BackgroundSNAP-25 protein is contributory to plasma membrane and synaptic vesicle fusions that are critical points in neurotransmission. SNAP-25 gene is associated with behavioral symptoms, personality and psychological disorders. In addition, SNAP-25 protein can be related to different neurotransmitter functions due to its association with vesicle membrane transition and fusion. This is important because neurologic, cognitive, and psychologic disorders in fibromyalgia syndrome (FMS) can be related to this function. This relationship may be enlightening for etiopathogenesis of FMS and treatment approaches. We aimed to study a SNAP-25 gene polymorphism, which is related to many psychiatric diseases, and FMS association in this prospective study.MethodsWe included 71 patients who were diagnosed according to new criteria and 57 matched healthy women in this study. Both groups were evaluated regarding age, height, weight, BMI, education level, marital and occupational status. A new diagnosis of FMS was made from criteria scoring, SF-36, Beck depression scale, and VAS that were applied to the patient group. SNAP-25 gene polymorphism and disease activity score correlations were compared.ResultsMean age was 38±5,196 and 38.12±4.939 in patient and control groups, respectively (p=0.542). No significant difference was found between groups regarding age, height, weight, BMI, education level, marital or occupational status (p > 0.05). Ddel T/C genotype was significantly higher in the patient group (p = 0.009). MnlI gene polymorphism did not show a correlation with any score whereas a significant correlation was found between Ddel T/C genotype and Beck depression scale and VAS score (p < 0.05).ConclusionFMS etiopathogenesis is not clearly known. Numerous neurologic, cognitive and psychological disorders were found during studies looking at cause. Our study showed increased SNAP-25 Ddel T/C genotype in FMS patients compared to the control group, which is related to behavioral symptoms, personality and psychological disorders in FMS patients.
BackgroundClinical observations suggest that vitamin D may influence fibromyalgia etiology. FMS and vitamin D deficiency share a similar symptom profile; the relationship between these conditions is unclear. Vitamin D receptor is a crucial mediator of the symptoms of vitamin D deficiency. Thus, vitamin D receptor gene polymorphisms or haplotypes may contribute to vitamin D resistance.ObjectivesThis study evaluated the clinical relationship between FMS and vitamin D gene among Turkish FMS patients.Methods73 patients with FMS were diagnosed according to the ACR 2010 criteria; the control group included 61 healthy unrelated volunteers. The rs2228570 (Fok I), rs1544410 (Bsm I), rs7975232 (Apa I) and (rs731236) Taq I polymorphisms were examined using PCR-RFLP.ResultsIn individual SNP analyses, none of the snps have been found to be associated with FMS (p values are 0.491, 0.477, 0.207, and 0.736 respectively). However, it has been detected that there is a strong association between haplotypes of VDR gene polymorphisms and FMS. As a result of this study, the effect of haplotypes is shown to be both risky and protective. P value of risk haplotypes ATC (rs2228570, rs1544410, rs7975232) is 0,015 (26,5%) and TTT is 0,0068 (12,8%). The p value of collected risk haplotypes (ATC, TTT) is 0,006 (39,3%) and (ATC, TGT, and TTT) 0,000009 (58,7%). Frequent protective haplotype TTC is 0,0385 (6,8%). The p value of collected protective haplotypes (ATT, TCG, and TTC) is 0,008 (38%).Table 1.Haplotype analysis of VDR gene polymoprhisms (1 = Bsm1, 2 = Fok1, 3 = Taq1)Haplo No.HaplotypeControlCasePORRRRisk/ProtectiveBsm1-Apa1-Fok1(%)(%)(95% CI)(95% CI)1ATT31.738.40.3270.740.83R(1.33–0.42)(1.21–0.56)2ATC26.514.50.0152.372.01P(4.82–1.17)(3.59–1.13)3TGT19.410.50.0772.051.85P(4.61–0.91)(3.71–0.92)4TTT12.82.60.00685.504.92P(21.52–1.41)(18.4–1.34)5TGC5.212.30.0750.390.39R(1.14–0.13)(1.13–0.16)6TTC1.16.80.03850.150.16R(1.17–0.02)(1.19–0.02)2+4ATC+TTT39.317.10.0063.12.28P(5.99–1.61)(3.73–1.39)2+3+4ATC+TGT+TTT58.727.60.0000093.732.13P(6.74–2.06)(3.04–1.49)1+5+6ATT+TGC+TTC3857.50.00080.390.60R(0.68–0.22)(0.82–0.44)ConclusionsThe present study is the first study evaluating VDR gene in patients with FMS. Our results suggest that haplotypes in VDR are strongly associated with fibromyalgia expressing both risk and protective effect. Our findings may help guide future research needed to define the role of vitamin D in FMS.Disclosure of InterestNone declared
Background: Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The Mediterranean fever (MEFV) gene is responsible for FMF and encodes pyrin that suppresses the inflammatory response. Most of the FMF-related mutations have been identified in exon 2 (e.g., E148Q and R202Q) and exon 10 (M680I, M694V, M694I and V726A) of the MEFV gene, and each missense mutation is known to increase production of interleukin-1, a proinflammatory cytokine. Our aim was to investigate effects of MEFV variant alleles on the manifestations of gout.
Background Fibromyalgia syndrome (FMS) is a common chronic musculoskeletal disorder characterized by the presence of widespread pain and multiple tender points on physical examination. Deficiency of vitamin D can cause similar musculoskeletal symptoms. Studies regarding vitamin D and FMS relationship have been done in the recent years. Although some studies determined this relationship, other have failed to do so. Objectives We aimed to evaluate the relationship between serum vitamin D and parathyroid hormone (PTH) levels and clinical findings in premenopausal FMS patients. Methods 77 patients diagnosed with FMS according to new criteria and 60 healthy women were included in this study. We did not include smokers and obese patients. Both groups were questioned for age, height, weight, BMI, education level, working status, number of children, menarche age, living condition (urban, rural), dressing style and sun exposure. Both groups were checked for serum calcium, phosphor, alkaline phosphatase, vitamin D, and PTH levels. FMS new diagnosis criteria scoring, sleep symptom scale, SF-36, Beck depression scale, BASDAI, VAS, revised fibromyalgia impact (FIQR) questionnaires were done to the patient group, and scores were recorded. Serum vitamin D deficiency was described as ≤20 ng/mL, insufficient vitamin D as 21-29 ng/mL and adequate vitamin D as ≥30 ng/mL. Results Mean age was 38,68±5,196 and 38,12±4.939 years for patient and control group, respectively. No significant difference was found between the groups for age, height, weight, BMI, education level, working status, number of children, menarche age, living condition (urban, rural), dressing style and sun exposure (p>0.05). Hemoglobin, calcium, phosphor, and alkaline phosphatase were similar in both groups. Serum vitamin D levels were found lower in the patient group when compared with controls (p=0.000). Parathyroid hormone levels were significantly higher in the patient group (p=0.000). Vitamin D levels were ≤20 ng/mL for 32 (42.7%), 21-29 ng/mL for 14 (18.7%) and >30 ng/mL for 29 (38.7) patients. No significant difference between scores were found when patients who had serum vitamin D levels ≤20 ng/mL and >20 ng/mL compared. SF-36, new diagnosis criteria score and FIQR scores were correlated. Patient serum PTH levels and serum vitamin D levels showed negative correlation, and it was significantly higher than in the control group (p=0.000). Conclusions We determined an increase in vitamin D deficiency and insufficiency in FMS patients. However, pain and quality of life scores did now show any significant difference when patient who had vitamin D deficiency and patients who did not have were compared. We highly think that receptor inactivity must be investigated before stating that vitamin D levels and FMS disease scores do not show any correlation. Disclosure of Interest None Declared
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