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KMID : 0620920090410050354
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Experimental & Molecular Medicine
2009 Volume.41 No. 5 p.354 ~ p.361
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Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders
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Jin Eun-Heui
Kim Hwan-Gyu
Shim Seung-Cheol
Chae Soo-Cheon
Chung Hun-Taeg
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Abstract
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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.
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KEYWORD
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COTL1 protein, human, electrophoresis, gel, two-dimensional, polymorphism, single nucleotide, proteomics, rheumatoid arthritis, systemic lupuserythematosus
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