Effect of a functional variant of tumor necrosis factor-ß gene in temporomandibular disorders: A pilot study.

BACKGROUND: Temporomandibular disorders (TMD) are a group of conditions that cause chronic orofacial pain. The tumor necrosis factor ß (TNF-ß) is a proinflammatory cytokine that is involved in the various aspects of the inflammatory process including organization and maintenance, and in the arrangement of cells at the inflammation site. The purpose of this study was to evaluate the correlation between TNF-ß +252A/G (rs909253) variant and susceptibility to TMD in a Turkish cohort. METHODS: The study included 104 patients (26 males, 78 females) with TMD and 126 healthy controls (44 males, 82 females). The TNF-ß +252A/G variant analysis was based on Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). RESULTS: There was no deviation from HWA for TNF-ß +252A/G variant in patient and control groups. There was significant difference in genotype and allele frequencies between patient group and control group in terms of TNF-ß +252A/G variant, respectively (P = 0.010, 0.015). A significant increase in the TNF-ß +252 AG genotype and G allele frequencies were observed in TMD patients compared to healthy controls. The individuals with GG genotype and G allele had an increased risk of developing TMD. A statistically significant association was observed when the patients were compared with the controls according to AA genotype vs AG+GG genotypes (P = 0.002, OR: 2.23, 95% CI:1.31-3.82). TNF-ß +252A/G genotype distribution was associated with chewing problems (P = 0.046). CONCLUSIONS: In conclusion, our results provided evidence that TNF-ß +252A/G variant may contribute to TMD development in a Turkish cohort. Further studies are needed to confirm this observation.

MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort.

BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. MATERIAL-METHODS: This case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods. RESULTS: The genotype distribution and allele frequency of the MTHFR C677T were statistically different between the patients and the control group (P=.006, P=.001, respectively). The frequency of the TT genotype and T allele of MTHFR C677T was significantly higher in the patients than in the controls. The genotype distribution of MTHFR A1298C variant did not show any statistically significant difference between the patients and the controls (P>.05). The patients had statistically different frequencies in allele C of MTHFR A1298C variant compared with the control (P=.032). We also examined the risk associated with inheriting the combined genotypes for the two MTHFR variants. According to these results, individuals who were CC homozygous at C677T locus and AA homozygous at A1298C locus have a lower risk of developing FMF (P=.002). Individuals who were TT homozygous at C677T locus and AC heterozygous at A1298C locus have higher risk of developing FMF (P=.033). CONCLUSION: Our findings clearly showed there was an association the MTHFR C677T/A1298C variants and susceptibility to FMF in the Turkish sample.

The evaluation of two genetic polymorphisms of paraoxonase 1 in patients with pulmonary embolism.

BACKGROUND AND OBJECTIVE: Pulmonary embolism (PE) is caused by some genetic factors for more than half patients. Paraoxonase 1 (PON1) has significant anti-oxidative and anti-inflammatory effects. According to our knowledge, there is no study researching the relation between PON 1 gene polymorphisms and PE in the literature. Therefore, it is aimed to research possible impacts of PON 1 Q192R and L55M polymorphisms on PE, considering anti-inflammatory and anti-oxidative effects of PON 1 in Turkish population. METHODS: One hundred and five PE patients and one hundred and seventeen controls were enrolled in this study. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses for the PON1 gene Q192R and L55M polymorphisms. RESULTS: Any associations were not found between clinical and demographical characteristics of PE patients and the PON1 gene Q192R polymorphism; however, there were associations between surgery, chronic renal failure, and cerebrovascular disease on the history of patients and L55M polymorphism (P = .013, P = .037, and P = .031, respectively). Genotype and allele frequencies did not show any significant differences between patients and controls according to PON1 gene Q192R and L55M polymorphisms (P > .05). CONCLUSION: The results of this study suggest that there is no correlation between PE and PON 1 gene Q192R and L55M polymorphisms in the Turkish population from the Central Black Sea region. Besides, whole genotypes and alleles of Q192R and L55M are not risk factors for patients with PE in this population.

The Evaluation of IL6 and ESR1 Gene Polymorphisms in Primary Dysmenorrhea.

Primary dysmenorrhea is the most common gynecological complaint with painful menstrual cramps in pelvis without any pathology. It affects about half of menstruating women, and it causes significant disruption in quality of life. We investigated the association between IL6 gene promoter and ESR1 gene XbaI and PvuII polymorphisms and primary dysmenorrhea. In this case-control study, 152 unrelated young women with primary dysmenorrhea and 150 unrelated healthy age-matched controls participated. Genomic DNA was isolated and IL6 and ESR1 gene polymorphisms were genotyped using PCR-based RFLP assay. The distribution of genotype and allele frequencies of IL6 gene promoter and ESR1 gene XbaI polymorphisms were not statistically different between patients and controls (p > 0.05). However, the genotype and allele frequencies of ESR1 gene PvuII polymorphism showed statistically significant differences between primary dysmenorrhea patients and controls (p = 0.009 and p = 0.021, respectively). Statistically significant associations were also observed between age and married status of primary dysmenorrhea patients and ESR1 gene PvuII polymorphism (p = 0.044 and p = 0.023, respectively). In combined genotype analyses, AG at ESR1 XbaI and TC at ESR1 PvuII loci encoded a p-value of 0.027. Thus, individuals who are heterozygote at both loci have a lower risk of developing primary dysmenorrhea. Our study suggests no strong association between IL6 gene promoter and ESR1 gene XbaI polymorphisms and primary dysmenorrhea in Turkish women. However, ESR1 gene PvuII polymorphism showed statistically significant differences between primary dysmenorrhea patients and controls. The potential association between ESR1 gene PvuII polymorphism and age and married status of dysmenorrhea patients deserves further consideration.

Analysis of Manganese Superoxide Dismutase and Glutathione Peroxidase 1 Gene Polymorphisms in Vitiligo.

Vitiligo is a hereditary/acquired progressive pigmentation disorder characterized by discoloration of skin as a result of melanocyte dysfunction. Recent studies have proposed that oxidant/antioxidant status plays an important role in vitiligo pathogenesis because of the toxic effects on melanocytes. In this study, we aimed to investigate possible associations of MnSOD Ala-9Val and GPx1 Pro198Leu polymorphisms with vitiligo with in Turkish population. The study group consists of 57 patients with vitiligo and 69 healthy controls. Genotyping is performed to identify MnSOD Ala-9Val and GPx1 Pro198Leu polymorphisms. The method used for genotyping was based on the PCR amplification and detection of polymorphisms by hybridization probes labeled with fluorescent dyes. Both the genotype and allele frequencies of MnSOD Ala-9Val (p = 0.817 and p = 0.553, respectively) and GPx1 Pro198Leu polymorphisms (p = 0.422 and p = 0.673, respectively) were not significantly different between vitiligo patients and the control group. Although no significant difference was found, this is the first report investigating the possible associations between the MnSOD Ala-9Val and GPx1 Pro198Leu polymorphisms in Turkish population. Further studies with large populations will be able to clarify the association better.

Association of Genetic Polymorphisms in TNF and MIF Gene with the Risk of Primary Dysmenorrhea.

Primary dysmenorrhea, which affects 90 % of adolescent girls and more than 50 % of menstruating women worldwide, is characterized by recurrent pain during menses in the absence of a detectable organic disease. The aim of this study is to assess the association between MIF -173 and TNF -308 genetic polymorphisms and the clinical features of primary dysmenorrhea. The study population comprised 154 unrelated female patients with clinical diagnosis of dysmenorrhea, and a total of 144 control subjects were recruited consecutively. The MIF -173G > C promoter polymorphism (rs755622) and TNF gene -308G > A (rs1800629) polymorphism were analyzed by polymerase chain reaction-based restriction fragment length polymorphism assay. Two fragments (268 and 97 bp) were seen when the G allele was present at position -173, and three fragments (206, 97, and 62 bp) were observed when the C allele was present. Two fragments (87 and 20 bp) were seen when G allele was present at position -308. There were statistically significant associations between age at menarche and history of back pain among dysmenorrhea patients and MIF gene -173G > C polymorphism (p = 0.003 and p = 0.042, respectively). The genotype and allele frequencies of -308G > A polymorphism showed statistically significant differences between dysmenorrhea patients and controls (p = 0.023 and p = 0.009, respectively). A high association was also observed when the patients were compared with the controls according to the GG genotype versus GA+AA genotypes (p = 0.009). The present study showed that the TNF-α -308 GG genotype may be a useful tool to predict the susceptibility of dysmenorrhea.

The importance of MTHFR C677T/A1298C combined polymorphisms in pulmonary embolism in Turkish population.

BACKGROUND AND OBJECTIVE: Pulmonary embolism (PE) is an important cardiovascular emergency with high mortality. There are still problems related to the diagnosis of PE and genetic research may play a key role on diagnosis as well as determining risk stratification. In the present study, the aim was to evaluate MTHFR C677T and A1298C polymorphisms that play a role on folate metabolism in PE patients. MATERIALS AND METHODS: A total of 118 PE patients and 126 controls were enrolled in the current study. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) analyses for the MTHFR C677T and A1298C polymorphisms. RESULTS: There was no association between clinical and demographic characteristics of PE patients and both MTHFR C677T and A1298C polymorphisms. Allele frequencies showed a significant difference between patients and controls. T allele frequency was significantly higher in the patients' group than the control group. There was an association between PE and combined MTHFR C677T and A1298C polymorphisms. CONCLUSION: We found an association between MTHFR C677T/A1298C combined mutations and PE in the Turkish population. Future genetic studies investigating combined mutations could be very helpful to identify risk population in PE.

Effects of leptin and leptin receptor gene polymorphisms on lung cancer.

Leptin (LEP), an adipocyte-derived cytokine, has been reported to participate in carcinogenesis. Elevated levels of systemic and pulmonary LEP are associated with diseases related to lung injury and lung cancer. The purpose of the present study was to investigate if the LEP and leptin receptor (LEPR) gene polymorphisms are associated with lung cancer in a cohort of Turkish population. One hundred and sixty-two lung cancer patients and 130 healthy controls were included in the study. The genotypes of LEP gene -2548G > A and LEPR gene Q223R polymorphisms were determined using polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP) analysis. The genotype frequencies of LEP -2548G > A polymorphism showed statistically significant differences between lung cancer patients and controls (p = 0.007). GA + AA genotypes and A allele of LEP -2548G > A polymorphism was found to be susceptibility factors for lung cancer (p = 0.003, odds ratio (OR) 2.32, 95 % confidence interval (CI) 1.32-4.10; p = 0.003, OR 1.65, 95 % CI 1.18-2.29, respectively). The genotype and allele frequencies of LEPR Q223R polymorphism did not show any statistically significant differences between lung cancer patients and controls (p = 0.782 and p = 0.762, respectively). Although AA-QQ and AA-QR combined genotypes of LEP -2548G > A-LEPR Q223R loci were significantly higher in lung cancer patients (p = 0.020 and p = 0.047, respectively), GG-QQ, GG-QR, and AA-RR combined genotypes were significantly higher in control group. As a result, susceptibility effects of LEP -2548G > A polymorphism alone or in combination with LEPR Q223R polymorphism on lung cancer were observed. Further studies are necessary to prove the association of LEP and LEPR gene polymorphisms with lung cancer.

Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever.

1. Familial Mediterranean fever (FMF) is considered an autosomal recessive disorder, associated with a single gene named Mediterranean fever (MEFV). The aim of this study was to perform genotyping and haplotyping analysis of the multidrug resistance (ATP-binding cassette, subfamily B, member 1 - ABCB1) gene in FMF patients. 2. Three ABCB1 gene polymorphisms (C1236T, G2677T/A and C3435T) were analyzed in 309 FMF patients and 250 healthy control subjects. All subjects were genotyped by PCR-restriction fragment length polymorphism analysis, and statistical analysis was performed using the Arlequin 3.1.1 and SPSS 16.0 software packages. 3. The CT genotype frequency of the C3435T polymorphism (p = 0.003), the CT-GT-CT (C1236T-G2677T/A-C3435T) triple genotype (p = 0.001) and the C-G (C1236T-G2677T/A) haplotype (p = 0.030) were more common in the FMF patients. The CT-GG-CC triple genotype and T-G-C, C-T-T and T-G-T haplotypes (C1236T-G2677T/A-C3435T) were higher in the control subjects (p = 0.011, 0.001, 0.009 and 0.000, respectively). The CT-GG binary genotype and C-T and T-G haplotypes for C1236T-G2677T/A polymorphisms may have a high degree of protective effect against FMF (p = 0.0005, 0.002 and 0.000, respectively). 4. Our study showed that genotypes and haplotypes of ABCB1 gene polymorphisms may affect patients' FMF susceptibility.

Clinical symptoms in fibromyalgia are associated to catechol-O-methyltransferase (COMT) gene Val158Met polymorphism.

1. Fibromyalgia syndrome (FMS) is a common chronic widespread pain syndrome mainly affecting women. The aim of this study was to explore the frequency and clinical significance of catechol-O-methyltransferase (COMT) gene Val158Met polymorphism in a large cohort of Turkish patients with FMS. 2. The study included 379 FMS patients and 290 controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses. 3. The genotype frequencies of Val158Met polymorphism showed a small difference between FMS patients and healthy controls (p = 0.047), however, the Met/Met genotype was significantly higher in FMS patients than healthy controls (p = 0.016). No difference was observed for allele frequencies between two groups. Stratification analysis according to clinical features for this disease reveals that weight, FMS Impact Questionnaire score, algometry and Raynaud's syndrome, were detected to have statistically significant associations with Val158Met polymorphism (p = 0.037, p = 0.042, p = 0.039 and p = 0.033, respectively). Pain sensitivity, measured by algometry, was statistically higher in patients with Met/Met genotype than the patients with Val/Val and Val/Met genotypes (p = 0.017). 4. The results of this study suggested that COMT gene Val158Met polymorphism is positively associated with FMS and play a relevant role in the clinical symptoms of the disease.

Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers.

OBJECTIVES: Recurrent aphthous stomatitis (RAS) is a common ulcerative disease of the oral mucosa. Methylenetetrahydrofolate reductase (MTHFR) gene variants are associated with thrombophilia and vasculopathy that may result in oral ulceration. Oral ulcers are also the most common feature of Behcet's disease (BD). Association of MTHFR gene C677T mutation with BD has been reported in different populations. The aim of the present study was to investigate the possible association between MTHFR gene C677T mutation and RAS and evaluate if there was an association with clinical features in a relatively large cohort of Turkish patients. MATERIALS AND METHODS: The study included 188 patients affected by RAS and 200 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MTHFR gene C677T mutation. RESULTS: The genotype and allele frequencies of C677T mutation showed statistically significant differences between RAS patients and controls (p = 0.002 and p = 0.0004, respectively). After stratifying RAS patients according to clinical characteristics of oral ulcers, a significant association was observed between C677T mutation and number of oral ulcers of RAS patients (p = 0.006). CONCLUSIONS: As a result, a high association between MTHFR gene C677T mutation and RAS was observed in the present study. Also number of oral ulcers was found to be associated with MTHFR C677T mutation in RAS patients. CLINICAL RELEVANCE: If our observation can be substantiated with further studies, evaluation for MTHFR mutations and perhaps folate supplementation may become necessary in selected patients.

MEFV gene pathogenic variants: a risk factor for dysmenorrhea in the Turkish population.

BACKGROUND/AIM: The Mediterranean fever (MEFV) gene codes for protein pyrin, which is among the modulators of inflammasome activity in innate immune cells. It was suggested that there is a relation between MEFV variations and inflammatory diseases. The aim of this study was to investigate MEFV gene variations in the patients with primary dysmenorrhea. METHODS: The prevalence of common MEFV gene variations (M694V, M680I, V726A, E148Q and R202Q) was investigated in 145 young women with primary dysmenorrhea and 135 unrelated healthy controls. MEFV gene variations were genotyped using PCR-based RFLP assay. RESULTS: Number of childbirth and marriage were significantly lower in the study group than the controls, respectvely (p < 0.001, p = 0.001). Family history was statistically higher in the patient group (p < 0.001). In total, MEFV genotype and allele frequencies were significantly higher in patients than controls, respectively (p = 0.008 and p = 0.005, respectively). It was found that MEFV gene E148Q allele was more common in patient group (p = 0.039). MEFV R202Q A allele was higher in the patients than the controls (p = 0.045). A significant association was observed when the patients were compared with the controls according to R202Q variant AA versus GG+GA genotypes (p=0.020). CONCLUSION: Our findings suggest that MEFV variations may be a risk factor for patients with dysmenorrhea in a Turkish cohort.HighlightsThere are very few studies in the literature regarding the relationship between pathological variants of MEFV and dysmenorrhea disease.The common MEFV mutations/variants were evaluated in primary dysmenorrhea patients.Family history was statistically higher in the patient group (p <.001).MEFV gene variations were found 52 (35.9%) in patients and 29 (21.5%2) in controls.MEFV gene allele frequency was significantly higher in-patient group than control (p =.005).

Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy.

PURPOSE: Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. Methylenetetrahydrofolate reductase (MTHFR) gene variants have been associated with vasculopathy that has been linked to diabetic neuropathy. The aim of the present study was to investigate the possible association between MTHFR gene C677T mutation and DPN and evaluate if there is an association with clinical features in a relatively large cohort of Turkish patients. METHODS: The study included 230 patients affected by DPN and 282 healthy controls. Genomic DNA was isolated and genotyped using the polymerase chain reaction-based restriction fragment length polymorphism assay for the MTHFR gene C677T mutation. RESULTS: The genotype and allele frequencies of the C677T mutation showed statistically significant differences between the patients with DPN and the controls (p=0.003 and p=0.002, respectively). After the patients with DPN were stratified according to clinical and demographic characteristics, a significant association was observed between the C677T mutation and history of retinopathy (p=0.039). CONCLUSIONS: A high association between the MTHFR gene C677T mutation and DPN was observed in the present study. In addition, history of retinopathy was associated with the MTHFR C677T mutation in patients with DPN.

DD genotype of ACE gene I/D polymorphism is associated with Behcet disease in a Turkish population.

Behcet's disease (BD) is a chronic, multi-systemic and inflammatory disorder. The local renin-angiotensin system (RAS) in the vessel wall plays a role in the endothelial control and contributes to inflammatory processes. Angiotensin-converting enzyme (ACE) is the regulatory component of the RAS. This study was conducted in Turkish patients with BD to determine the frequency of I/D polymorphism genotypes of ACE gene. Genomic DNA obtained from 566 persons (266 patients with BD and 300 healthy controls). ACE gene I/D polymorphism genotypes were determined using polymerase chain reaction using I and D allele-specific primers. There was statistically significant difference between the groups with respect to genotype distribution (p < 0.001). This study is the largest study in Turkish population that ACE gene I/D polymorphism investigated in BD. As a result of this study, ACE gene I/D polymorphism DD genotype could be a genetic marker in BD in Turkish study population.

Dual effect of methylene-tetrahydrofolate reductase and angiotensinconverting enzyme gene polymorphisms on the risk of acute ischemic stroke.

Ischemic stroke, a prevalent neurological disease, is the major reason of serious disability and death worldwide. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms increase homocysteine levels which also raise the risk of vascular diseases. Angiotensin-converting enzyme (ACE) gene polymorphisms can cause vascular reorganization and disrupt arterial wall stability. The aim of this study was to explore how the MTHFR and ACE gene polymorphisms are related to acute ischemic stroke. A total of 200 individuals (102 acute ischemic stroke patients and 98 healthy controls) were included in this case-control research. MTHFR gene C677T (rs1801133) and A1298C (rs1801131) polymorphisms were studied through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays, ACE gene I/D polymorphism (rs1799752) was studied by PCR. The MTHFR C667T and ACE I/D polymorphisms did not show any statistically meaningful differences between healthy controls and acute ischemic stroke patients (P>0.05). However, compared to healthy controls, acute ischemic stroke patients had almost nine-fold higher prevalence of the CC genotype based on the MTHFR A1298C polymorphism (P=0.024, OR=8.8, 95%Cl=1.27-208.2). Additionally, individuals with acute ischemic stroke had greater frequencies of the combined genotypes of MTHFR and ACE gene polymorphisms in the forms of CC/CC (C667T/A1298C), CC/ DD (A1298C/ACE I/D) and CC/CC/DD (C677T/A1298C/ACE I/D) (P = 0.027, P = 0.015 and P = 0.037, respectively). A statistically significant correlation was assessed between MTHFR gene A1298C polymorphism and acute ischemic stroke. Additionally, it was discovered that the genotype combinations of CC/CC (C667T/A1298C), CC/DD (A1298C/ACE I/D) and CC/CC/DD (C677T/A1298C/ ACE I/D) have risk-increasing effects on acute ischemic stroke. To employ these genetic variations as alternative treatments for ischemic stroke, these findings should be validated by more research.

Impact of methylene-tetrahydrofolate reductase gene C677T and A1298C polymorphisms as a risk factor for hepatitis B virus infection.

Chronic hepatitis B infection caused by Hepatitis B virus (HBV), influences over two billion people worldwide despite having an effective vaccine. With a total prevalence of 4.57%, there are 3.3 million estimated HBV carriers in Türkiye. Methylene-tetrahydrofolate reductase (MTHFR) arrange folate metabolism through nucleic acid synthesis and DNA methylation. C677T (rs1801133, p.Ala222Val) and A1298C (rs1801131, p.Glu429Ala) polymorphisms of MTHFR gene have effect of reducing the activity of enzyme. We purposed to investigate the correlation between C677T and A1298C polymorphisms of MTHFR gene with HBV infection in a Turkish population. One hundred eighteen HBV-infected participants and ninety healthy controls were incorporated in this research. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was applied to discover the genotypes of MTHFR polymorphisms. We demonstrated that T allele and CT + TT genotype frequencies of C677T polymorphism were significantly increased in HBV-infected participants than healthy controls [p = 0.015, OR (95% Cl) = 1.7 (1.11-2.79) and p = 0.020, OR (95% Cl) = 1.9 (1.10-3.42), respectively). No significant associations were noted concerning the A1298C polymorphism (p > 0.05). CC-AA composite genotype was observed to be significantly elevated in healthy controls than HBV-infected participants (32.2% vs. 13.6%, p = 0.001). In addition, the frequency of T-C haplotype was found to be considerably higher in the patient group than control group (15.8% vs 11.8%, p = 0.018). In conclusion, we found that T allele of C677T polymorphism poses a risk factor for HBV infection. We also discovered a protective impact of the CC-AA composite genotype against HBV infection and a risk effect of the T-A haplotype for HBV-infection.

The effects of circulating MIR22-3p and MIR16-1-3p levels in different stages of subacute thyroiditis.

Subacute thyroiditis (SAT) is an inflammatory thyroid disease with a frequency is 5% among all thyroid diseases. miRNAs are endogenous, non-coding RNAs ranging in length from 19 to 25 nucleotides. They play an important role in the posttranscriptional regulation of gene expression. In this study, we aimed to investigate whether the expression levels of two circulating miRNAs, MIR22 and MIR16-1, can be used as a parameter in the diagnosis and follow-up of SAT disease. Fifty patients diagnosed with SAT and 41 healthy controls were included in this study. Expression levels of miRNAs were determined by real time-PCR method. Expression data of miRNAs were calculated by fold change (2-ΔΔCt) method. The statistical significance of miRNA expression was evaluated by t-test. The expression levels of MIR22-3p and MIR16-1-3p were not found to be statistically different between SAT patients and controls and also between the patients in different stages (hyperthyroid, euthyroid, and hypothyroid) of the disease. According to correlation analyses, we observed a positive strong correlation between erythrocyte sedimentation rate (ESR) and the expression levels of MIR22-3p and MIR16-1-3p (r = 0.960, p = 0.000 and r = 0.865, p = 0.006, respectively), and a positive strong correlation between fT4 and the expression levels of MIR22-3p in SAT patients in euthyroid stage (r = 0.712, p = 0.047). In this study, we showed that the expression levels of MIR22-3p and MIR16-1-3p have correlation with clinical characteristics of SAT disease. Our results suggest that MIR22 and MIR16-1 may be effective in the pathogenesis of SAT.

Association between the methylene tetrahydrofolate reductase gene C677T mutation and colchicine unresponsiveness in Behcet's disease.

PURPOSE: Behcet's disease (BD) is a multisystemic immunoinflammatory disorder characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The common methylene tetrahydrofolate reductase (MTHFR) gene C677T mutation is a known risk factor for thrombosis. The aim of this study was to investigate the MTHFR gene C677 mutation in patients with BD and evaluate if there was an association with clinical features, especially thrombosis, in a relatively large cohort of patients with BD. METHODS: The study included 318 patients with BD and 207 healthy controls. Genomic DNA was isolated and genotyped using PCR-based restriction fragment length polymorphism assay for the MTHFR gene C677T mutation. RESULTS: The genotype and allele frequencies of the C677T mutation showed a statistically significant difference between BD patients and controls (p=0.003 and p=0.001, respectively). There was also a significant association between C677T alteration and response to colchicine in BD patients (p=0.046). CONCLUSIONS: The results of this study showed that there was a high association between the MTHFR gene C677T mutation and BD. Stratification analysis according to clinical features for this disease did not reveal an association except response to colchicine that was shown to be influenced by the MTHFR C677T mutation.

Methylene-tetrahydrofolate reductase gene C677T and A1298C polymorphisms as a risk factor for Crimean-Congo hemorrhagic fever.

Crimean-Congo hemorrhagic fever (CCHF) is a deadly viral disease. Methylene-tetrahydrofolate reductase (MTHFR) has an important role in folate metabolism, and also in the formation of new cells, DNA synthesis, repair and methylation. We aimed to examine the relationship between MTHFR gene C677T (Ala222Val, rs1801133) and A1298C (Glu429Ala, rs1801131) polymorphisms with CCHF in a Turkish population. Totally 273 participants were included in the current study. One hundred forty-one participants were CCHF patients and one hundred thirty-two participants were healthy controls. The polymerase chain reaction (PCR) and further restriction fragment length polymorphism (RFLP) assays were applied to determine the genotypes of MTHFR polymorphisms. We did not find any differences between the CCHF patients and healthy controls in terms of allele and genotype distributions of both the C677T and A1298C polymorphisms. In composite genotype analysis between different groups, the frequency of CT-AA composite genotype, which is formed by C677T-A1298C polymorphisms, was found to be significantly higher in Mild CCHF patients compared to both Severe CCHF patients and controls (p = 0.036 and p = 0.008, respectively). In conclusion, in this study, we found a relationship between CCHF and MTHFR gene polymorphisms. CT-AA composite genotype of MTHFR gene C677T and A1298C polymorphisms showed a predisposition to Mild CCHF.

Influence of ESR1 Variants on Clinical Characteristics and Fibromyalgia Syndrome in Turkish Women.

BACKGROUND: Fibromyalgia syndrome (FMS) is characterized by widespread musculoskeletal pain. It is more common in women than in men, and sex hormones may play a role in this predominance. Therefore, this research investigated the clinical findings among Turkish females and whether Estrogen-α (ESR1) gene variants are associated with FMS. METHODS: A total of 219 individuals were enrolled in this study. ESR1 variants (PvuII/XbaI) were genotyped using PCR-RFLP methods. The results of the analyses were evaluated for statistical significance. RESULTS: There was a significant association between the ESR1 PvuII and FMS risk among Turkish women. The ESR1 PvuII CC genotype and C allele were higher in the patients than those in the controls (p=0.021, p=0.007, respectively). A more statistically significant association was observed between the patients and the controls in terms of TT genotype vs. TC+CC genotypes (p=0.022). Also, there was a statistically significant association between the patients and the controls in terms of TT+TC genotype vs. CC genotypes (p =0.028). There was no significant association between patients and the control group concerning the genotype distribution and allele frequencies of ESR1 XbaI (p>0.05). Headache was seen more frequently in the XbaI GA genotype (p=0.025), while XbaI AA genotype was associated with dysmenorrhea in patients with FMS (p=0.041). CONCLUSION: Our results indicate that ESR1 PvuII/XbaI variants are possibly effective in the development of FMS and some clinical features.