Rheumatoid arthritis (RA [MIM 180300]) is a complex, polygenic inflammatory autoimmune disease, resulting from interactions between genetic and environmental factors. Some of the RA-associated HLA-DRB1 alleles have shared epitope, but their distribution varies among different racial/ethnic groups. This study was aimed at investigating the distribution of HLA-DRB1 alleles in patients with RA in eastern Black Sea region of Turkey. DNA samples of 320 patients with RA and 360 healthy controls were studied for the determination of HLA-DRB1 allele distribution using PCR-SSP method. The allele frequencies of HLA-DRB1*01, *04, and *09 were higher in patients with RA compared with the controls (P < 0.005, P < 0.0001, and P < 0.01, respectively). On the other hand, in patients with RA, HLA-DRB1*13 allele was lower than the controls (P < 0.001). Of the HLA-DRB1*04 subgroups, *0401 (40.83% vs. 18.75%, P < 0.001) was the most frequent allele in patients with RA, while DRB1*0402 (30.00% vs. 12.50%, P < 0.005) allele in the controls. HLA-DRB1 allele frequencies in the patients with RA and the controls showed Hardy-Weinberg rule compliance. Results of this study indicate that HLA-DRB1*01, *04, and *09 alleles were associated with RA, and HLA-DRB1*13 was protective allele against RA. Among the subgroups of HLA-DRB1*04, *0401 was detected to be RA associated, while *0402 was being protective. These results have some differences compared with previous reports originating from other regions of Turkey.
Impaired trace element metabolism may be involved in some of the metabolic dysfunctions, and contribute to the development of vascular complications in diabetic patients. In order to investigate the relationships among diabetes mellitus, trace element status, leukocyte activation and vascular complications, 55 type 2 diabetic patients (34 with vascular complications and 21 without vascular complications) and 50 non-diabetic control subjects were studied. The mean leukocyte count (p<0.001), polymorphonuclear elastase (p<0.001), erythrocyte malondialdehyde (p<0.001), and glycated haemoglobin (p<0.001) levels, and copper/ zinc ratio (p<0.001) were found to be higher in diabetic patients than in the control group, but serum zinc levels (p<0.001) and erythrocyte superoxide dismutase activities (p<0.001) were lower, and serum copper levels showed no differences. In patients with vascular complications, the mean leukocyte count (p<0.05), zinc (p<0.05), polymorphonuclear elastase (p<0.05), erythrocyte malondialdehyde (p<0.001) and glycated haemoglobin (p<0.05) levels, and copper/zinc ratio (p<0.001) were significantly different from those patients without complications. Closer correlations between the copper/zinc ratio and polymorphonuclear elastase (r=0.82, p<0.01), erythrocyte malondialdehyde (r=0.46, p<0.05) or erythrocyte superoxide dismutase (r= -0.85, p<0.01) were found in patients with vascular complications compared to those without, and all of those showed significant relationships with poor glycaemic metabolic control. We conclude that zinc deficiency may provoke polymorphonuclear leukocyte activation, and contributes to the development of vascular complications in type 2 diabetic patients. Furthermore, copper/zinc ratio and polymorphonuclear elastase may be used as important markers to evaluate the presence of vascular complications.
Acute mesenteric ischemia (AMI) is a rare condition that may be associated with a variety of congenital prothrombotic disorders (PDs). The purpose of this study was to assess the prevalence of these disorders in 28 AMI patients compared with 103 healthy individuals from the northeastern region of Turkey. They were screened for protein C, antithrombin III, and protein S deficiencies; and gene analysis was performed using the polymerase chain reaction. A PD was revealed in 16 (57%) patients and 33 (32%) controls (p = 0.020). Factor V Leiden (FVL), prothrombin G20210A mutation, and TT677 homozygous mutation of methylenetetrahydrofolate reductase was detected in 10 (36%) patients versus 16 (15%) controls (p = 0.035), 3 (11%) patients versus 10 (9%) controls (p = 1.00), and 1 (3%) patient versus no controls, respectively. Consistent with caucasian ethnic groups, there was high prevalence of PDs, especially FVL; and these abnormalities might be a significant predisposing factor in the pathogenesis of AMI.
The MTHFR C677T mutation has been shown to be associated with venous thrombosis. The role of this mutation in ischemic stroke is unclear. We investigated whether the MTHFR mutation is a risk factor for patients with ischemic stroke in the Black Sea Turkish population or not. We analyzed 30 patients (19 male, 11 female) [median age: 50 years (range: 28-78)] with ischemic stroke who had no known predisposition factors for stroke and 242 (182 male, 60 female) healthy controls [median age: 42 years (range: 18-65)]. Detection of the MTHFR C677T mutation was performed by using commercially available allele-specific PCR-ELISA kits. Prevalence of the MTHFR C677T genotype was 49.1% (CT, 45.8%; TT, 3.3%) in controls and 50% (CT, 43.3%; TT, 6.6%) in patients [OR: 1.03, 95% CI (0.45-2.35]). The prevalence of homozygous gene mutation for MTHFR was higher among patients with stroke than control subjects, but this difference was not statistically significant. The MTHFR gene mutation is not a risk factor for ischemic stroke formation in patients from the Black
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