title: Genome-wide peripheral blood transcriptome analysis of Arab female lupus and lupus nephritis.
abstract: Systemic lupus erythematosus (lupus) is a genetically heterogeneous autoimmune disorder with an obscure etiology. With 92-94% of human genes exhibiting alternative splicing, gaining insights to such events may lead to better diagnostics. Herein, we explored the genome-wide peripheral blood transcriptome of lupus and its severe form lupus-nephritis (LN) compared to healthy controls (HC). Age/gender/ethnically-matched Arab females were tested using high-density arrays and statistical analysis was carried out using appropriate software. Analysis revealed 15 splice variants that are differentially expressed between lupus/HC and 99 variants between LN/HC (p ≤ 0.05, SI> or ≤ 0.5, Benjamin Hochberg-False discovery rate correction). Comparison between LN/lupus revealed 7 variants that significantly differed in expression. Pathway analysis of differentially spliced-genes postulated 11 significant pathways in lupus and 12 in LN (p<0.05). Analysis of peripheral blood transcriptome possibly revealed signature causative genes that are alternatively spliced, signifying their clinical relevance. Present study is the first to reveal the significance of alternative variants in lupus and LN.
authors.affiliation: Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, Kuwait. Electronic address: s.alfadhli@hsc.edu.kw.
authors.forename: Suad
authors.initials: S
authors.lastname: AlFadhli
authors.affiliation: Department of Rheumatology, Mubarak Al-Kabeer Hospital, Kuwait.
authors.forename: Aqeel A M
authors.initials: AA
authors.lastname: Ghanem
authors.affiliation: Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, Kuwait.
authors.forename: Rasheeba
authors.initials: R
authors.lastname: Nizam
mesh_terms: D018912:Arabs; D005260:Female; D006801:Humans; D008181:Lupus Nephritis / Q000097:blood / Q000235:genetics*; D059467:Transcriptome
keywords: Alternative splicing; Arabs; Lupus; Lupus nephritis; Splice variants