome-wide association study(GWAS) has become a highly efficient approach to search for the susceptility genes of polygenic diseases. Many new susceptibility genes and loci of SLE have been identifed in ethnic groups. Our group has performed a large scale genome-wide association study for SLE, which identified multiple SLE susceptibility genes and established the whole genome genotyping database of 620,000 SNPs including 1,047 cases of SLE and 1,205 healthy controls. Recently, We identified a novel SLE susceptibility gene(LBH) located in 2p23.1 through further validation study of candidate SNPs based on the database. In order to identify the crucial SNPs within LBH and reveal the potential roles in the mechanism of SLE in Chinese population, we plan to perform fine-mapping study with the advanced SNP genotyping and DNA sequencing technology. In this study, we used the real-time PCR to analyze LBH m RNA in the cases and healthy controls in order to explore the role of LBH in the pathogenesis of SLE.Objective We performed a gene expression study to explore whether expression levels of LBH contribute to the pathogenesis of systemic lupus erythematosus(SLE) and are associated with the GWAS-identified SNPs(rs7579944 and rs906868) and the SLEDisease Activity Index(SLEDAI).Methods Fluorescent quantitative reverse transcription polymerase chain reaction(RT-PCR) was used to examine the expression of LBH m RNA in peripheral blood mononuclear cells(PBMCs) from 62 SLE patients and 69 healthy controls. Genotyping of these two SNPs was performed using Sequenom Mass Array system in these individuals. All analyses were performed using SPSS20.0 software.Results The expression levels of LBH m RNA in patients with SLE were significantly decreased compared with those in healthy controls(P < 0.001). No correlation was found between m RNA expression level of LBH gene and SLEDAI scores or SNP rs7579944 and rs906868.Conclusion This study suggests that the LBH gene may play an important role in the pathogenesis of SLE.
Keywords/Search Tags:LBH, SLE, PBMCs, SNP, RT-PCR
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