title: Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders.
abstract: To select candidate genes, we attempted to comparative analysis of protein levels between rheumatoid arthritis (RA) patients and healthy controls by two-dimensional electrophoresis (2-DE) and matrix-assisted laser desorption ionization mass spectrometry (MALDI-TOF-MS). We identified 17 proteins that showed up- or down-regulated spots in RA patients. We found that coactosin-like1 (COTL1) were highly expressed in RA patients compared with healthy controls. We performed a case-control study to determine whether the COTL1 gene polymorphisms were associated with RA and systemic lupus erythematosus (SLE). The genotype frequency of c.-1124G>T and the allelic frequency of c.484G>A in RA patients, and the genotype frequency of c.484G>A in SLE patients were significantly different from healthy controls (P=0.009, 0.027, and 0.025, respectively). We also investigated the correlation with the levels of rheumatoid factor (RF) and anti-cyclic citrullinated peptide (CCP) antibody in RA patients, and anti-nuclear antibodies (ANA) in SLE patients. The c.484G>A polymorphism in RA patients has significant association with the levels of anti-CCP antibody (P=0.03). Our findings demonstrated that c.-1124G>T and c. 484G>A polymorphisms of the COTL1 gene might be associated with the genetic susceptibility of autoimmune disorders.
authors.affiliation: Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Korea.
authors.forename: Eun-Heui
authors.initials: EH
authors.lastname: Jin
authors.forename: Seung-Cheol
authors.initials: SC
authors.lastname: Shim
authors.forename: Hwan-Gyu
authors.initials: HG
authors.lastname: Kim
authors.forename: Soo-Cheon
authors.initials: SC
authors.lastname: Chae
authors.forename: Hun-Taeg
authors.initials: HT
authors.lastname: Chung
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D016022:Case-Control Studies; D015180:Electrophoresis, Gel, Two-Dimensional; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000276:immunology; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D020543:Proteome / Q000235:genetics; D040901:Proteomics / Q000379:methods*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: C118115:COTL1 protein, human; D008840:Microfilament Proteins; D020543:Proteome