Analysis of CD28 and CTLA‐4 gene polymorphisms in Turkish patients with Behcet's disease

Abstract

In this study we aimed to investigate IVS3 +17T/C single nucleotide polymorphism (SNP) of CD28 gene, +49A/G and -318C/T SNPs of CTLA-4 gene in patients with Behçet's disease (BD) and their potential association to the main clinical features of the disease. These polymorphisms were investigated in a Turkish population of 123 patients with BD and 179 healthy controls, by using PCR-RFLP technique. HLA-B*51 genotype was also studied in both groups by using PCR-SSP. The frequency of IVS3 +17TC genotype of the CD28 gene was significantly increased in BD patients compared to controls (43.6% vs. 31.2%, OR = 1.663, 95% CI = 1.033-2.679, P = 0.039). CTLA-4 +49GG genotype frequency was found to be significantly lower in patients with BD than those of healthy controls (4% vs. 10.6%, OR = 0.357, 95% CI = 0.130-0.983, P = 0.05). Genotype and allele frequencies of the CTLA-4-318C/T polymorphism between the BD and healthy control groups were not significantly different (12.2% vs. 10.6%, OR = 1.170, 95% CI = 0.570-2.402, P = 0.713). There were no associations between the studied polymorphisms and the main clinical features of BD. The frequencies of HLA-B*51 were 60.3% and 30.7% in BD and control groups, respectively (OR = 3.429, 95% CI = 2.115-5.559, P = 0.0001). Association between HLA-B*51 and each studied polymorphism did not reach to significant levels (OR = 0.479, 95% CI = 0.228-1.004, P = 0.064 for CD28 IVS3 +17TT genotype; OR = 2.180, 95% CI = 1.025-4.639, P = 0.061 for TC genotype; OR = 1.570, 95% CI = 0.870-2.836, P = 0.146 for C allele). These results may suggest that CD28 IVS3 +17TC genotype may be a risk factor for the development of BD, on the contrary CTLA-4 +49GG genotype may be protective in the studied Turkish population.

Polymorphisms in the 2q33 and 3q21 chromosome regions including T-cell coreceptor and ligand genes may influence susceptibility to pemphigus foliaceus

“…Although CD28 SNPs have been related to alterations in mRNA splicing and transcription factor binding [10,52], no significant association was found between PF disease status and CD28 polymorphisms analyzed either individually or in haplotypes. Associations were found with BehÈet's disease and idiopathic ischemic stroke [8,9]. However, in accordance with our results, CD28 polymorphisms seemingly also do not influence susceptibility to various diseases, including autoimmune thyroid diseases and autoimmune hepatitis [53,54].…”

Relationships between genetic polymorphisms of triggering receptor expressed on myeloid cells-1 and inflammatory bowel diseases in the Korean population

“…Baranathan et al (2007) reported that protein tyrosine phosphatase type 22 (PTPN22 620W) was inversely associated with BD susceptibility. Gunesacar et al (2007) reported that SNP of the CD 28 gene was increased in BD patients, whereas the CTLA-4 gene was decreased. With regard to intestinal BD, however, there have been no reports on genetic polymorphisms.…”

<b><i>CTLA4</i></b> and <b><i>CD28</i></b> Gene Polymorphisms with Respect to Affective Symptom Domain in Schizophrenia

“…However, it is known that this polymorphic site is within the region where regulatory elements could bind, influencing the mRNA splicing efficiency and consequently changing the expression of the CD28 molecule [61]. The distribution of alleles and genotypes of the CD28 gene polymorphism in patients with schizophrenia is similar to that found in patients with autoimmune disorders such as early-onset type 1 diabetes [62] and Behçet's disease [63]. On the other hand, in the study of rheumatoid arthritis there is an inverse distribution of alleles and genotypes of the CD28 gene polymorphism that was found in our group of schizophrenia patients [64].…”