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Background: This study aimed to investigate the relationships between eNOS T786C, G894T, intron 4 VNTR (4a/b) gene variations and prostate cancer development and progression., Materials and Methods: This study included 88 patients diagnosed with prostate cancer and 91 healthy controls. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods were used to determine the genotype distributions of eNOS T786C, G894T, intron 4 VNTR (4a/b) gene variations., Results: In our study, the CC homozygous genotype of eNOS T786C gene variation was determined to be significantly higher in the prostate cancer patient group compared to the healthy control group (OR: 2.343, 95%Cl: 0.990-5.544, p = 0.026), while the CT heterozygous genotype was found to be significantly higher in the healthy control group compared to the prostate cancer patient group was found to be significantly higher (OR: 0.589, 95%Cl: 0.325-1.068, p = 0.041). In addition, while the TT homozygous genotype of the eNOS G894T gene variation was found to be significantly higher in the prostate cancer patient group compared to the healthy control group (OR: 9.068, 95%Cl: 4.396-18.777, p < 0.001), the GT heterozygous genotype was found to be significantly higher in the healthy control group compared to the prostate cancer patient group was determined significantly higher (OR: 0.227, 95%Cl: 0.121-0.427, p < 0.001). For eNOS (4VNTR (4a/b) - G894T) gene variations, aa-TT (p = 0.042) and bb-TT (p < 0.001) haplotype frequencies were significantly higher in the prostate cancer patient group, while aa-GT (p = 0.017), bb-GG (p = 0.049) and bb-GT (p < 0.001) haplotype frequencies were found to be significantly higher in the healthy control group. For eNOS (4VNTR (4a/b) - T786C) gene variations, the bb-CC haplotype frequency was determined to be significantly higher in the patient group (p = 0.049), while the bb-CT haplotype frequency was determined to be significantly higher in the control group (p = 0.008). For eNOS (T786C -G894T) gene variations, TT-TT (p < 0.001) and CC-TT (p = 0.025) haplotype frequencies were found to be significantly higher in the patient group. On the other hand, TT-GT (p = 0.002) and CT-GT (p < 0.001) haplotype frequencies were determined to be significantly higher in the control group. The aa genotype of the intron 4 VNTR (4a/b) gene variation was determined to be significantly higher at Gleason score ≥7 compared to Gleason score <7 (OR: 0.184, 95%Cl: 0.050-0.677, p = 0.005). PSA levels were determined significantly higher in patients with Gleason score 7 and above (p = 0.008). The risk of developing prostate cancer was found to be significantly higher in patients carrying the CC homozygous mutant genotype of the eNOS T786C gene variation (p = 0.024) and in patients carrying the TT homozygous genotype of the G894T gene variation (p = 0.021)., Conclusions: In our study, the CC homozygous genotype of the eNOS T786C gene variation was determined as a genetic risk factor for the development of prostate cancer, while the CT heterozygous genotype was determined as a protective factor against prostate cancer. For the eNOS G894T gene variation, the TT homozygous genotype was determined as a genetic risk factor for the development of prostate cancer, while the GT heterozygous genotype was determined as a protective factor against prostate cancer. Additionally, for eNOS (4VNTR (4a/b) - G894T) gene variations, aa-TT and bb-TT haplotypes have been identified as genetic risk factors for the development of prostate cancer, while aa-GT, bb-GG and bb-GT haplotypes have been identified as protective factors against the disease has been determined. For eNOS (4VNTR (4a/b) - T786C) gene variations, the bb-CC haplotype was determined as a genetic risk factor in the development of prostate cancer, while the bb-CT haplotype was determined as a protective factor against the disease. TT-TT and CC-TT haplotypes for eNOS (T786C -G894T) gene variations have been identified as genetic risk factors for the development of prostate cancer. In contrast, TT-GT and CT-GT haplotypes were found to be protective factors against the disease. The aa genotype of the intron 4 VNTR (4a/b) gene variation has also been identified as an important genetic risk factor in prostate cancer progression. Significantly increased PSA levels in patients with Gleason score 7 and above, and significantly increased PSA levels in patients carrying the CC and TT homozygous mutant genotype for T786C and G894T gene variations were determined as important risk factors. It is thought that the genetic biomarkers in our study may play a role as personalized therapeutic agents in slowing down the development of prostate cancer, increasing the effectiveness of treatment in prostate cancer, affecting the responses to drugs that regulate NO signaling, predetermining genetic predisposition to prostate cancer, and risk assessment in patients with prostate cancer., Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)

The aim of this study is to determine the roles of eNOS gene variations in BCA development. Our study included 91 patients diagnosed with BCA and 91 healthy controls. eNOS 4VNTR (4a/b), T786C and G894T gene variations genotype distributions were determined by PCR and RFLP methods. The significant difference was determined between these groups in terms of eNOS T786C and eNOS G894T gene variations genotype distributions ( p  < 0.05). TT genotype for G894T gene variation and CC genotype for T786C gene variation were detected higher in patients. The CC genotype of T786C gene variation was detected significantly higher in male patients than in male controls ( p  < 0.05). In addition, aa-TT, ab-TT, bb-TT haplotypes of 4VNTR (4a/b)-G894T gene variations, aa-CC, ab-CC, bb-CC haplotypes of 4VNTR (4a/b)-T786C gene variations and TT-TT, TT-CC, TT-CT, GG-CC, GT-CC haplotypes of G894T-T786C gene variations were observed in patient group more than control group. The significant difference was detected between these groups in terms of eNOS (G894T-T786C) haplotypes ( p  < 0.05). In our study, eNOS T786C and eNOS G894T gene variations were determined important genetic risk factor in the Thrace population of Turkey., Competing Interests: Conflict of interestThe authors declare that they have no conflict of interest., (© The Author(s), under exclusive licence to Association of Clinical Biochemists of India 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

The pathogenic mechanisms of these diseases must be well understood for the treatment of neurological disorders such as Huntington's disease. Huntington's Disease (HD), a dominant and neurodegenerative disease, is characterized by the CAG re-expansion that occurs in the gene encoding the polyglutamine-expanded mutant Huntingtin (mHTT) protein. Genome editing approaches include zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs) and Clustered Regularly Interspaced Short Palindromic Repeats/Caspase 9 (CRISPR/Cas9) systems. CRISPR/Cas9 technology allows effective gene editing in different cell types and organisms. Through these systems are created isogenic control of human origin induced pluripotent stem cells (iPSCs). In human and mouse models, HD-iPSC lines can be continuously corrected using these systems. HD-iPSCs can be corrected through the CRISPR/Cas9 system and the cut-and-paste mechanism using isogenic control iPSCs. This mechanism is a piggyBac transposon-based selection system that can effectively switch between vectors and chromosomes. In studies conducted, it has been determined that in neural cells derived from HD-iPSC, there are isogenic controls as corrected lines recovered from phenotypic abnormalities and gene expression changes. It has been determined that trinucleotide repeat disorders occurring in HD can be cured by single-guide RNA (sgRNA) and normal exogenous DNA restoration, known as the single guideline RNA specific to Cas9. The purpose of this review in addition to give general information about HD, a neurodegenerative disorder is to explained the role of CRISPR/Cas9 system with iPSCs in HD treatment., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

In our study, we aimed to investigate the relationship between microRNA (miRNA) expression levels and serum iron (Fe), copper (Cu), and zinc (Zn) levels in Multiple sclerosis (MS) patients. Total RNA was isolated from peripheral venous blood containing ethylenediaminetetraacetic acid (EDTA) of MS patients and controls. Total RNA was labeled with Cy3-CTP fluorescent dye. Hybridization of samples was performed on microarray slides and arrays were scanned. Data argument and bioinformatics analysis were performed. Atomic absorption spectrophotometer method was used to measure serum Fe, Cu, and Zn levels. In our study, in bioinformatics analysis, although differently expressed miRNAs were not detected between 16 MS patients and 16 controls, hsa-miR-744-5p upregulation was detected between 4 MS patients and 4 controls. This may be stem from the patient group consisting of MS patients who have never had an attack for 1 year. Serum iron levels were detected significantly higher in the 16 MS patients compared to the 16 controls. This may be stem from the increase in iron accumulation based on inflammation in MS disease. According to the findings in our study, hsa-miR-744-5p upregulation has been determined as an early diagnostic biomarker for the development together of insulin resistance, diabetes mellitus associated with insulin signaling, and Alzheimer's diseases. Therefore, hsa-miR-744-5p is recommended as an important biomarker for the development together of diabetes mellitus, Alzheimer's disease, and MS disease. In addition, increased serum Fe levels may be suggested as an important biomarker for neurodegenerative diseases such as Parkinson's disease, Alzheimer's disease, and MS disease., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: The aim of our study is to investigate the roles of IL-8 (+ 781 C/T) and MMP-2 (-735 C/T) gene variations in early diagnosis and progression of BCA., Methods: Polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) methods were used to determine the genotype distributions of IL-8 (+ 781 C/T) and MMP-2 (-735 C/T) gene variations., Results: In our study, the genotype distributions of IL-8 (+ 781 C/T) and MMP-2 (-735 C/T) gene variations were not found to be significantly different between the patient and control groups. In addition, C and T allele frequencies for these gene variations were not different from the Hardy-Weinberg distribution in patient and control groups. However, when the combined genotype analyzes for these gene variations were evaluated, CC-CC and CT-CC combined genotypes for + 781 C/T / -735 C/T gene variations were observed significantly more in the patient group compared to other genotypes., Conclusion: Although IL-8 (+ 781 C/T) and MMP-2 (-735 C/T) gene variations were not found to be genetic risk factors in the Thrace population in our study, CC-CC and CT-CC combined genotypes were determined as genetic risk factors for BCA susceptibility. The combined genotypes obtained as a result of the combined genotype analysis of these genetic variations that are effective in tumor progression may be considered to be important biomarkers for the early diagnosis and progression of BCA., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

Objective: Bladder cancer is a complex malignancy and has been associated with high morbidity. Since susceptibility to bladder cancer development differs between individuals, determining the roles of MTHFR and MMP-2 gene variations associated with this cancer is important for analyzing differences in individual susceptibility. In this study, we aimed to investigate the role of MTHFR and MMP-2 gene variations in the development of bladder cancer in the Thrace region of Turkey., Materials and Methods: One hundred seventy-nine blood samples were collected, including 98 patients with bladder cancer and 81 healthy controls. DNA extraction was carried out with blood samples. Polymerase chain reaction-restriction fragment length polymorphism was applied to detect MTHFR C677T (rs 1801133), MTHFR A1298C (rs 1801131), and MMP-2 (-1306C>T) (rs 243865) gene variants., Results: For the MTHFR A1298C gene variation, CC genotype was the genetic risk factor (P=.0001), while AC genotype was the protective factor (P< .0001) in the development of bladder cancer. For the MMP-2 (-1306C>T) gene variation, TT genotype (P < .0001) and T allele (P=.0006) were genetic risk factors, while AC genotype (P=.0009) was the protective factor in the development of bladder cancer. For C677T/A1298C gene variations, CC-CC combined genotype was the genetic risk factor (P=.009), while CT-AC and CC-AC combined genotypes were potential protective biomarkers (P=.013 and P < .001, respectively)., Conclusion: In our study, TT genotype and T allele were determined as genetic risk factors for MMP-2 (-1306C>T) gene variation. For C677T/A1298C gene variations, CC- CC combined genotype was detected as the genetic risk factor in the development of bladder cancer.

Background: The aim of this study is to investigate the relationship between MTRR A66G, MTRA2756G gene variations and cell anomalies in the early diagnosis and progression of bladder cancer., Methods: PCR and RFLP methods were used to determine the genotype distributions of MTRR A66G and MTR A2756G gene variations. Peripheral smear preparations prepared from blood samples were fixed with methanol fixative and stained histochemically. Cellular morphological evaluations were made under the light microscope., Results: In our study, AA-GG haplotype was observed significantly more in the patient group than control group (OR: 3.304, 95% CI: 1.023-10.665, p = 0.046). The significant increase was determined in terms of histological damage parameters in the patient group compared to the control group (p < 0.05). For multiple vacuoles damage parameter (mild score), AA genotype of MTR A2756G gene variation was significantly different compared to AA genotype of MTRR A66G gene variation (OR: 0.211, 0.049-0.912, p = 0.037). AA genotype of MTR A2756G gene variation was observed more than AA homozygous genotype of MTR A66G gene variation for giant platelets with different sizes damage parameter (mild score) (OR: 0.062, 0.017-0.228, p < 0.001)., Conclusions: In conclusion, in Thrace population, AA genotype of the MTR A2756G gene variation was significantly higher than the AA homozygous genotype of the MTR A66G gene variation as a genetic risk factor for the multiple vacuoles damage parameter. In addition, AA genotype of MTR A2756G gene variation was determined as a genetic risk factor for giant platelets with different sizes damage parameter., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

Background: The goal of this study is to determine the role of MTHFR (C677T, A1298C) and MGP (G-7A, T-138C) gene variations in DN development., Methods: There were 61 DN patients and 55 healthy controls in this study. The genotype distributions of these gene variations were determined using PCR and RFLP methods., Results: According to our study, there was no significant relationship between these gene variations and DN ( p  > 0.05). The allele frequencies of the MTHFR C677T gene variation in the control group were found significantly different from the Hardy-Weinberg distribution ( p  < 0.05). According to combined genotype analysis, GA-TT combined genotype of MGP (G-7A/T-138C) gene variations was observed significantly more in the patient group with DN. The GA-TT combined genotype of MGP (G-7A/T-138C) gene variations was differ significantly between these groups (OR: 2.359, %95 CI: 1.094-5.087, p  = 0.028)., Conclusion: In our study, although MTHFR and MGP gene variations were not risk factors, the GA-TT combined genotype of the MGP (G-7A/T-138C) gene variation was detected as an important risk factor for DN., Competing Interests: Conflict of interestThe authors declare that they have no conflict of interest., (© The Author(s), under exclusive licence to Tehran University of Medical Sciences 2022.)

The aim of this study is to investigate the relationship between IL-18 (- 607 C/A), IL-18 (- 137 G/C), and MMP-2 (- 1306 C/T) gene variations and serum trace element levels in patients diagnosed with CRF. Genotype distributions of IL-18 (- 607 C/A, - 137 G/C) gene variations were determined by polymerase chain reaction (PCR) method. PCR-restriction fragment length polymorphism (RFLP) methods were used to determine the MMP-2 (- 1306 C/T) gene variation genotype distributions. Serum trace element levels were determined by atomic absorption spectrophotometer method. A significant difference was found between the CRF patient and healthy control groups in terms of genotype distributions of IL-18 (- 607 C/A) and MMP-2 (- 1306 C/T) gene variations (p < 0.05). The significant difference was found between the patient and control groups in terms of serum copper and zinc levels and copper/zinc ratio (p < 0.05). The significant difference was detected between patient and control groups in terms of copper and zinc levels and copper/zinc ratio according to IL-18 (- 607 C/A), IL-18 (- 137 G/C), and MMP-2 (- 1306 C/T) gene variations and genotype distributions (p < 0.05). In addition, significant difference was determined in terms of serum copper and zinc levels and copper/zinc ratio according to haplotypes of IL-18 (- 607 C/A), IL-18 (- 137 G/C), and MMP-2 (- 1306 C/T) gene variations between patient and control groups (p < 0.05). In conclusion, evaluation of IL-18 (- 607 C/A, - 137 G/C) and MMP-2 (- 1306 C/T) gene variations and serum trace element levels together is extremely important in terms of obtaining important biomarkers in CRF early diagnosis and progression., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: The purpose of our study is to investigate the roles of IL-18 gene variations in bladder cancer development in Thrace population of Turkey., Methods: This study was carried out with 103 bladder cancer patients and 81 healthy controls. Genotype distributions of IL-18 (-137 G/C) and IL-18 (-607 C/A) gene variations were determined using polymerase chain reaction (PCR) method., Results: The CC homozygous genotype for IL-18 (-607 C/A) gene variation was significantly higher in patients with bladder cancer compared to healthy controls (OR 0.345, 95% Cl 0.186-0.639, p = 0.001). Besides this, allele frequencies of IL-18 (-137 G/C) and IL-18 (-607 C/A) gene variations in patient with bladder cancer and healthy control groups were significantly different from the Hardy-Weinberg distribution (p < 0.05). For IL-18 (-137 G/C) and IL-18 (-607 C/A) gene variations, significant difference was determined between the bladder cancer patient and healthy control groups in terms of GC-CA (OR 0.381, 95% Cl 0.203-0.714, p = 0.002), GC-CC (OR 2.147, 95% Cl 1.013-4.550, p = 0.043), GG-AA (OR 0.431, 95% Cl 0.365-0.509, p = 0.049), and GG-CC (OR 2.476, 95% Cl 1.177-5.208, p = 0.015) haplotypes., Conclusion: In our study, CC genotype of IL-18 (-607 C/A) gene variation was determined as genetic risk factor for bladder cancer development. In bladder cancer patient and healthy control groups, G and C allele frequencies of IL-18 (-137 G/C) gene variation, and C and A allele frequencies of IL-18 (-607 C/A) gene variation were determined significantly different from the Hardy-Weinberg distribution., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Chronic inflammation is an important risk factor in the development of bladder cancer. It may stimulate growth and metastasis of cancer cells. The inflammatory process includes MMP activities and expression. MMP activation can be stimulated by various inflammatory cells. Pathological processes such as bladder cancer may occur due to imbalance in MMP activities. In our study, we aimed to determine the relationship between MMP-1, MMP-3 gene variations associated with chronic inflammation and the bladder cancer development., Methods: Our study was carried out with 89 bladder cancer patients and 78 healthy controls. PCR-RFLP methods were applied to determine MMP-1 and MMP-3 gene variations genotype distributions., Results: 1G/1G homozygous and 1G/2G heterozygous genotypes of MMP-1 gene variation were determined more in patients than controls. The 5A/5A homozygous and 5A/6A heterozygous genotypes of the MMP-3 gene variation were detected more in patients than controls. The significant difference was detected in terms of genotype distributions of MMP-1 and MMP-3 gene variations between these groups (p < 0.05). In addition to, the most common haplotype in the patient group were detected as 1G/2G-5A/6A (20.22%)., Conclusion: In this study, MMP-1 and MMP-3 gene variations were determined as possible genetic risk factors for bladder cancer development in the Thrace population., (© 2021. The Author(s), under exclusive licence to Springer Nature B.V.)

Background: The aim of this study is to investigate of the relationship between GSTM1 gene variations and serum trace elements, plasma malondialdehyde levels in patient with colorectal cancer. Mateials and Methods. Genotype distributions of GSTM1 gene variations were determined using real-time polymerase chain reaction method. Serum trace element levels were determined using atomic absorption spectrophotometer method and plasma MDA levels were measurement by spectrophotometric method., Results: Serum Cu levels, plasma MDA levels and Cu/Zn ratio were determined significantly higher in the group of CRC patient carrying the GA heterozygous genotype of the GSTM1 (rs 112,778,559) gene variation compared to healthy controls (p < 0.05). Serum Cu, Zn levels, plasma MDA levels and Cu/Zn ratio were determined significantly higher in patients carrying GG homozygous genotype of the GSTM1 (rs 112778559) gene variation compared to healthy controls carrying same genotype (p < 0.05). Serum Cu, Zn levels, plasma MDA levels and Cu/Zn ratio were determined significantly higher in the group of CRC patient carrying the GG homozygous genotype of the GSTM1 (rs 12068997) gene variation compared to healthy controls (p < 0.05). On the other hand, serum Se levels were detected significantly lower in CRC patients carrying GA heterozygous and GG homozygous genotypes for GSTM1 (rs 112,778,559) and (rs 12,068,997) gene variations compared to healthy controls (p < 0.05)., Conclusion: In our study, the evaluation of serum Cu, Zn and Se trace element levels and plasma MDA levels according to GSTM1 gene variations genotype distributions were enabled to obtain important biomarkers in terms of CRC development and progression., (© 2021. The Author(s), under exclusive licence to Springer Nature B.V.)

Background: Ischemic stroke is a clinical condition characterized by focal or global cerebral dysfunction resulting from inhibition of brain blood flow. Genetic factors play an important role in the pathogenesis of ischemic stroke. As a result of IL-18 (-607 C/A, -137 G/C) gene variations, it is thought that binding of transcription factors may be affected and IL-18 mRNA expression can be modulated. Therefore, the purpose of our study is to investigate the roles of IL-18 (-607 C/A), IL-18 (-137 G/C) gene variations in the development of ischemic stroke in Trakya Region of Turkey., Methods: Our study was performed with 90 ischemic stroke patients and 89 healthy controls. Genotype distributions of IL-18 (-607 C/A, -137 G/C) gene variations were determined using polymerase chain reaction (PCR) method., Results: GC genotype and CA genotype of IL-18 (-137 G/C) and IL-18 (-607 C/A) gene variations were determined higher significantly in patent group as compared with other genotypes. However, the statistically significant difference was not determined between patients with ischemic stroke and healthy control groups in terms of IL-18 (-137 G/C) and IL-18 (-607 C/A) gene variations ( p > 0,05). Allele frequencies of IL-18 (-137 G/C) and IL-18 (-607 C/A) in patient and control groups were significantly different from the Hardy-Weinberg distribution ( p < .001 for all)., Conclusion: Although these gene variations' genotype distributions were not determined as a genetic risk factor for the development of ischemic stroke, allele frequencies of IL-18 (-137 G/C) and IL-18 (-607 C/A) in patient and control groups were significantly different from the Hardy-Weinberg distribution.