All polymorphisms studied in this paper [PMID: 15841095] , total : 4 polymorphisms

Title : Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population.

Abstract : Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is important for downregulation of T-cell activation, and CTLA-4 gene polymorphisms have been implicated as risk factors for rheumatoid arthritis (RA). Previous studies of the association between the +49 polymorphism of the CTLA-4 gene in RA have provided conflicting results. In order to determine association of the CTLA-4 gene with RA in Chinese Han population, we used denaturing gradient gel electrophoresis (DGGE) to genotype polymorphisms of four SNPs (MH30, +49, CT60 and JO31) of the CTLA-4 gene in 326 RA patients and 250 healthy controls. Furthermore, meta-analysis of all available studies relating +49 polymorphism to the risk of RA was performed to confirm the disease association. Among the SNPs examined, the genotype frequencies of CTLA-4 +49 and CT60 in RA patients differed significantly from controls (P=0.028 and 0.007). In addition, the distribution of four haplotypes constructed by these two SNPs was significantly different between patients and controls (chi(2)=10.58, d.f. =3, P=0.014). The meta-analysis also revealed that in both European and Asian populations, the CLTA-4 +49 G allele was associated with the risk of RA. These results suggested that the CTLA-4 gene might be involved in the susceptibility to RA in the Chinese Han population and both +49 and CT60 of CTLA-4 gene might be the causal variants in RA disease.

Author : Lei C,Dongqing Z,Yeqing S,Oaks MK,Lishan C,Jianzhong J,Jie Q,Fang D,Ningli L,Xinghai H,Daming R,

Source : Eur J Hum Genet. 2005 Jul;13(7):823-8.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	NA	CTLA4	1493
2	rs231775	CTLA4	1493
3	NA	CTLA4	1493
4	NA	CTLA4	1493