{"title":"Clinical association of FKBP5 gene in systemic lupus erythematosus patients","authors":"Safa Tahri , Olfa Abida , Nesrine Elloumi , Hend Hachicha , Slim Charfi , Sameh Marzouk , Khawla Kammoun , Zouhir Bahloul , Tahiya Boudawara , Hatem Masmoudi , Raouia Fakhfakh","doi":"10.1016/j.genrep.2024.101948","DOIUrl":null,"url":null,"abstract":"<div><p>This study aimed to determine the impact of genetic variation in FKBP prolyl isomerase 5 (<em>FKBP5</em>) on mRNA and protein expression levels, on glucocorticoids (GC) responsiveness and its clinical association in systemic lupus erythematosus (SLE). The genotyping of the FKBP5-rs1360780 was performed using TaqMan SNP genotyping technology. The mRNA expression level in peripheral blood mononuclear cells was evaluated using realtime-PCR. The immunohistochemistry staining was used to analyze FKBP5 protein expression level in renal biopsies. A risk association was revealed between rs1360780 > C allele and SLE pathogenesis. We found an up-regulation in the <em>FKBP5</em> mRNA expression level in SLE patients with the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score ≤ 6 compared to patients with SLEDAI score > 6. Our results revealed an altered renal cell expression of FKBP5 protein in patients with lupus nephritis compared to control samples. However, no association was observed between the FKBP5 and the response to GC treatment. Our study is the first to demonstrate a link between SLE and <em>FKBP5</em> gene, in terms of mRNA and protein expression levels, and the variant of the SNP rs1360780 in SLE, suggesting a susceptibility role of rs1360780 > C.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2452014424000712","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
This study aimed to determine the impact of genetic variation in FKBP prolyl isomerase 5 (FKBP5) on mRNA and protein expression levels, on glucocorticoids (GC) responsiveness and its clinical association in systemic lupus erythematosus (SLE). The genotyping of the FKBP5-rs1360780 was performed using TaqMan SNP genotyping technology. The mRNA expression level in peripheral blood mononuclear cells was evaluated using realtime-PCR. The immunohistochemistry staining was used to analyze FKBP5 protein expression level in renal biopsies. A risk association was revealed between rs1360780 > C allele and SLE pathogenesis. We found an up-regulation in the FKBP5 mRNA expression level in SLE patients with the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score ≤ 6 compared to patients with SLEDAI score > 6. Our results revealed an altered renal cell expression of FKBP5 protein in patients with lupus nephritis compared to control samples. However, no association was observed between the FKBP5 and the response to GC treatment. Our study is the first to demonstrate a link between SLE and FKBP5 gene, in terms of mRNA and protein expression levels, and the variant of the SNP rs1360780 in SLE, suggesting a susceptibility role of rs1360780 > C.
Gene ReportsBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.30
自引率
7.70%
发文量
246
审稿时长
49 days
期刊介绍:
Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.