Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders.
10.3858/emm.2009.41.5.040
- Author:
Eun Heui JIN
1
;
Seung Cheol SHIM
;
Hwan Gyu KIM
;
Soo Cheon CHAE
;
Hun Taeg CHUNG
Author Information
1. Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan 570-749, Korea. chung@ulsan.ac.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
COTL1 protein, human;
electrophoresis, gel, two-dimensional;
polymorphism, single nucleotide;
proteomics;
rheumatoid arthritis;
systemic lupus erythematosus
- MeSH:
Arthritis, Rheumatoid/*genetics/immunology/metabolism;
Autoimmune Diseases/genetics/immunology;
Case-Control Studies;
Electrophoresis, Gel, Two-Dimensional;
Genotype;
Humans;
Lupus Erythematosus, Systemic/genetics/immunology;
Microfilament Proteins/*genetics/metabolism;
Polymorphism, Genetic/*genetics;
Proteome/genetics;
Proteomics/*methods;
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
- From:Experimental & Molecular Medicine
2009;41(5):354-361
- CountryRepublic of Korea
- Language:English
-
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.
