All polymorphisms studied in this paper [PMID: 19307756] , total : 4 polymorphisms

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.

Author : Jin EH,Shim SC,Kim HG,Chae SC,Chung HT,

Source : Exp Mol Med. 2009 May 31;41(5):354-61. doi: 10.3858/emm.2009.41.5.040.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	NA	COTL1	23406
2	rs13521	COTL1	23406
3	rs247862	COTL1	23406
4	rs1047121	COTL1	23406