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Leptin is mainly produced from adipose tissue and released into the circulation. Circulating leptin binds to the leptin receptor (LEPR) in the brain, which activates signaling pathways that inhibit feeding and promote calorie expenditure. The leptin receptor (LEPR, also known as Ob-R) gene is located at chromosome 1p31. DNA methylation consists of addition a methyl group at position 5′ of the pyrimidine ring of the cytosines upstream of a guanine (dinucleotide CpG) catalyzed by DNA methyltransferases. Methylation of cytosine in CpG sites is an important epigenetic modification way that could suppress the gene expression. This study was conducted to reveal the role of leptin (-2548 G/A, rs7799039) and LEPR (-668 A/G, rs113711) gene polymorphisms in patients diagnosed with multiple myeloma (MM). Patients who were diagnosed with MM and followed-up in our clinic between January 2010 and January 2022 were included in the study. The genotypes of the leptin (-2548 G/A, rs7799039) and LEPR (-668 A/G, rs113711) genes were statistically compared between patients and healthy controls. Additionally, the statistically significant effects of these genotypes on survival were examined. In addition, the methylation status of the patients was compared to the healthy control group, and the effect on survival was evaluated. A total of 300 patients diagnosed with MM and 170 individuals to form a healthy control group were included in this study. In the statistical analysis performed to investigate the effect of leptin and LEPR gene polymorphisms on disease susceptibility, GA and AA genotypes of the leptin gene were found to be significantly higher in the patient group compared to healthy controls. In the statistical analysis for -31 NT and -51 NT methylation of the leptin gene, -51 NT methylation was found to be significantly higher in healthy controls (p = 0.002). In the survival analysis, progression-free survival (PFS) of patients with GG genotype of the LEPR gene was found to be significantly shorter compared to others, there was no effect on the overall survival. In the multivariate analysis, it was revealed that the PFS of patients with GG genotype of the LEPR gene was 2.02 times shorter compared to others (RR: 2.017; CI: 1.191–3.418, p = 0.009). MM and leptin polymorphisms have significant features in terms of both disease susceptibility and treatment response. [ABSTRACT FROM AUTHOR]

Background: We aimed to investigate the quantitative detection of methylated suppressor of cytokine signaling-1 (SOCS-1) in schizophrenia (SCZ) and bipolar disorder (BD), considering SOCS-1 -1478CA/del polymorphism and clinical parameters. Methods: Our research is a case–control study in which 114 patients with SCZ, 86 patients with BD, and 80 volunteers as a healthy group participated. Bisulfite-converted DNA samples were analyzed using the real-time quantitative methylation-specific PCR (qMS-PCR) method to measure the methylation level of the SOCS-1 gene. In addition, SOCS-1 -1478CA/del gene polymorphism was analyzed with the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP). Results: When the SOCS-1 promoter methylation levels of SCZ and BD patients were compared with the control group, the methylation levels of SCZ and BD were significantly lower than the control group. An earlier age of illness onset was significantly related to the SOCS-1 promoter hypermethylation in DNA samples of SCZ patients. Again, SOCS-1 promoter hypermethylation was significantly associated with the higher Young Mania Rating Scale (YMRS) score in BD patients. While the SOCS-1 CA/CA genotype frequency was significantly higher in the control group than in the BD group, the del/del genotype was significantly related to a higher frequency of rapid cycling and a lower frequency of family history in the BD patient group. Conclusion: In summary, the methylated SOCS-1 quantity in DNA samples of SCZ and BD patients were significantly lower than in control samples. Whereas the SOCS-1 -1478CA/del polymorphism was not related to SCZ, it may be associated with the BD. [ABSTRACT FROM AUTHOR]

Background: In today's practice, gene-based approaches come to the fore in the determination of prognosis and treatment preferences of multiple myeloma (MM). DNA methylation is one of the new approach parameters. DNA methylation occurs by the addition of a methyl group to cytosines in CpG dinucleotides. In this study, besides comparing the global DNA and APC 2 gene promotor hypermethylation between our patients with MM and healthy control group, we aimed to demonstrate the effect of hypermethylation on MM treatment responses and survival. Methods and results: 38 patients diagnosed with MM between January 2016 and January 2020 and 50 healthy controls were included in the study. The initial hypermethylation of the patients and the healthy control group were statistically analyzed. In addition, the increase in hypermethylation in the MM group before and after the first series of treatments were analyzed within themselves. There is a significant difference between the patients with MM diagnosis and the healthy control group in terms of the initial global hypermethylation (P = 0.001). In patients with MM, hypermethylation was significantly higher. Global hypermethylation in the post-treatment measurements was significantly increased in comparison to the pre-treatment state (P = 0.012). In terms of APC 2 promotor gene-specific hypermethylation, no significant differences were detected between pre- and post-treatment values (P = 0.368). Conclusions: This study represents valuable data with the initial global DNA hypermethylation results in the MM patient group and the increase in hypermethylation post-treatment. it will shed light on future studies. [ABSTRACT FROM AUTHOR]

Multiple myeloma (MM) is a disease caused by malignant plasma cells, causing free light chain release accompanying the increase in monoclonal immunoglobulin. Cytochrome P450 (CYP) is one of the large and functional enzyme families composed of various hemoproteins. This protein network has been shown to play a role in many treatment steps in current practices. We aimed to investigate the relationship between genotypes of CYP3A4*1B and treatment response and prognosis of MM. Seventy-two patients diagnosed with MM between January 2016 and 2020 and 100 healthy people to create a control group participated in our study. Genotypes were classified in 3 separate groups as NN, MN, and MM. Both PFS and OS were significantly higher in the NN genotype (p = 0.001, p = 0.014). Being under the age of 65 was 27.988 times more protective for OS and 4.496 times for PFS (p = 0.006, p = 0.017). NN genotype was shown to be 41.666-fold protective for OS and 3.144-fold protective for PFS (p = 0.004, p = 0.030). This study demonstrated that CYP3A4*1B NN genotype, which is an important cytochrome p450 member for the treatment of MM, was 41.666-fold protective for OS and 3.144-fold protective for PFS. It was shown in this study for the first time in the literature as a valuable contribution. [ABSTRACT FROM AUTHOR]

Background: Uteroglobin (UG) is a multifunctional protein with anti-inflammatory properties. The aim of this study was to first evaluate the role of UG gene G38A polymorphism in childhood idiopathic nephrotic syndrome (INS), and determine whether this variation may be related to the occurrence of INS or a steroid response. Methods: One hundred and thirty-six children diagnosed with INS in Gaziantep University, Department of Pediatric Nephrology, and 70 healthy volunteers were included. Children with INS were divided into two groups: steroid-sensitive ( n = 84), and steroid-resistant ( n = 52). Samples were examined using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) enzyme method. Results: The distributions of AA, GG, and AG genotypes of UG gene G38A (G/A) were 16.9%, 44.9%, and 38.2% in the all-INS group, whereas they were 14.3%, 48.8%, and 36.9% in the steroid-sensitive INS (SSINS) group compared with 21.1%, 38.5%, and 40.4% in steroid-resistant INS (SRINS), and 5.7%, 41.4%, and 52.9% in controls. The risk of INS was increased almost 4-fold in children with the AA genotype ( p = 0.016). The risk of having SSINS was increased 3.5-fold ( p = 0.042) whereas the risk of SRINS was increased 4.8-fold in the same genotype ( p = 0.014). Conclusions: The uteroglobin gene may play an important role in the development of INS, and the AA genotype of UG gene G38A polymorphism was found more frequently in those children. Further studies evaluating all polymorphisms in larger patient groups are needed to exactly determine the effect of UG gene on the development of INS and steroid response in children. [ABSTRACT FROM AUTHOR]

Purpose: To reveal the possible role of mycoplasmas in the etiopathogenesis of prostate cancer. Methods: In the study, prostate biopsy was performed on 62 patients with an abnormal digital rectal examination and/or elevated PSA. The patients' age was between 62 and 77 (mean 65.4 years) years. Thirty-one patients had adenocarcinoma of the prostate histopathologically (group 1). From these patients, the specimens were divided into two subgroups as specimens with malignant findings (group 1A) and specimens with benign findings (group 1B). The control group consisted of 31 patients with benign prostatic hyperplasia (group 2). In the specimens, the presence of mycoplasma DNA was investigated by the polymerase chain reaction method. Results: The mycoplasma DNA was found to be positive in 11 (35.4 %) patients in group 1A and in 4 (12.9 %) patients in group 1B. There was no mycoplasma DNA in the patients in group 2. The differences between group 1A and group 1B, and between group 1A and group 2 were statistically significant ( p values, respectively, 0.006 and 0.0001). Conclusions: Our data supported the thesis that mycoplasma infections play a role in the etiopathogenesis of the prostate cancer. [ABSTRACT FROM AUTHOR]

Acute rheumatic fever (ARF) is a delayed immunologically mediated sequela of throat infection by group A β-hemolytic streptococci. Inflammatory cytokines may play a pathogenic role in ARF. The objective of this study was to investigate the potential associations between interferon (IFN)-γ, interleukin (IL)-6, tumor necrosis factor (TNF)-α, transforming growth factor (TGF)-β1, and IL-10 gene polymorphisms and childhood ARF. Thirty-eight ARF patients and 40 age- and sex-matched healthy controls were analyzed for eight polymorphisms in five different cytokine genes [IFN-γ (+874), IL-6 (−174), TNF-α (−308), TGF-β1 (+10, +25), and IL-10 (−1082, −819, −592)]. Cytokine genotyping was performed by polymerase chain reaction sequence-specific primer methods. Patients with ARF had significantly higher frequencies of IFN-γ (+874) polymorphism in both TT genotype ( p = 0.0002) and T allele ( p = 0.0004). No statistically significant differences were observed in genotypes, haplotypes, and allele frequencies of IL-6, TNF-α, TGF-β1, and IL-10 genes between ARF and control groups ( p > 0.05). GG genotype frequency of TNF-α gene (low expression) was higher in patients who had previous ARF history ( p = 0.006). High expression of TGF-β1 (TT/GG, TC/GG) was more frequent in patients with CRP positivity ( p = 0.034). IL-6 CC genotype (low expression) frequency was higher in patients with tricuspid valve insufficiency ( p = 0.002), while IFN-γ TT genotype (high expression) frequency was higher in patients with mitral valve prolapse ( p = 0.049). Conclusion: High expression of the IFN-γ gene may carry a higher risk for ARF in Turkish children, while IL-6, TNF-α, and TGF-β1 may have an impact in mediating some clinical and laboratory manifestations of the disease. [ABSTRACT FROM AUTHOR]

Previous studies have suggested that DNA repair enzyme polymorphisms may bear prognostic value in metastatic colorectal carcinoma (MCRC). We prospectively treated 43 MCRC patients with irinotecan-based regimens (XELIRI or IFL). Allelic variants of the XRCC1 gene at codon 399 and XPD gene at codon 751 were analyzed in lymphocyte DNA by PCR–RFLP. Clinical outcome variables: overall survival (OAS), progression-free survival (PFS) and the occurrence of grade 3 or 4 hematological and gastrointestinal (GIS) toxicities were evaluated. In the univariate analysis for OAS ( n = 43) only XPD and XRCC1 polymorphisms were significant ( P = 0.05 and P = 0.04, respectively). After adjustment for performance status (ECOG = 0, 1 vs. 2) and disease extent (single vs. multiple metastatic site), XRCC1 genotype and performance status retained significance (HR = 2.85, P = 0.04, and HR = 3.19, P = 0.02, respectively). Gln/Gln genotype was associated with the greatest risk of death. Type of presentation (metastatic vs. local disease at first presentation) was the only significant predictor of PFS in the univariate analysis ( n = 40, P = 0.003). After adjustment for performance status and disease extent, type of presentation retained its significance (HR = 4.35, P = 0.003). None of the toxicities was associated with these genotypes. XRCC1 genotype independently predicted overall survival in metastatic colorectal carcinoma patients treated with irinotecan-based chemotherapy. [ABSTRACT FROM AUTHOR]

The objective was to determine whether pregnancy loss after amniocentesis is related to the amount of amniotic fluid obtained during the procedure. The study enrolled 2,400 women, all in their sixteenth to twentieth week of pregnancy. A 22G spinal needle was inserted for amniocentesis. The amount of amniotic fluid obtained from 1,200 patients in Group 1 was 4 ml and from 1,200 patients in Group 2 was 20 ml. In Group 1, the amniotic fluid was analyzed with a quantitative fluorescent polymerase chain reaction technique, whereas in Group 2, conventional cytogenetic analysis was used. SPSS 16.0 (chi-square and t tests) was used for statistical analyses. In Group 1, postamniocentesis premature rupture of membranes (PROM) occurred in four patients (0.3%). There was one unintended fetal loss and postamniocentesis miscarriage rate was 0.08%. In Group 2, postamniocentesis PROM occurred in 12 patients (1%). Eight of these patients experienced fetal loss (0.67%). Fetal loss rates were higher in Group 2 compared with Group 1. These results did not show statistical differences between the groups according to chi-square test ( P > 0.05). Although statistical analysis denies the positive effect of obtaining small amounts of amniotic fluid to reduce fetal loss rates in patients after amniocentesis, six to eight times lower fetal loss rates based on the amount of fluid obtained cannot be undervalued. [ABSTRACT FROM AUTHOR]

Background: The suppressor of cytokine signaling-1 (SOCS-1) functions to induce an appropriate immune response and is an essential physiological regulator of interferon signaling. DNA methylation involves adding a methyl group to the carbon 5 position of cytosine. Besides comparing SOCS-1 gene methylation status between patients with multiple myeloma (MM) and healthy controls, this study also aimed to demonstrate the effect of SOCS-1 gene distribution and the effect of methylation of SOCS-1 on progression-free survival (PFS) and overall survival (OS)., Methods: This study included 120 patients diagnosed with MM between January 2018 and 2020 and 80 healthy individuals. The distribution of the SOCS-1 genotypes was statistically compared between MM patients and healthy controls. Additionally, the statistically significant effects of these genotypes on survival were examined., Results: The CA/CA genotype of SOCS-1 was significantly higher in healthy controls ( P =0.001), while the Del/Del genotype was significantly higher in patients with MM ( P =0.034). The percent methylated reference (PMR) value of the SOCS-1 gene was significantly higher in the healthy controls (median, 43.48; range, 2.76‒247.75; P =0.001). Patients with a PMR value of ≥43.48 were 3.125 times more likely to develop progression than those with a PMR value of ＜43.48., Conclusion: The effects of SOCS-1 polymorphisms on the pathogenesis of.