The effect of IL-4 and MTHFR gene variants in ankylosing spondylitis.

PURPOSE: Ankylosing Spondylitis (AS) is a chronic inflammatory rheumatic disease that characteristically affects the sacroiliac joints and the spine. The exact pathogenesis of AS remains poorly understood, but genetic factors play a key role in disease development. Several genes have been consistently associated with susceptibility to AS. This study was conducted in Turkish AS patients to determine the frequency of the methylenetetrahydrofolate reductase (MTHFR) gene C677T and interleukin-4 (IL-4) gene 70 bp variable number of tandem repeats (VNTR) variants, as well as their association with clinical characteristics. METHODS: Genomic DNA obtained from 272 persons (122 AS patients and 150 healthy controls) was used in this study. Genomic DNA was isolated and genotyped using a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MTHFR C677T and IL-4 70 bp VNTR gene variants, which were determined using specific PCR primers. RESULTS: There was statistically significant difference between the groups with respect to MTHFR genotype distribution (p = 0.02) and allele frequencies (p < 0.001). When we examined MTHFR and IL-4 genotype frequencies according to clinical characteristics, we found an association between the homozygous MTHFR TT genotype and ocular involvement, although this did not reach statistical significance (p = 0.02). However, we did not find any difference between the groups with respect to IL-4 genotype distribution or allele frequencies and clinical characteristics (p > 0.05). CONCLUSION: Our findings suggest that there is an association of the MTHFR gene C677T polymorphism with the susceptibility of a person for development of AS. However, the IL-4 gene is not associated with AS within the same population.

Association between the ACE gene I/D polymorphism and osteoporosis in a Turkish population.

PURPOSE: The purpose of this study was to assess the relationship between osteoporosis and the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism in a Turkish population. METHODS: The study group consisted of 238 unrelated women with osteoporosis and 124 unrelated healthy female controls. All participants, patients and healthy controls, were of Turkish origin from the central region of Turkey. Genomic DNA was isolated from whole venous blood samples using a commercial DNA isolation kit. The ACE gene I/D polymorphism was analysed by polymerase chain reaction and gel electrophoresis. RESULTS: Frequencies of the DD, ID and II genotypes in the patients were 44.5, 41.2 and 14.3 %, and in the controls they were 25.0, 51.6 and 23.4 %, respectively. A significant difference was observed between patients and controls according to genotype frequency (p=0.001). D and I allele frequencies of the I/D polymorphism were 65.1 and 34.9 % in the patient group and 50.8 and 49.2 % in the control group, respectively (p<0.001). CONCLUSION: The ACE gene I/D polymorphism could be a genetic factor associated with osteoporosis.

Frequency of fragmented QRS in ankylosing spondylitis : a prospective controlled study.

OBJECTIVES: Since inflammatory diseases may also cause fibrosis, we hypothesized that patients with ankylosing spondylitis (AS) may have frequent fragmented QRS complexes (fQRS) when compared to a control group. PATIENTS AND METHODS: In this prospective study, 71 patients with AS (group 1) were compared with 42 age- and gender-matched individuals without rheumatic disease (group 2, control). fQRS was described as the presence of an additional R wave (R') or R or S wave bridging, or the presence of fragmentation on two consecutive derivations that correspond to the major coronary artery regions. RESULTS: The mean ages of groups 1 and 2 were 37.67 ± 9.17 and 40.43 ± 11.09 years, respectively (p = 0.270). fQRS was detected in 23 AS patients (32.4%), whereas 3 patients in the control group had fQRS (7.14%). Age, gender, medication, and echocardiography results were comparable. The disease duration score was 101.37 ± 59.96 months in fQRS(+) patients; in contrast, it was 57.93 ± 30.95 months in fQRS(-) patients. This difference was of statistical significance (p = 0.046). A statistically significant difference was not determined between the fQRS(+) and fQRS(-) groups when evaluated in terms of HLAB27 (p = 0.739). In the fQRS(+) group, the mean lumbar Schober score was 2.91 ± 1.52; in patients without fQRS, it was 4.10 ± 1.40. The mean thoracic expansion test scores in the fQRS(+) and fQRS(-) groups were 1.44 ± 0.66 and 2.69 ± 1.22, respectively. CONCLUSION: Given the higher frequency of fQRS detected in electrocardiography studies in AS patients than in the control group, cardiac fibrosis is thought to be more likely to occur in AS patients without cardiovascular disease. The presence of fQRS may be a simple and cost-effective method for predicting cardiac fibrosis in AS patients. fQRS can be a predictive marker for fibrosis in patients with AS.

The effects of calcitriol therapy on serum interleukin-1, interleukin-6 and tumour necrosis factor-alpha concentrations in post-menopausal patients with osteoporosis.

Seventy post-menopausal women with osteoporosis were randomized into two groups: 40 patients received calcitriol (0.5 microg/day) and calcium (1000 mg/day); and 30 control patients received calcium (1000 mg/day) alone. Thirty healthy women formed the healthy control group. Bone mineral density (BMD) and serum interleukin (IL)-1, IL-6 and tumour necrosis factor-alpha (TNF-alpha) concentrations were measured at baseline and after 6 months of treatment. Calcitriol treatment for 6 months significantly increased BMD and reduced serum IL-1 and TNF-alpha concentrations compared with no significant changes in patients treated with calcium alone. Both treatments increased serum calcium and decreased parathyroid hormone concentrations. The healthy control group had a significantly lower IL-6 concentration than the post-menopausal women with osteoporosis. We have shown that calcitriol was an effective treatment for osteoporosis. Significant reductions in serum IL-1 and TNF-alpha concentrations suggest that, in addition to increasing the absorption of calcium, calcitriol may directly affect bone metabolism via cytokines.

Evaluation of some antioxidant enzyme activities (SOD and GPX) and their polymorphisms (MnSOD2 Ala9Val, GPX1 Pro198Leu) in fibromyalgia.

OBJECTIVE: Fibromyalgia syndrome (FMS) is a pain syndrome in which common pain in muscle-skeletal system, sleeping disorder and fatigue symptoms coexist. The aim of the present study was to determine SOD and GPX enzyme levels in FMS as well as to investigate possible associations between FMS and Ala9Val polymorphism of MnSOD2 and Pro198Leu polymorphism of GPX1. PATIENTS AND METHODS: The study included 127 women FMS patients and 56 healthy subjects. Total SOD and total GPX enzyme activities were determined in patient and control groups. In addition, frequencies of Ala9Val polymorphism of MnSOD2 and Pro198Leu polymorphism of GPX1 were also detected. RESULTS: SOD enzyme activity was higher in FMS group compared to control (p < 0.001). GPX enzyme activity, on the other hand, was not different between FMS and control groups. No significant differences were found between genotype and allele frequencies of GPX1 and MnSOD2 polymorphisms. CONCLUSIONS: Elevated total SOD and unchanging total GPX1 activities in FMS patients could be the reason for increased oxidative stress and lipid peroxidation in FMS. Genotype and allele frequencies of Ala9Val polymorphism of MnSOD2 and Pro198Leu polymorphism of GPX1 in FMS have been studied first time in the present study, and no associations were found between them and FMS.

The impact of ankylosing spondylitis on female sexual functions.

The aim of this study was to explore the impact of ankylosing spondylitis (AS) and the disease-related variables, psychological status and the quality of life on the female patients' sexual function measured according to the Female Sexual Function Index (FSFI). Thirty-seven sexually active female AS patients and 33 healthy controls were enroled in this study. Their demographic data were evaluated and the generalised pain in patients with AS was assessed according to the visual analogue scale (0-100 mm). Laboratory tests were conducted in order to measure the C-reactive protein (CRP) and erythrocyte sedimentation rates (ESR) of the patients. In comparison to the healthy control group, patients with AS had significantly lower scores in each of the five domains of the FSFI except for the pain domain (P<0.05). The disease activity, functional status, quality of life, radiological score and CRP levels were negatively correlated with the FSFI (P<0.05). No significant correlation was observed with the disease duration, smoking status, depression, anxiety, pain and ESR when the total scores and the scores from the domains of the FSFI were compared. The sexual function is impaired in female patients with AS. This impairment in the sexual function is especially related to the functional status and disease activity among the clinical and laboratory parameters.