Exp Mol Med.  2009 May;41(5):354-361. 10.3858/emm.2009.41.5.040.

Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders

• Jin EH
• Shim SC
• Kim HG
• Chae SC
• Chung HT

• KMID: 1123810
• DOI: http://doi.org/10.3858/emm.2009.41.5.040

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.

Keyword

COTL1 protein, human; electrophoresis, gel, two-dimensional; polymorphism, single nucleotide; proteomics; rheumatoid arthritis; systemic lupus erythematosus

MeSH Terms

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