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Objectives Genetic predisposition plays a role in the etiology of metabolic syndrome (MetS), an important health problem worldwide. Leptin (LEP), produced by adipose tissue, plays a crucial role in the development of MetS. In this study, we evaluated the effects of LEP and LEP receptor (LEPR) variants on clinical findings and risk of developing MetS in the Turkish population. Methods A total of 320 patients were included in the study, of whom 150 were patients with MetS and 170 were healthy controls. DNA was extracted from blood samples. LEP rs7799039 and LEPR rs1137101 variants were genotyped using the polymerase chain reaction–based restriction fragment length polymorphism method. The genotype distributions of these variants and clinical and laboratory findings were compared. Results The LEP rs7799039 GA and AA genotypes and A allele frequencies were higher in participants with MetS than in the control group. For LEP rs7799039, the genotype AA-GA was higher in males, and the GG genotype was higher in females. On analyzing the clinical outcomes associated with these variants, it was observed that individuals possessing LEP rs7799039 GA and AA genotypes displayed elevated levels of triglycerides. In addition, those with the AG-GG genotype of LEPR rs1137101 had lower mean hemoglobin levels. Conclusion Our results showed that the LEP rs7799039 and LEPR rs1137101 variants may be associated with both the risk of MetS development and clinical findings. Among the various contributors to MetS, a genetic predisposition is commonly recognized as the primary cause. [ABSTRACT FROM AUTHOR]

When the studies are evaluated, immunomodulatory effect of MSCs, administration in critically ill patients, obstacle situations in use and side effects, pulmonary fibrosis prevention, which stem cells and their products, regeneration effect, administration route, and dosage are listed under the main heading like. The effect of MSC administration on DNA repair genes in COVID-19 infection is unknown. Our aim is to determine the effect of mesenchymal stem cells (MSCs) therapy applied in critically ill patients with coronavirus infection on DNA repair pathways and genes associated with those pathways. Patients (n = 30) divided into two equal groups. Group-1: Patients in a critically ill condition, Group-2: Patients in critically ill condition and transplanted MSCs. The mechanism was investigated in eleven genes of five different pathways; Base excision repair: PARP1, Nucleotide excision repair (NER): RAD23B and ERCC1, Homologous recombinational repair (HR): ATM, RAD51, RAD52 and WRN, Mismatch repair (MMR): MLH1, MSH2, and MSH6, Direct reversal repair pathway: MGMT. It was found that MSCs application had a significant effect on 6 genes located in 3 different DNA damage response pathways. These are NER pathway genes; RAD23 and ERCC1, HR pathway genes; ATM and RAD51, MMR pathway genes; MSH2 and MSH6 (p < 0.05). Two main points were shown. First, as a result of cellular damage in critical patients with COVID-19, DNA damage occurs and then DNA repair pathways and genes are activated in reaction to this situation. Second, administration of MSC to patients with COVID-19 infection plays a positive role by increasing the expression of DNA repair genes located in DNA damage pathways. [ABSTRACT FROM AUTHOR]

Sequence variants in cytokine genes are related to affect cytokine gene levels. In this study, it was aimed to examine eight single nucleotide polymorphisms (SNPs) in five cytokine genes (TNF-α, INF-γ, IL-6, IL10, TGF-β) for the Turkish population living in Marmara region and to reveal the genetic distance between the study group and other populations.

Objective: We investigated whether the results of leptin gene (LEP) 2548G/A (rs7799039) and leptin receptor gene (LEPR) 668 A/G (rs1137101) variants, as well as the methylation analysis of CpG regions at nucleotides −31 and −51 of the LEP gene, showed any differences between breastfed and non-breastfed children in this study. Materials and Methods: The cross-sectional study included 100 children aged 2–5 years who were attending nursery and kindergarten and had been accepted to the Department of General Paediatrics. Infants who were exclusively breastfed for the first six months after birth constituted the study group, and those who were not only breastfeed constituted the control group. Methylation percentages at CpG islands of the LEP gene were compared between exclusively breastfed and non-exclusively breastfed infants, and the statistical significance was analyzed by looking for changes in LEP −31 and −51 nt methylation and LEP 2548G/A ve LEPR 668 A/G variants. Results: Both groups were compared by feeding, and the association of LEPR and LEP gene polymorphisms and −51 nt and −31 nt methylations were analyzed. There were no significant differences between the groups regarding genotype and allele frequency for the LEPR 668 A/G, LEP 2548 G/A gene variant, −31 nt methylation, and −51 nt methylation status. Similarly, there was no significant difference in genotype and allele frequency for the LEPR 668 A/G gene variant in terms of duration of exclusive breastfeeding, total breastfeeding, body mass index, family obesity, and satiety status. However, maternal support from family elders and physical activity increased the 51 nt methylation, but this methylation was not significantly affected by BMI, age, or satiety status. Conclusions: Maternal support from family elders and physical activity were associated with increased 51 nt methylation, but this methylation was not significantly affected by BMI, age, or satiety status. However, there are not enough studies in this area to reach a definitive conclusion, and further research is needed. [ABSTRACT FROM AUTHOR]

Childhood trauma is a serious form of stress that makes individuals more vulnerable to developing Schizophrenia (SCZ). Many studies have predicted the association between the catechol-O-methyltransferase (COMT) gene Val158Met variant and aggressive attack. We aimed to investigate the association the COMT variant and childhood trauma on aggression in Turkish SCZ patientsThis study included 89 patients diagnosed with SCZ. Childhood Trauma Questionnaire (CTS) and Overt Aggression Scale (OAS) were used to assess childhood trauma and aggression. COMT Val158Met variant was analyzed by PCR-RFLP method from isolated DNAs.There was no statistically significant difference in comparing the COMT genotype distribution and clinical characteristics including suicide attempts, self-destructive behavior, crime history, substance, alcohol and tobacco use. When we evaluate Spearman's rank correlation coefficients between CTQ and OAS, the correlation between the OAS and CTQ scores of the patients was statistically significant except for the sexual abuse subgroup of the CTQ. In the univariate logistic regression analysis, in which the dichotomized OAS score was accepted as the dependent variable, it was found that age, suicide attempt, substance abuse, and CTQ total score significantly predicted the higher OAS scores. In the multivariate logistic regression analysis, which included the variables that predicted OAS significantly, age, suicide attempt, and total CTQ score were determined as independent variables predicting OAS.Because of the phenotypic complexity in SCZ, it is difficult to draw strong conclusions about COMT and to highlight a definitive relationship. Larger-scale studies are needed to examine the multifactorial inheritance pattern of schizophrenia in different dimensions. [ABSTRACT FROM AUTHOR]

Study results supported that immuno-inflammatory pathways in the brain and environment contribute to the etiopathogenesis of bipolar disorder (BD), a chronic affective disease. Our study aimed to assess the relationship between BD risk and interleukin 2 (IL2) and interleukin 2 receptor subunit alpha (IL2RA) variants in a Turkish population. Genomic DNA from 86 diagnosed BD patients and 100 healthy blood donors was extracted. IL2RA rs2104286, IL2 rs2069762, and IL2 rs2069763 variants were genotyped using the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method. It was compared to the relationship between the genotype distributions of these variants and clinical characteristics. Results were evaluated statistically. A statistically significant difference in the genotype distribution of the IL2RA rs2104286 variant was found between patients and controls. There was no GG genotype in the patient group. The IL2RA rs2104286 AA genotype was more common in the patient group than the controls, and the AG genotype was higher in the controls compared to the patients (p = 0.001, p = 0.001, respectively). The IL2 rs2069762 and IL2 rs2069763 genotype distributions did not differ between the patient and control groups (p > 0.05). We found that the clinical global impression severity (CGI-S) score was higher in those with IL2 rs2069762 TG and GG genotypes. In this study, we showed for the first time that the genotype distribution of IL2RA rs2104286 and IL2 rs2069762 is associated with BD susceptibility and CGI-S score in a Turkish population. [ABSTRACT FROM AUTHOR]

Introduction: Leptin (LEP) and LEP receptor (LEPR) play roles in cancer progression. We evaluated LEP-2548G/A and LEPR 668 A/G variants in patients with multiple myeloma (MM). In addition, the methylation status of CpG sites at 31 and 51 nucleotides (nt) according to the transcription start region of the LEP gene was examined. Methods: DNA was extracted from the peripheral blood of study participants who were healthy controls and patients with MM. These variants were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The methylation at -31 and -51 nt in the LEP was performed using the methylation-specific PCR method. The 2-year progression-free survival (PFS) and 2-year overall survival (OS) were evaluated according to prognostic factors. Results: There was no significant difference in the genotype distributions of LEPR 668A/G and LEP-2548G/A between the control and patient groups (p>0.05). We found that -31 and -51 nt regions of the LEP gene were unmethylated in the patient group compared with the control group (p=0.051 and p=0.001, respectively). The -31 nt methylation was unchanged in 15 patients (78.94%). PFS and OS were higher in these patients than in the others. In multivariate analysis, the methylated/unmethylated ratio at -31 nt methylation was associated with a poor prognosis (p=0.020). Conclusion: To our knowledge, our study is the first to examine these variants and their methylation status in Turkish patients with MM. Our results showed that LEP gene -31 nt unmethylation was associated with PFS and OS. These results need to be confirmed in different ethnic and larger sample groups. [ABSTRACT FROM AUTHOR]

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OBJECTIVE: Genome-length association studies have shown that Gasdermin B (GSDMB) and Orosomucoid-like 3 (ORMDL3) genes located on the long arm of chromosome 17 are associated with asthma. In this study, it was aimed to determine the possible relationship between asthma control test (ACT), exercise provocation test (ECT), and fractional nitric oxide (FENO) levels and GSDMB and ORMDL3 gene expressions. METHODS: 59 asthmatic and 38 non-asthmatic children were included in the study. We divided the patient group into two subgroups as mild persistent asthma (29 patients) and moderate persistent asthma (30 patients). ORMDL3, GSDMB gene expression levels, ECT, total IgE levels, and eosinophil counts were measured in all cases. In addition, ACT and FeNO levels were measured in children with asthma. Afterward, the relationship of ORMDL3 and GSDMB gene expression coefficient changes with ECT, ACT, and FeNO was examined. RESULTS: When patients with ACT =15 were compared with patients with ACT =20, ORMDL3 and GSDMB gene expressions were increased 6.74 and 11.74 times, respectively. Comparing patients with ACT =20 and ACT =15 in terms of coefficient changes (ΔCq), higher change values were observed for ΔCq ORMDL3 in patients with ACT =15 (p=0.015). Similarly, when patients with FENO =25 ppb were compared with patients with FENO >25 ppb, ORMDL3 and GSDMB gene expressions were increased by 2.93 and 3.56 times, respectively. When the coefficient changes were compared, no significant difference was found between FENO=25 and FENO >25 patients. There was a slight negative correlation between ΔCq values and ACT score (p=0.003, r=-0.418 for ORMDL3, and p=0.016, r=-0.345 for GSDMB). In addition, we observed a statistically significant positive correlation between ORMDL3 and GSDMB gene expressions (r=0.80, p<0.001). CONCLUSION: We showed that increased ORMDL3 and GSDMB gene expression levels may be associated with ACT scores, FeNO and ECT in asthma. These findings may encourage future studies with larger numbers of subjects that can use gene expression levels in various asthma phenotypes for prognostic prediction. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the susceptibility of the serotonin transporter-associated polymorphic region (5-HTTLPR) and complement factor H (CFH) gene variants to smoking status. Method: Smokers and non-smokers were included in the study. The smoking amount was assessed based on the scores on the Fagerström Test for Nicotine Dependence (FTND). DNA is extracted from blood samples. 5-HTTLPR and CFH Y402H variants were analyzed by polymerase chain reaction (PCR) and/or restriction fragment length polymorphism (RFLP) methods. The results were evaluated statistically. Results: 5-HTTLPR and CFH Y402H genotype and allele distribution did not differ significantly between smokers and non-smokers (p>0.05). There was no deviation from Hardy-Weinberg equilibrium (HWE) for these variants in the groups. Conclusion: Nicotine addiction is a complex phenomenon in which both genetic and environmental factors play a role. The identification of genes that play a role in addiction is important to elucidate the pathogenesis. The results of this study showed that 5-HTTLPR and CFH Y402H variants had no effect on nicotine addiction. However, these results need to be validated in larger sample groups and in different ethnic communities. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the role of MMP-13 rs2252070 in patients with non-small cell lung cancer (NSCLC) in the Turkish population. Method: A total of 95 NSCLC patients and 94 healthy controls were included in this study. The MMP-13 rs2252070 variant was genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The results of the analyses were evaluated for statistical significance. Results: There was no G/G homozygous genotype in the patient or control groups. The prevalence of genotypes of A/A and A/G profiles for the MMP-13 rs2252070 variant was 34.7% and 65.3%, respectively, in patients and 46.8% and 53.2%, respectively, in the control group. No significant difference was found between the patient and control groups in terms of MMP-13 rs2252070 genotype distribution and allele frequency (p= 0.091, OR: 0.605, CI 95%:0.337-1.086; p: 0.199, OR: 1.337, CI 95%: 0.858-2.083, respectively). Conclusions: Our results in this study showed no association between MMP-13 rs2252070 and NSCLC. To fully comprehend the mechanisms underlying NSCLC development, more research is required. [ABSTRACT FROM AUTHOR]

The suppressor of the cytokine signaling-1 (SOCS1) gene is a short sequence located on chromosome 16 that functions to induce an appropriate immune response and is an essential physiological regulator of interferon (IFN) signaling. In addition to comparing the global DNA and SOCS1 gene promoter methylation status between our patients with coronavirus disease 2019 (COVID-19) and healthy controls, this study demonstrates the effect of the SOCS1 rs33989964 polymorphism on patients with COVID-19. The study group included 139 patients diagnosed with COVID-19 in our hospital's clinics between June and December 2020, and the control group included 78 healthy individuals. After comparing the initial gene polymorphisms of the patients with the healthy control group, three separate clinical subgroups were formed. The gene polymorphism distribution and the methylation status of SOCS1 were examined in these clinical subgroups. Hypomethylation of the SOCS1 gene was observed in the COVID-19 patient group compared to the healthy control group (p = 0.001). Between the patients divided into two separate clinical subgroups, those with severe and mild infections, the Del/Del genotype of the SOCS1 gene was more common in patients with severe infection than in patients with mild infection (p = 0.018). Patients with the CA/CA and CA/Del genotypes were 0.201 times more likely to have a severe infection (95% CI: 0.057–0.716, p = 0.007). Having a non-Del/Del genotype was a protective factor against severe infection. The effect of the SOCS1 rs33989964 polymorphism and methylation status of the SOCS1 gene throughout the COVID-19 pandemic could be significant contributions to the literature. [ABSTRACT FROM AUTHOR]