Background/ Aim: MicroRNAs (miRNAs) are known up-to-date candidate biomarkers for several diseases. In addition obtaining miRNA from different body fluids such as serum, plasma, saliva, and urine is relatively easy to handle. Herein we aimed to detect miRNAs as biomarkers for early stage prostate cancer (PC). For this purpose, we used urine and serum samples to detect any significant differences in miRNA profiles between patients and healthy controls. Total ribonucleic acid (RNA) in urine and serum samples were isolated from eight untreated PC patients and thirty healthy individuals were screened for miRNA profile and candidate miRNAs were validated. Whole urinary and serum miRNA profile was analyzed using Affymetrix GeneChip miRNA 4.0 Arrays. Candidate miRNAs were investigated by stem-loop reverse transcription - polymerase chain reaction. According to our results, when analyzed urinary samples of PC patients 49 miRNAs were detected up-regulated and 14 miRNAs were found down-regulated when compared with healthy controls. According to the serum samples 19 miRNAs were found up-regulated and 21 miRNAs were found down-regulated when compared with healthy individuals as well. Interestingly we detected overlapped only four miRNAs (MIR320A, MIR4535, MIR4706, MIR6750) that commonly increase or decrease in both serum and urine samples. Among them MIR320A was found down-regulated, and MIR4535, MIR4706, MIR6750 were found up-regulated fo urine samples. However only MIR6750 was up-regulated and the other three miRNAs were down-regulated for serum samples. Notably, the expression profile of MIR320A was significantly altered in urine specimens of prostate cancer patients. We considered that MIR320A has been evaluated as a valuable biomarker that can be used in the early diagnosis of the PC.

SUMMARY OBJECTIVE: Juvenile idiopathic arthritis is the most common chronic rheumatic disease of autoimmune origin in childhood. While altered DNA methylation has been associated with adult autoimmune rheumatic diseases, studies on juvenile idiopathic arthritis remain limited. This study evaluated levels of 5-methylcytosine and 5-hydroxymethylcytosine, important epigenetic biomarkers, in juvenile idiopathic arthritis and its subtypes. METHODS: This single-center cross-sectional study included patients diagnosed with juvenile idiopathic arthritis aged 1 month to 18 years. Children with systemic or autoimmune diseases and comorbidities were excluded. The study comprised 58 juvenile idiopathic arthritis patients and 35 age-gender-matched healthy controls presenting with non-rheumatological complaints. Demographic and clinical characteristics, including juvenile idiopathic arthritis subtypes, were recorded. The 5-methylcytosine and 5-hydroxymethylcytosine levels were assessed quantitatively using an enzyme-linked immunosorbent assay kit. The relationships between 5-methylcytosine and 5-hydroxymethylcytosine and juvenile idiopathic arthritis and its subtypes were evaluated statistically. RESULTS: The 5-hydroxymethylcytosine level was significantly higher, whereas the 5-methylcytosine and 5-methylcytosine/5-hydroxymethylcytosine ratios were significantly lower in the patient group than in the control group. No significant differences between different juvenile idiopathic arthritis subtypes and disease activity status were found in 5-hydroxymethylcytosine and 5-methylcytosine levels or 5-methylcytosine/5-hydroxymethylcytosine ratios (p>0.05). The 5-methylcytosine/5-hydroxymethylcytosine ratio, with an optimal cut-off value of ≤28.05, demonstrated a sensitivity of 70.69% and a specificity of 77.14% in distinguishing juvenile idiopathic arthritis patients from controls (p<0.001). CONCLUSION: 5-Hydroxymethylcytosine and 5-methylcytosine can be potential biomarkers for juvenile idiopathic arthritis and its subtypes, indicating their roles in juvenile idiopathic arthritis development regarding molecular mechanisms and novel therapeutic approaches.

SUMMARY OBJECTIVE: Juvenile idiopathic arthritis is the most common chronic arthritis in children and adolescents. Nitric oxide mediates autoimmune responses and plays a role in the etiology of numerous rheumatic diseases. Endothelial nitric oxide synthase regulates nitric oxide levels through catalyzing its production. Here, we evaluated the effect of eNOS rs1799983 and variable number tandem repeat variants on disease occurrence and clinical findings in Turkish juvenile idiopathic arthritis patients. METHODS: One hundred and eight participants, including 58 juvenile idiopathic arthritis patients and 50 healthy controls, were included in the study. eNOS rs1799983 and variable number tandem repeat variants were genotyped using polymerase chain reaction and/or restriction fragment length polymorphism. The genotype distribution of the patients was investigated according to their clinical and laboratory results. The results of the analyses were evaluated for statistical significance. RESULTS: The eNOS genotype distributions did not differ between juvenile idiopathic arthritis patients and controls. Within the patient population, those carrying the rs1799983 GT/TT genotypes had higher body mass index, whereas those with the VNTR 4b/4b genotype had lower sedimentation rate. CONCLUSION: Our study results suggest that the eNOS rs1799983 and variable number tandem repeat variants may play a role in juvenile idiopathic arthritis patients’ clinical findings. These data need to be confirmed in different ethnic and larger sample groups.

SUMMARY BACKGROUND: Juvenile idiopathic arthritis is the most common chronic rheumatic disease of childhood, with a significant genetic component. Polymorphisms in proinflammatory cytokine genes are potential contributors to disease susceptibility. The aim of this study was to investigate the association between tumor necrosis factor-alpha (TNF-α)-308G>A (rs1800629), interleukin-1 beta (IL-1β)-511C>T (rs16944), and interleukin-6 (IL-6)-174G>C (rs1800795) variants and juvenile idiopathic arthritis in a Turkish cohort. METHODS: A case–control study was conducted involving 57 juvenile idiopathic arthritis patients and 50 age- and sex-matched healthy controls. Genotyping was performed using polymerase chain reaction–restriction fragment length polymorphism. Genotype and allele distributions were compared between groups, and associations with clinical parameters (erythrocyte sedimentation rate, C-reactive protein, disease subtype) were assessed. RESULTS: A significant association was found between the IL-1β-511C>T polymorphism and juvenile idiopathic arthritis. The CC genotype was significantly more frequent in patients compared to controls (24.6 vs. 2.0%; p=0.004), and the C allele demonstrated a trend toward association (p=0.051). In contrast, no significant differences were observed in the genotype or allele frequencies of the TNF-α-308G>A or IL-6-174G>C variants between patients and controls. Furthermore, none of the studied polymorphisms were associated with erythrocyte sedimentation rate, C-reactive protein levels, or specific disease subtypes. CONCLUSION: This study identifies the IL-1β-511C>T polymorphism as a significant risk factor for juvenile idiopathic arthritis in the Turkish population, underscoring the role of the IL-1 pathway in disease pathogenesis. These findings contribute to the understanding of the ethnic-specific genetic architecture of juvenile idiopathic arthritis and suggest IL-1β as a potential candidate for further functional and pharmacogenetic studies.

Metabolic syndrome (MetS) is a complex cardiometabolic disorder characterized by interconnected abnormalities in glucose and lipid metabolism, adiposity, and vascular regulation. Transcriptomic profiling may provide insight into molecular alterations associated with MetS. This study aimed to identify peripheral blood gene expression changes in MetS using RNA sequencing and to evaluate selected candidate genes by RT-qPCR in an independent cohort. RNA sequencing was performed in 15 patients with MetS and 10 healthy controls; after exclusion of three MetS samples based on PCA, differential expression analysis included 12 patients with MetS and 10 controls. Six candidate genes (FKBP1B, PLIN2, ARVCF, NAA40, ALOX15B, and MUSTN1) were subsequently evaluated by RT-qPCR in an independent cohort of 146 patients with MetS and 116 controls. Relative expression changes were calculated using the 2^−ΔΔCt method, and multiple testing was controlled using the Benjamini–Hochberg false discovery rate (FDR) procedure. Among 19,668 protein-coding genes, 730 showed nominal differential expression (p < 0.05), whereas only FKBP1B and EVA1C remained significant after FDR correction. In the RT-qPCR cohort, FKBP1B, ARVCF, and NAA40 showed significantly higher expression in MetS, corresponding to 6.33-, 1.87-, and 2.34-fold increases, respectively; all remained significant after FDR correction. No significant differences were observed for PLIN2, ALOX15B, or MUSTN1. Exploratory analyses identified no robust associations between candidate-gene expression and metabolic or cardiovascular clinical parameters after multiple-testing correction. FKBP1B remained significant after transcriptome-wide FDR correction and showed concordant upregulation in the independent RT-qPCR cohort, while the nominal RNA-seq candidates ARVCF and NAA40 also showed significantly increased expression by RT-qPCR. These findings identify transcriptional alterations associated with MetS and warrant further validation in independent cohorts and functional studies.

Aim: Telomeres are the basis of replicative senescence in somatic cells and control cell division. It has been shown in some studies that telomere shortening is associated with growth retardation and congenital malformations. Microtia is acongenital ear deformity in which the external ear is malformed and underdeveloped. This study aimed to determine whether leukocyte telomere length (LTL) and the MNS16A Variable Number Tandem Repeat (VNTR) variant of the hTERT gene are associated with the risk of microtia in the Turkish population. Methods: A total of 38 volunteers, 18 patients diagnosed with microtia and 20 healthy controls, were included in the study. LTL analysis was performed with the Quantitative PCR method, and relative T/S ratios of patients and controls were calculated. hTERT-MNS16A-VNTR analysis was performed by PCR method and analysed agarose gel electrophoresis. Results: When patients and healthy controls were compared in terms of genotype/allele frequencies; no statistically significant difference was detected in the genotype and allele frequency of the hTERT-MNS16A-VNTR variant. However, when the T/S ratios of the patients were compared with the healthy group, borderline significance was detected in terms of the shortening rate (p=0.055). Conclusions: Our study is the first study in the literature to examine the relationship between microtia and LTL and hTERT-MNS16A-VNTR. The results suggest that the hTERT-MNS16A-VNTR variant may not be associated with microtia, but telomere shortening may have a causal relationship with microtia. Since microtia is a rare congenital anomaly with varying prevalence among populations, studies in different ethnicities and with larger sample groups will further elucidate the relationship between microtia and LTL/hTERT-MNS16A-VNTR.