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1.
Artigo em Inglês | MEDLINE | ID: mdl-39162052

RESUMO

Obesity is a common public health problem associated with serious, life-threatening complications. MicroRNAs (miRs) have modulating roles in the immune and inflammatory systems. Therefore, this study aimed to analyze the relationship between miR-146a and morbid obesity (MO) in a Turkish population. In this study, a total of 258 subjects (110 patients with MO and 148 controls) were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze miR-146a rs2910164. Then, we examined the patients as males and females separately. The results of the analyses were evaluated for statistical significance. There was a significant difference in genotype and allele frequencies of miR-146a rs2910164 between patients with MO and control individuals. miR-146a rs2910164 CC genotype and C allele were shown to increase in the MO patients' group compared to the control group (p = 0.000, p = 0.000, respectively). Also, the C allele was higher in both female and male patients compared to controls (p = 0.000, p = 0.000, respectively). High differences were also observed when the patients and the controls were compared according to CC versus GG + GC and GG versus GC + CC (p = 0.000, p = 0.000, respectively). A significant difference was found between the female/male patients and the female/male controls in terms of GG + GC versus CC (p = 0.000, p = 0.000, respectively). To the best of our knowledge, this is the first study to investigate the relationship between this variant and MO in Turkey. Our results showed that miR-146a rs2910164 is a valuable biomarker that can be used to distinguish between patients with MO and the healthy population. The findings can be extended by increasing the sample sizes with diverse ethnicities.

2.
Artigo em Inglês | MEDLINE | ID: mdl-39210720

RESUMO

The coronavirus disease 2019 (COVID-19) is a recent pandemic occurring worldwide due to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus, spreading mainly through large respiratory droplets or maybe through other transmission routes. The human genome has the most varied immune response genes correlated with infectious diseases. Genetic variants of mannose-binding lectin 2 (MBL2), an immunomodulatory gene, were associated with the risk, severity, and frequency of viral infections. In the present study, we hypothesized that the MBL2 gene rs1800450 variant could be associated with the development of COVID-19 disease in a Turkish population. Ninety-eight COVID-19 patients and 98 healthy, ethnically matched controls were studied. We isolated genomic DNA from whole blood and analyzed the MBL2 rs1800450 using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Associations were analyzed with the SPSS 20 statistical software. We found that MBL2 rs1800450 genotype distribution was significantly different between patients and controls. The patients had a higher MBL2 rs1800450 AA genotype than the controls had (4.94% in patients vs. 3.12% in controls, p = 0.006). The subjects carrying AA genotype had a 10.83-fold increased risk for COVID-19 disease (OR = 10.83, %95 CI = 1.359-86.349). We could not detect any significant difference between the COVID-19 patients and healthy controls in allele frequencies. Our findings demonstrated that the MBL2 rs1800450 BB genotype might increase the susceptibility to COVID-19 disease in the Turkish population. We suggest further studies with a larger sample size and other ethnic populations.


Complement activation is involved in the pathogenesis of cardiovascular diseases through pleiotropic effects on inflammatory processes, endothelial and hematopoetic cell function, and hemostasis.MBL is a serum protein dependent on calcium that is effective in the innate immune response and binds to carbohydrates on the surface of several pathogens, activating the complement system or serving directly as an opsonin.It was found that COVID-19 patients had a higher MBL2 gene rs1800450 AA genotype than the controls.

3.
Rev Assoc Med Bras (1992) ; 70(6): e20231020, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39045947

RESUMO

OBJECTIVE: The aim of this study was to evaluate the vitamin D receptor (VDR) BsmI variant in morbidly obese patients compared with healthy normal controls. METHODS: The study included 103 patients with morbid obesity and 120 healthy individuals serving as normal controls. The DNA samples obtained from blood were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The gender, age, smoking status, triglycerides, total cholesterol, insulin, mean body mass index, and frequency of allele and genotype of the BsmI variant in the VDR gene in morbidly obese patients were evaluated. RESULTS: The body mass index of the patients was 47.14 ± 7.19. The VDR B/B, B/b, and b/b genotype frequencies were 27.2% versus 28.3%; 54.4% versus 50%; and 18.4% versus 21.7% in the morbidly obese patients and the control group, respectively. There was no statistically significant difference between patients and control subjects in the genotype and allele distribution of the VDR BsmI variant (p>0.05). Both patients and control genotype frequencies are consistent with Hardy-Weinberg equilibrium. CONCLUSION: The BsmI variant in the VDR gene may not seem to predispose to morbid obesity in our study population. Further studies with a larger number of subjects are needed to make a more precise evaluation of this relationship.


Assuntos
Índice de Massa Corporal , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Obesidade Mórbida , Polimorfismo de Fragmento de Restrição , Receptores de Calcitriol , Humanos , Receptores de Calcitriol/genética , Obesidade Mórbida/genética , Masculino , Feminino , Adulto , Estudos de Casos e Controles , Pessoa de Meia-Idade , Frequência do Gene/genética , Polimorfismo de Fragmento de Restrição/genética , Predisposição Genética para Doença/genética , Reação em Cadeia da Polimerase , Fatores de Risco , Alelos
4.
Rev Assoc Med Bras (1992) ; 70(3): e20231000, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38655997

RESUMO

OBJECTIVE: Obesity is an increasingly prevalent global health problem, which is generally caused by the increase in body fat mass above normal and observed in all societies. If the blood glucose level is higher than normal but not high enough to diagnose diabetes, this condition is defined as prediabetes. Adiponectin increases fatty acid oxidation and insulin sensitivity and is closely associated with obesity. One of the nuclear receptor superfamily member peroxisome proliferator-activated receptors is shown to have an important role in various metabolic reactions. This study aimed to investigate the serum levels of adiponectin and peroxisome proliferator-activated receptors-gamma parameters, which are closely related to adipose tissue, energy metabolism, and insulin sensitivity, in obese patients with and without prediabetes. METHODS: For this purpose, 52 obese patients with prediabetes, 48 obese patients with non-prediabetes, and 76 healthy individuals were included in this study. Serum adiponectin and peroxisome proliferator-activated receptors-γ levels were analyzed by ELISA. RESULTS: Serum adiponectin levels were significantly higher in obese patients with prediabetes (18.15±15.99) compared with the control group (15.17±15.67; p=0.42). No significant difference was observed in both adiponectin and peroxisome proliferator-activated receptors-γ levels in the obese patients with the non-prediabetes group compared with the control group. However, no significant difference was observed in the obese patients with prediabetes group and obese patients with non-prediabetes group. CONCLUSION: Our results suggest that adiponectin may serve as an indicator of prediabetes. This implies that examining adiponectin levels in individuals diagnosed with prediabetes may enhance our understanding of the metabolic processes closely linked to prediabetes and related conditions.


Assuntos
Adiponectina , Obesidade , PPAR gama , Estado Pré-Diabético , Humanos , Estado Pré-Diabético/sangue , PPAR gama/sangue , Obesidade/sangue , Obesidade/complicações , Adiponectina/sangue , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Estudos de Casos e Controles , Índice de Massa Corporal , Ensaio de Imunoadsorção Enzimática , Glicemia/análise , Resistência à Insulina/fisiologia
5.
Artigo em Inglês | MEDLINE | ID: mdl-37787093

RESUMO

BACKGROUND: Coronavirus disease 2019 (COVID-19) is a multisystem disease of global significance. Interleukin (IL)-6 is a soluble cytokine with a pleiotropic effect on inflammation and the immune response. OBJECTIVES: Investigate the relationship between the interleukin 6 (IL6) rs1800795 variant and IL6 level in Turkish patients with COVID-19 disease. DESIGN: Prospective cohort study. SETTING: Tertiary care hospital. PATIENTS AND METHODS: Real-time polymerase chain reaction (RT-PCR)-positive and/or chest computerized tomography (CT) scan-compatible COVID-19 patients were enrolled in the study. The clinical data and whole blood samples were collected from April 1, 2020, to August 1, 2020. IL6 rs1800795 genotyping was performed by the PCR-restriction fragment-length polymorphism (RFLP) method in 148 patients. Serum IL-6 concentrations were measured using the ELISA method in 89 patients. We evaluated the patients in three groups: asymptomatic, symptomatic, and intensive care unit patients. MAIN OUTCOME MEASURES: IL6 rs1800795 genotype frequencies and serum IL-6 levels in COVID-19 patients with different clinical presentations. SAMPLE SIZE: 148 cases. RESULTS: IL6 rs1800795 GG genotype and G allele frequency increased in PCR positive patients compared to PCR-negative patients (p ˂ 0.000). IL6 rs1800795 GC genotype and C allele frequency were lower in PCR-positive patients than in PCR-negative patients. IL6 rs1800795 GG genotype and G allele frequency were higher in asymptomatic patients than in the symptomatic and intensive care unit groups. The IL6 rs1800795 C allele frequency was lower in asymptomatic patients than in the symptomatic and intensive care unit groups. IL6 rs1800795 GG genotype and G allele frequency were higher in CT negative patients than CT positive patients, while IL6 GC genotype and C allele frequency were higher in CT positive patients than negative patients. IL6 level elevation was seen in the asymptomatic patients compared to the symptomatic and intensive care unit groups. CONCLUSIONS: These findings suggest that IL6 rs1800795 may contribute to the susceptibility of COVID-19 in people to Turkish origin. LIMITATIONS: Further large-scale studies in different genetic populations are needed as this is a single-center, prospective study.


Assuntos
COVID-19 , Interleucina-6 , Humanos , COVID-19/genética , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Interleucina-6/genética , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos
6.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 70(6): e20231020, 2024. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1565028

RESUMO

SUMMARY OBJECTIVE: The aim of this study was to evaluate the vitamin D receptor (VDR) BsmI variant in morbidly obese patients compared with healthy normal controls. METHODS: The study included 103 patients with morbid obesity and 120 healthy individuals serving as normal controls. The DNA samples obtained from blood were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The gender, age, smoking status, triglycerides, total cholesterol, insulin, mean body mass index, and frequency of allele and genotype of the BsmI variant in the VDR gene in morbidly obese patients were evaluated. RESULTS: The body mass index of the patients was 47.14 ± 7.19. The VDR B/B, B/b, and b/b genotype frequencies were 27.2% versus 28.3%; 54.4% versus 50%; and 18.4% versus 21.7% in the morbidly obese patients and the control group, respectively. There was no statistically significant difference between patients and control subjects in the genotype and allele distribution of the VDR BsmI variant (p>0.05). Both patients and control genotype frequencies are consistent with Hardy-Weinberg equilibrium. CONCLUSION: The BsmI variant in the VDR gene may not seem to predispose to morbid obesity in our study population. Further studies with a larger number of subjects are needed to make a more precise evaluation of this relationship.

7.
Artigo em Inglês | MEDLINE | ID: mdl-36973934

RESUMO

The course of coronavirus disease-2019 (COVID-19) differs from person to person. The relationship between the genetic variations of the host and the course of COVID-19 has been a matter of interest. In this study, we investigated whether Angiotensin-Converting Enzyme (ACE) ID, Methylenetetrahydrofolate Reductase (MTHFR) C677T, and Macrophage Migration Inhibitory Factor (MIF)-173GC variants are risk factors for the clinical course of COVID-19 disease in Turkish patients. One hundred COVID-19 patients were included in the study. The diagnosis of COVID-19 was made using Reverse Transcription Polymerase Chain Reaction (RT-PCR) and Chest Computed Tomography (CT). The patients were evaluated in 3 groups: intensive care, service, and outpatient treatment. ACE ID, MTHFR C677T, and MIF-173GC variants were genotyped by PCR-Restriction Fragment Length Polymorphism (RFLP) methods. When the genotype distribution between the groups was examined, it was found that the frequency of the ACE DD genotype and the D allele was higher in the intensive care group compared to the hospitalized and outpatient groups. MTHFR C677T CT genotype T allele and MIF-173GC, CC genotype C allele were more prevalent in the intensive care group compared to other groups. Patients with PCR-positive results had a higher MTHFR C677T C/C genotype and C allele. In CT-positive patients, the MTHFR C677T CT genotype and the MIF-173GC, G allele were more common. It is predicted that genetic predisposition may contribute to COVID-19 morbidity and mortality. Our results show that ACE ID, MTHFR C677T, and MIF-173GC variants affect the course of COVID-19 disease in the Turkish population.


Assuntos
COVID-19 , Fatores Inibidores da Migração de Macrófagos , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Fatores Inibidores da Migração de Macrófagos/genética , COVID-19/genética , Genótipo , Predisposição Genética para Doença , Oxirredutases Intramoleculares/genética
8.
Artigo em Inglês | MEDLINE | ID: mdl-35924736

RESUMO

Osteoarthritis (OA) is a complex disorder characterized by degenerative articular cartilage in which inflammatory mechanisms play a major role in the pathogenesis. Interleukin-6 (IL6), a multifunctional cytokine, can trigger osteoclast differentiation and bone resorption. Our purpose in this study was to evaluate the association of IL-6 -174 G/C (rs1800795) and -572 G/C (rs1800796) variants with the susceptibility to OA. One hundred fifty OA patients and 150 healthy individuals were enrolled in the study. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene variants. The results of analyses were evaluated for statistical significance. The pain intensity was assessed using the Visual Analogue Scale (VAS). There was a statistically significant difference in the genotype and allele frequencies of the IL-6 -174 G/C variant between patients with OA and control groups (p = 0.001, p = 0.002, respectively). IL-6 -174 G/C GG genotype and G allele were more prevalent in patients with OA. We found that the IL-6 -572 G/C variant was not different between patients and controls in either genotype distribution and allele frequency. IL-6 174 G/C and -572 G/C loci GG-GG combined genotype was significantly higher in OA patients (p = 0.00). Our study suggests that there was a strong association between the IL-6 -174 G/C variant and OA in the Turkish population. Further studies on populations of different ethnic background are necessary to prove the association of IL-6 variants with OA.


Assuntos
Interleucina-6 , Osteoartrite do Joelho , Humanos , Interleucina-6/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Osteoartrite do Joelho/genética , Osteoartrite do Joelho/patologia , Genótipo , Frequência do Gene , Estudos de Casos e Controles
9.
Artigo em Inglês | MEDLINE | ID: mdl-36584289

RESUMO

The most common viral hemorrhagic fever is Crimean-Congo hemorrhagic fever (CCHF). Endothelial nitric oxide synthase (eNOS) gene polymorphisms have been linked to both hemorrhagic fevers and viral diseases. The study's goal is to evaluate if the eNOS gene 4a/4b and T786C polymorphisms are related to CCHF. The study included 54 CCHF RNA-positive patients and 60 control subjects. The Bosphore CCHF virus Quantification Kit v1 was used to obtain CCHF RNA, and the Magnesia 16 isolation device was used to isolate DNA (Anatolia Gene works, Turkey). Polymerase chain reaction and restriction fragment length polymorphism were used to genotype the samples. The frequency of the eNOS 4a/4a, 4a/4b, and 4 b/4b genotypes in patients and the control was 6.6% versus 1.7%, 37.0% versus 43.3%, and 57.4% versus 55%, respectively. 4a: 24.07% of patients and 23.33% of controls; and 4 b: 75.92% of patients and 76.66% of controls. The frequency of the eNOS-786 T/C, T/T, T/C, and C/C genotypes in patients and the control group was 35.2% versus 68.3%; 51.9% versus 26.73%; and 13.0% versus 5.0%, respectively. The allele and genotype frequencies of the eNOS T786C variant differ statistically between patients and the control (p < 0.05). The eNOS T786C variant could be a genetic determinant for susceptibility to CCHF. To our knowledge, this is the first study to figure out the association between eNOS gene T786C polymorphisms and CCHF disease.


Assuntos
Vírus da Febre Hemorrágica da Crimeia-Congo , Febre Hemorrágica da Crimeia , Humanos , Febre Hemorrágica da Crimeia/genética , Vírus da Febre Hemorrágica da Crimeia-Congo/genética , Predisposição Genética para Doença , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético , Genótipo
10.
Drug Chem Toxicol ; 45(5): 2123-2130, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33832387

RESUMO

Diabetes mellitus (DM) is a serious and common in the world health problem that leads to different complications. Changes in oxidative stress and antioxidant capacity play an important role in the pathogenesis of DM. The purpose of this study was to investigate ellagic acid (EA) treatment in diabetes induced testicular damage. In our study, 24 male Sprague Dawley rats were divided into four groups. Group 1: Control (n = 6), Group 2: EA (n = 6), Group 3: Diabet (n = 6), Group 4: Diabet + EA (n = 6). Diabetes was induced by intraperitoneal injection of streptozocin (STZ) (55 mg/kg) to group 3 and 4. EA was given 100 mg/kg/day group 2 and 4 for 35 days by oral gavage. We used that Hematoxylen-Eosin (H&E) and Johnsen's scoring to determine histological change. The terminal-deoxynucleoitidyl-transferase mediated nick end-labeling assay (TUNEL) was used for apoptosis. Oxidative stress markers were determined by qRT-PCR and immunexpression of Nrf2 was evaluated in testicular tissue. In conclusion, EA administration on the diabetes model has changed the histopathological features, apopotosis and oxidative stress marker genes in the testis and may have an effect on the reduction of diabetes induced testicular damage.


Assuntos
Diabetes Mellitus Experimental , Testículo , Animais , Diabetes Mellitus Experimental/induzido quimicamente , Diabetes Mellitus Experimental/tratamento farmacológico , Ácido Elágico/metabolismo , Ácido Elágico/toxicidade , Masculino , Estresse Oxidativo , Ratos , Ratos Sprague-Dawley , Estreptozocina/toxicidade
11.
Artigo em Inglês | MEDLINE | ID: mdl-32957896

RESUMO

BACKGROUND: Osteoporosis (OP) is the most common type of systemic bone disease characterized by low bone mass and micro-structure deterioration of bone tissue, with a consequent increase in bone fragility and fracture risk. Nitric oxide (NO), produced by the enzyme endothelial nitric oxide synthase (eNOS) in endothelial cells, has considerable effects on bone cell function. The objective of this case-control study was to investigate the potential association between the eNOS gene Variable Number Tandem Repeat (VNTR) variant and susceptibility of OP, in Turkish postmenopausal female patients. METHODS: One hundred and fifty female patients and 100 age-matched healthy females were enrolled in the present study. The eNOS gene VNTR variant was genotyped with a polymerase chain reaction (PCR) method. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of the association. RESULTS: The mean age of the patients was 60.32±8.65 years. It was found that the eNOS VNTR variant genotype and allele frequencies were not significantly different between the patient and control groups (p>0.05).


Assuntos
Óxido Nítrico Sintase Tipo III/genética , Osteoporose Pós-Menopausa/genética , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Pessoa de Meia-Idade , Repetições Minissatélites/genética , Osteoporose Pós-Menopausa/epidemiologia , Polimorfismo de Nucleotídeo Único , Pós-Menopausa/genética , Turquia/epidemiologia
12.
Artigo em Inglês | MEDLINE | ID: mdl-32282310

RESUMO

BACKGROUND/AIMS: Recurrent aphthous stomatitis (RAS) is one of the common oral inflammatory diseases. As immunological and genetic factors have been held responsible for the pathogenesis of RAS, the objective of this study was to determine whether the interleukin-1 receptor antagonist (IL-1Ra) gene variable number tandem repeat (VNTR) variant is a risk factor for the development of RAS in Turkish patients and to define its contribution to the increased risk. METHODS: The IL-1Ra VNTR variant was evaluated in 169 RAS patients and 171 healthy controls by the polymerase chain reaction (PCR) method. RESULTS: No statistically significant difference was found in the genotype distributions and allele frequencies of IL-1Ra VNTR variant between RAS patients and healthy controls. CONCLUSION: Lack of association between IL-1Ra VNTR variant and RAS could indicate that IL-1Ra has no significant role in the pathophysiology of RAS. However, it still appears to be very worthwhile to continue to search for cytokine gene variants in order to predict the development of such disease.


Assuntos
Proteína Antagonista do Receptor de Interleucina 1/genética , Repetições Minissatélites , Estomatite Aftosa/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Repetições Minissatélites/genética , Polimorfismo de Nucleotídeo Único , Recidiva , Estomatite Aftosa/epidemiologia , Turquia/epidemiologia
13.
J Clin Lab Anal ; 33(1): e22641, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30129153

RESUMO

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.


Assuntos
Predisposição Genética para Doença/genética , Linfotoxina-alfa/genética , Transtornos da Articulação Temporomandibular/genética , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição/genética , Transtornos da Articulação Temporomandibular/epidemiologia , Turquia/epidemiologia , Adulto Jovem
14.
Iran J Kidney Dis ; 12(3): 150-155, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29891744

RESUMO

INTRODUCTION: The most important complication of familial Mediterranean fever (FMF) is secondary amyloidosis, which can lead to kidney failure. Genetic variability in the genes of various components of the renin-angiotensin system may play a role in the pathogenesis of the kidney disorders.  The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) gene I/D variant and risk of developing FMF-related amyloidosis in Turkish patients. MATERIALS AND METHODS: A total of 240 individuals consisting of 40 patients with FMF-related amyloidosis, 100 FMF patients without amyloidosis, and 100 healthy controls were recruited. For all of the participants, ACE I/D variant was detected by the polymerase chain reaction using specific primers. RESULTS: A significant difference was found between the patients with FMF-related amyloidosis and the control group as for genotype distribution of ACE I/D variant (P < .05). The ACE D/D and I/D genotypes were more frequent in the patients with FMF-related amyloidosis while the I/I genotype was less frequent in the same patients. The FMF patients (with and without amyloidosis) had significantly higher percentages of the D/D and I/D genotypes than the healthy controls (P < .05). Comparison between the subgroups of FMF patients, divided into those with and without amyloidosis, yielded a significant correlation according to ID+II versus DD genotypes (P < .03, odds ratio, 3.24; 95% confidence interval, 1.05 to 12.01).  Conclusions. Based on these observations, the ACE I/D variant D/D genotypes implicate a possible risk in the FMF-related amyloidosis among Turkish population.


Assuntos
Amiloidose/genética , Febre Familiar do Mediterrâneo/complicações , Mutação INDEL , Peptidil Dipeptidase A/genética , Adolescente , Adulto , Alelos , Amiloidose/etiologia , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Nefropatias/etiologia , Masculino , Sistema Renina-Angiotensina/genética , Turquia , Adulto Jovem
15.
Med Princ Pract ; 27(3): 285-289, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29669352

RESUMO

OBJECTIVE: The aim of the present study was to investigate any possible association between the macrophage migration inhibitory factor (MIF) -173GC variant and Behçet's disease (BD) in a group of Turkish patients. SUBJECTS AND METHODS: A total of 111 patients with BD and 100 healthy controls were enrolled in this study. Genomic DNA was extracted from peripheral lymphocytes. The MIF -173GC variant was genotyped using polymerase chain reaction restriction fragment length polymorphism. The allele and genotype frequencies of patients and controls were compared using the χ2 test. RESULTS: A statistically significant difference in the distribution of the genotype was observed between BD patients and healthy controls. The homo-genotype CC was more prevalent in the patient group compared to the control group (p = 0.008, OR: 0.24, 95% Cl: 0.05-0.78). A significant association was observed when the patients were compared with the controls according to GG + GC versus CC ge-notypes (p = 0.003, OR: 1.21, 95% CI: 0.06-0.063). Allele frequencies of the MIF -173GC variant did not show any statistically significant difference between patients and controls. CONCLUSION: In this study, we conclude that the CC ge-notype of the MIF -173GC variant may be a risk factor in the pathogenesis of BD in the Turkish population. However, further studies with larger samples are needed to address the exact role of this variant in BD.


Assuntos
Síndrome de Behçet/genética , Genótipo , Oxirredutases Intramoleculares/genética , Fatores Inibidores da Migração de Macrófagos/genética , Polimorfismo de Fragmento de Restrição , Estudos de Casos e Controles , Feminino , Frequência do Gene , Técnicas de Genotipagem , Humanos , Masculino , RNA Mensageiro/genética , Turquia
16.
J Clin Lab Anal ; 32(2)2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28612927

RESUMO

BACKGROUND: Temporomandibular joint disorders (TMD) are a group of disorders involving temporomandibular joint and related structures. Interleukine-1 receptor antagonist (IL-1Ra) is an important anti-inflammatory molecule that competes with other interleukin-1 molecules. This study was designed to investigate the possible association of the IL-1Ra VNTR variant with the risk of TMD in the Turkish population. METHODS: Peripheral blood samples were collected from 100 patients with TMD (23 males, 77 females) and 110 healthy individuals (35 males, 75 females). Genotyping of IL-1Ra 86 bp VNTR variant was evaluated by gel electrophoresis after polymerase chain reaction (PCR). RESULTS: Our results show that there is a statistically significant difference between TMD patients and control group with respect to IL-1Ra genotype distribution and allele frequencies. 1.2, 1.4, and 4.4 genotypes were more common in patients, while 2.2 and 3.3 genotypes were rarer (P<.000). Frequency of alleles 1 and 4 was higher in patient groups (P<.000), whereas alleles 2 and 3 had a lower frequency in patients with TMD (P<.000). CONCLUSIONS: This is the first correlation study that evaluates the association between IL-1Ra gene VNTR variant and TMD. The VNTR variant related to IL-1Ra gene showed a strong pattern of association with TMD that may have a potential impact on disease counseling and management. Larger studies with various ethnicities are needed to establish the impact of IL-1Ra VNTR variant on risk of developing TMD.


Assuntos
Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Proteína Antagonista do Receptor de Interleucina 1/genética , Repetições Minissatélites/genética , Transtornos da Articulação Temporomandibular/epidemiologia , Transtornos da Articulação Temporomandibular/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Turquia/epidemiologia , Adulto Jovem
17.
J Clin Lab Anal ; 32(1)2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28370589

RESUMO

BACKGROUND: Carpal tunnel syndrome (CTS) is a common neurologic impairment caused by injury on the median nerve in the wrist, characterized by pain and loss of sensory. CTS usually occurs through three factors, such as a mechanical pressure on median nerve, immunologic changes, and oxidative stress. The aim of this study was to evaluate the influence of interleukin-1 receptor antagonist (IL-1Ra) and angiotensin-converting enzyme (ACE) I/D polymorphisms on the susceptibility of patients to the CTS. METHODS: One hundred fifty-eight patients with CTS and 151 healthy controls were enrolled in this study. Each patient was analyzed according to diseases symptoms, such as gender, a positive Tinel's sign, a positive Phalen maneuver, disease sides, EMG findings, and clinical stage. We applied the polymerase chain reaction (PCR) to determine the polymorphisms of IL-1Ra and ACE I/D. RESULTS: The statistically significant relation was not found between IL-1Ra, ACE I/D polymorphisms and CTS (respectively, P>.05; P>.05, OR: 1.51, CI: 0.82-1.61). Additionally, in the result of the statistical analysis compared with gene polymorphisms and clinical characteristics, we did not find any correlation (P>.05). CONCLUSIONS: Our findings showed that there are no associations of IL-1Ra and ACE I/D polymorphisms with susceptibility of a person for the development of CTS. So, it means that these polymorphisms do not create a risk for the development of CTS. Further studies with larger populations will be required to confirm these findings in different study populations.


Assuntos
Síndrome do Túnel Carpal/epidemiologia , Síndrome do Túnel Carpal/genética , Proteína Antagonista do Receptor de Interleucina 1/genética , Peptidil Dipeptidase A/genética , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético/genética
18.
J Matern Fetal Neonatal Med ; 30(4): 420-423, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27255296

RESUMO

OBJECTIVE: Levetiracetam is a new generation antiepileptic drug used in treatment of patients with epilepsy and has adverse effects on different tissues. We aimed to evaluate the apoptotic effects of levetiracetam exposure during pregnancy on liver and kidney tissues of rat pups. METHODS: We analyzed the newborn rat pups exposed to levetiracetam during prenatal period. Fifteen pregnant female rats were divided into three groups. The group 1 and 2 rats were treated with different doses of levetiracetam (25 mg/kg/d and 50 mg/kg/d, respectively) from gestational days 1-22 during pregnancy. Group 3 (control group) was treated with the same volume of saline. Apoptosis was evaluated by the terminal deoxynucleotidyltransferase-mediated dUTP nick-end labeling (TUNEL) method. Liver and kidney tissues from rat pups were used for investigation. RESULTS: The percent of TUNEL positive apoptotic cells in group 1 were 22 and 17.5 for kidney and liver, respectively. The percent of TUNEL positive apoptotic cells in group 2 were 20.9 and 20.9 for kidney and liver, respectively. The percent of TUNEL positive apoptotic cells in group 3 were 18.4 and 17.1, respectively, for kidney and liver. The apoptotic index was the same in kidney and liver tissues of all groups. CONCLUSION: Our results demonstrate that the prenatal exposure of levetiracetam has no apoptotic effects on liver and kidney of rat pups and, it has biosafety in pregnancy in terms of apoptosis. The first study evaluating the apoptotic effects on liver and kidney tissues following administration of levetiracetam during prenatal period.


Assuntos
Anticonvulsivantes/efeitos adversos , Apoptose/efeitos dos fármacos , Epilepsia/tratamento farmacológico , Rim/efeitos dos fármacos , Fígado/efeitos dos fármacos , Piracetam/análogos & derivados , Animais , Animais Recém-Nascidos , Distribuição de Qui-Quadrado , DNA Nucleotidilexotransferase/metabolismo , Feminino , Marcação In Situ das Extremidades Cortadas/métodos , Levetiracetam , Piracetam/efeitos adversos , Gravidez , Complicações na Gravidez , Distribuição Aleatória , Ratos , Ratos Sprague-Dawley
19.
Arch Oral Biol ; 74: 51-54, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27875792

RESUMO

OBJECTIVES: Recurrent aphthous stomatitis (RAS) is a common painful disorder affecting oral health, mucosa and overall quality of life. The etiopathogenesis of RAS remains unclear. RAS shows a large genetic diversity among the patients. In present study, we investigated whether CD40 gene rs4810485 and rs1883832 are associated with RAS and its clinical findings in Turkish patients. MATERIALS AND METHODS: Genomic DNA obtained from 387 individuals (160 patients with RAS and 227 healthy controls) were used in the study. CD40 gene rs4810485 and rs1883832 mutations were determined by using polymerase chain reaction with the specific primers. RESULTS: There was no statistically significant difference between the groups with respect to genotype and allele distribution (p>0.05, OR 0.94, 95% CI 0.70-1.28, OR 1.01 95% CI 0.75-1.37, respectively). Additionally, there was no statistically significant difference in the combined genotype analysis of CD40 gene rs4810485 and rs1883832 mutations (p>0.05). CONCLUSIONS: According to our results, we found that CD40 gene mutations are not associated with RAS. We are convinced that CD40 gene mutations do not predispose to develop RAS in Turkish population. To our knowledge, this is the first study regarding CD40 gene rs4810485 and rs1883832 mutations investigated in RAS patients.


Assuntos
Antígenos CD40/genética , Mutação , Estomatite Aftosa/genética , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Expressão Gênica , Frequência do Gene , Genoma Humano , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Úlceras Orais/genética , Úlceras Orais/fisiopatologia , Polimorfismo de Fragmento de Restrição , Estomatite Aftosa/complicações , Turquia
20.
Balkan Med J ; 33(6): 614-619, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27994913

RESUMO

BACKGROUND: Ankylosing spondylitis (AS) is a chronic inflammatory disease mainly affecting the spine and sacroiliac joints. Macrophage migration inhibitory (MIF) factor is a regulatory cytokine that inhibits random immune cell migration. MIF gene promoter polymorphisms play a role in the progression of several inflammatory disorders. AIMS: To investigate the relationship between the MIF gene -173 G/C single-nucleotide polymorphism (SNP) and AS. STUDY DESIGN: Cross-sectional study. METHODS: In this study, a total of 161 AS and 194 normal controls were recruited. The MIF gene -173 G/C SNP was analyzed by polymerase chain reaction using the restriction fragment length polymorphism method. RESULTS: There was no significant difference between groups in terms of genotype distribution (p>0.05). When wild-type G/G and G/C+C/C genotypes are compared in terms of clinical characteristics, there is a significant difference between the average age and the duration of disease in AS patients (p<0.05). CONCLUSION: No significant relationship between AS disease and MIF -173 G/C polymorphism was found. MIF -173 G/C polymorphism (C allele) may affect the time of onset and the duration of disease in AS patients.

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