Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in... more Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in the PAH gene among the Turkey’s Central Anatolian region. Methods Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and 94 patients whose diagnosis was confirmed by PAH gene analysis (Sanger DNA Sequence Analysis and Next-Generation Sequencing) were determined retrospectively. Blood phenylalanine levels were analyzed using the high-performance liquid chromatography method. Results Mild HPA-not-requiring-treatment (NT) was found in 50.9% of the patients, and a classical phenylketonuria (PKU) phenotype was found in 25.9%. Forty-seven types of variants were identified. The predominant variants were p.Ala403Val (9.9%), p.Ala300Ser (9.4%), and c.1066-11G>A (splicing) (9.4%). Missense mutations accounted for 68% of mutations and attenuated the clinical impact; splice variations were found in 14.8% of cases with severe features. The p.Thr380Met allele was specific...
Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare event... more Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements both derived from maternal balanced translocations. The first case is a 4 year-old boy with speech delay, dysmorphic facial features (inc. cleft lip/palate), behavioural disturbances and growth retardation, who had partial 8q trisomy and partial 21p monosomy resulting from a maternal t(8;21) reciprocal translocation. The other case is a 2 day-old boy with ventriculomegaly, dysmorphic facial features and heart defects (patent ductus arteriosus and atrial septal defect) who had partial 15q trisomy and partial 9p monosomy resulting from a maternal t(9;15) reciprocal translocation.
To determine the incidences of copy number aberrations of receptor kinases and their relations in... more To determine the incidences of copy number aberrations of receptor kinases and their relations in Turkish patients with gastric adenocarcinoma. The prevalence of genomic copy number aberrations of epidermal growth factor receptor (EGFR), human epidermal growth factor receptor 2 (HER2)/topoisomerase IIa (TOP2A), centrosome-associated kinase aurora A (AURK A), centrosome-associated kinase aurora B (AURK B), and mesenchymal-epithelial transition factor (MET) genes and polysomies of related chromosomes were analyzed by fluorescent in situ hybridization (FISH) in tumor samples from 35 patients with gastric cancer. There were 28.6%, 65.7%, 20.0%, 17.1%, 60.0%, and 45.7% cases considered FISH-positive for EGFR, MET, HER2, TOP2A, AURK A, and AURK B genes, respectively. Statistically significant associations were determined in detection of amplifications of 1) EGFR gene with chromosome 7 polysomy, 2) MET gene in nonpolysomic chromosome 7 nuclei, 3) HER2/TOP2A genes in nonpolysomic chromosome...
Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD... more Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD) pathogenesis after the observation of clear evidence of immune responses close to the basal ganglia of PD patients. Although receptor of advanced glycation end-products (RAGE) has been implicated in several studies as an inflammation marker in PD; RAGE gene polymorphisms is infrequently examined. Thirty single-nucleotide polymorphisms (SNPs) including G82S (rs2070600) located in 3rd exon, -374T/A (rs1800624), -429T/C (rs1800625) and 63bp ins/del in the promoter region of the gene which may have marked effects on the expression or function of RAGE have been described to date. Objective: To evaluate the association of RAGE gene polymorphisms with PD in a Turkish cohort. Methods: Totally, 174 PD patients and 150 healthy-individuals were included into the study. Genotype analyses were performed using PCR-RFLP and ARMS methods. Results: 429T>C, 374T>A, and 82G>S polymorphisms showe...
Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The ex... more Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The expansion of a noncoding GGGGCC (G4C2) hexanucleotide repeat in the C9orf72 gene is a major cause of both familial FTLD and amyotrophic lateral sclerosis. The aim of this study was to determine the prevalence of C9orf72 G4C2-repeat expansion in a Turkish population with FTLD and to determine its effects on the phenotype. The G4C2 expansion in the C9orf72 gene was analyzed in 100 cases of FTLD without mutations of the MAPT, PGRN, CHMP2B, VCP, TARDBP, and FUS genes and 100 age-matched healthy controls by using repeat-primed polymerase chain reaction and fragment length analysis techniques. A possible pathogenic repeat (≥30) was found in one of the familial cases (1/33), but none of the sporadic cases. The difference in the allele length between the cases and controls was statistically significant (p < 0.01). Intermediate (20-30) repeats were detected in 4% of our cases. Patients with psychotic symptoms appear to be enriched for intermediate and possibly pathogenic repeats. To determine whether the intermediate and ≥30-repeat allele carriers shared the C9orf72 risk haplotype, we examined rs4879515 and rs3849942 in all samples and family members of patients with possibly pathogenic alleles. We identified at least one risk allele for each single-nucleotide polymorphism in all intermediate and possibly pathogenic repeat carriers. We observed that ≥8 unit repeats were strongly correlated with the tagging risk alleles for both single-nucleotide polymorphisms (p < 0.001). To our knowledge, this is the first study to evaluate C9orf72 G4C2 repeats in Turkish patients with FTLD. The present findings suggest that pathogenic expansions of the C9orf72 repeat are uncommon in Turkish patients with FTLD, but intermediate repeats may be a risk factor for FTLD and act as a genetic modifying factor for psychotic symptoms.
Abstract Purpose: To establish the frequency of IDH2 mutations in primary glioblastoma at a popul... more Abstract Purpose: To establish the frequency of IDH2 mutations in primary glioblastoma at a population level. Experimental Design: We screened primary glioblastoma in a population-based study for IDH2 mutations and correlated them with clinical data. Results: No IDH2 gene mutation was detected in tumor samples. Since the analyzed tumor samples were the primary GBMs, the data of undetected IDH2 gene mutation was in agreement with the literature. Conclusion: In summary, our study is the first study to investigate the IDH2 status in primary GBMs in Turkish patients. Anaplastic astrocytoma or glioblastoma patients with IDH1/IDH2 mutations have been reported to be younger than those carrying the wild-type allele. Accordingly IDH1/IDH2 mutations were observed more frequently in patients at an early age. In our study, mutations were not detected in our study group, thus a statistical ratio cannot be derived. The average age for our patient sample was 54.5 ± 2.
OBJECTIVE Genome-wide association studies have revealed that single nucleotide polymorphisms (SNP... more OBJECTIVE Genome-wide association studies have revealed that single nucleotide polymorphisms (SNPs) are associated with atrial fibrillation (AF) and can predict AF recurrence after catheter ablation in different populations. However, there exists no such data for the Turkish population. We aimed to investigate whether 11 SNPs in the PITX2, ZFHX3, EPHX2, CAV1, TBX5, TGF-1, and SCN10A were related to AF and whether these SNPs can predict long-term atrial tachyarrhythmia (ATa) recurrence after pulmonary vein isolation (PVI) for AF in Turkish patients. METHODS A total of 245 consecutive patients with non-valvular AF (44.9% men, mean age: 60.2±13.2 years, 65.3% paroxysmal AF) and 50 age- and sex-matched controls were included in this analysis. The clinical features and genetic variants were compared between the 2 groups. Of the 245 patients, 128 who underwent PVI with second-generation cryoballoon were further examined for long-term recurrence after the procedure. RESULTS Four SNPs in PI...
BACKGROUND Celiac disease (CD) is an immune-mediated enteropathy characterized by lifelong gluten... more BACKGROUND Celiac disease (CD) is an immune-mediated enteropathy characterized by lifelong gluten intolerance. Interleukin-15 (IL- 15) is a proinflammatory cytokine that is considered a key component in the immune reaction triggered by gluten. Our aim of this study was to evaluate the influence of IL-15 gene polymorphisms on CD development and clinical presentation. METHODS The study was enrolled-with 90 CD patients (49 female/41 male, median years of age 11), their 38 siblings (20 female/18 male, median years of age 8), and 99 healthy controls (66 female/33 male, median years of age 13). Their demographic findings, symptoms, and signs histopathological grade, Human Leukocyte Antigen (HLA) types were recorded. IL-15 gene polymorphisms rs2857261, rs10519613, and rs1057972 were analyzed through PCR. RESULTS There was a significantly higher frequency of GG genotype in rs2857972 polymorphisms and TT genotype in rs1057972 polymorphisms in celiac families compared to controls [41% vs. 23%...
Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD... more Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD) pathogenesis after the observation of clear evidence of immune responses close to the basal ganglia of PD patients. Although receptor of advanced glycation end-products (RAGE) has been implicated in several studies as an inflammation marker in PD; RAGE gene polymorphisms is infrequently examined. Thirty single-nucleotide polymorphisms (SNPs) including G82S (rs2070600) located in 3rd exon, -374T/A (rs1800624), -429T/C (rs1800625) and 63bp ins/del in the promoter region of the gene which may have marked effects on the expression or function of RAGE have been described to date. Objective: To evaluate the association of RAGE gene polymorphisms with PD in a Turkish cohort. Methods: Totally, 174 PD patients and 150 healthy-individuals were included into the study. Genotype analyses were performed using PCR-RFLP and ARMS methods. Results: 429T>C, 374T>A, and 82G>S polymorphisms showe...
Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The ex... more Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The expansion of a noncoding GGGGCC (G4C2) hexanucleotide repeat in the C9orf72 gene is a major cause of both familial FTLD and amyotrophic lateral sclerosis. The aim of this study was to determine the prevalence of C9orf72 G4C2-repeat expansion in a Turkish population with FTLD and to determine its effects on the phenotype. The G4C2 expansion in the C9orf72 gene was analyzed in 100 cases of FTLD without mutations of the MAPT, PGRN, CHMP2B, VCP, TARDBP, and FUS genes and 100 age-matched healthy controls by using repeat-primed polymerase chain reaction and fragment length analysis techniques. A possible pathogenic repeat (≥30) was found in one of the familial cases (1/33), but none of the sporadic cases. The difference in the allele length between the cases and controls was statistically significant (p &lt; 0.01). Intermediate (20–30) repeats were detected in 4% of our cases. Patients with psychotic symptoms appear to be enriched for intermediate and possibly pathogenic repeats. To determine whether the intermediate and ≥30-repeat allele carriers shared the C9orf72 risk haplotype, we examined rs4879515 and rs3849942 in all samples and family members of patients with possibly pathogenic alleles. We identified at least one risk allele for each single-nucleotide polymorphism in all intermediate and possibly pathogenic repeat carriers. We observed that ≥8 unit repeats were strongly correlated with the tagging risk alleles for both single-nucleotide polymorphisms (p &lt; 0.001). To our knowledge, this is the first study to evaluate C9orf72 G4C2 repeats in Turkish patients with FTLD. The present findings suggest that pathogenic expansions of the C9orf72 repeat are uncommon in Turkish patients with FTLD, but intermediate repeats may be a risk factor for FTLD and act as a genetic modifying factor for psychotic symptoms.
Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The ex... more Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The expansion of a noncoding GGGGCC (G4C2) hexanucleotide repeat in the C9orf72 gene is a major cause of both familial FTLD and amyotrophic lateral sclerosis. The aim of this study was to determine the prevalence of C9orf72 G4C2-repeat expansion in a Turkish population with FTLD and to determine its effects on the phenotype. The G4C2 expansion in the C9orf72 gene was analyzed in 100 cases of FTLD without mutations of the MAPT, PGRN, CHMP2B, VCP, TARDBP, and FUS genes and 100 age-matched healthy controls by using repeat-primed polymerase chain reaction and fragment length analysis techniques. A possible pathogenic repeat (≥30) was found in one of the familial cases (1/33), but none of the sporadic cases. The difference in the allele length between the cases and controls was statistically significant (p < 0.01). Intermediate (20–30) repeats were detected in 4% of our cases. Patients with psyc...
International Journal of Research Studies in Medical and Health Sciences, 2018
Aim: The glutathione-S-transferases (GSTs) refers to a group of detoxification enzymes that are p... more Aim: The glutathione-S-transferases (GSTs) refers to a group of detoxification enzymes that are pivotal components of the cellular defense against oxidative stress and the expressions of GST isoforms have been shown in human skin. This study was planned to determine the effects of GST polymorphisms on the molecular etiology of the lichen planus (LP).
Materials and Methods: The study group consisted of 55 patients with LP and 98 age- and sex-matched healthy unrelated controls. GSTM1 and GSTT1 genotypes were determined by multiplex PCR, GSTP1 polymorphisms by using PCR-RFLP technique.
Results: GSTM1, GSTT1 and GSTP1 polymorphisms showed significant differences between the patients and controls. We also found that the GSTT1 deletions were more predominant in the patients who had been treated with combined treatments.
Conclusion: GSTM1 and GSTT1 null genotypes and from A to G transition in the 105th position of GSTP1 may play an important role in the physiopathology of LP. Moreover, the relation between the GSTT1 polymorphism and the response of the patients to the treatment protocols should be evaluated in detail in the use of new approaches including antioxidant mechanisms in the unresponsive cases to the standard protocols.
To investigate the effect of klotho gene and β-glucuronidase activity on stone formation in patie... more To investigate the effect of klotho gene and β-glucuronidase activity on stone formation in patients with urinary tract stone disease (UTSD). A total of 103 patients with UTSD and 102 controls with no specific urolithiasis history were enrolled into the study. G395A and C1818T polymorphisms of klotho gene were analyzed with PCR method. Serum levels of calcium and phosphorus and 24-h urine levels of β-glucuronidase activity, calcium and phosphorus levels were measured biochemically. A total of 103 of patients were male (50.2 %) and 102 were female (49.8 %) (p 0.945). Twenty-four-hour urine levels of calcium were significantly higher in UTSD group, whereas no difference was observed in phosphorus levels (p &amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001, p 0.074, respectively). As for the G395A polymorphism, type of GG was significantly higher in the patient group compared to the controls (p = 0.02), while GA genotype was significantly higher in the controls (p = 0.001). There was no significant difference in F352V and C1818T polymorphism between the patient and control groups. β-glucuronidase activity was slightly lower in the patient group without significance (p 0.932).When patients with GG genotype and the rest were compared, there were no significant difference in all parameters. Any polymorphism altering the function of klotho gene may result with stone formation. We found that there are more GG sequences of G395A gene in patients with UTSD. That may be a polymorphism of klotho gene which results with stone formation. Further studies with more patients should be accomplished which are combining the genetic and epigenetic factors associated with urolithiasis and klotho gene to enlighten the etiology of this disease.
Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% ... more Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% of invasive breast cancers are infiltrating ductal and lobular carcinomas respectively. Method: In this study the promoter methylation levels of TWIST, RARβ2, ESR1, GSTP1 and CDH1 genes which are associated with breast cancer were investigated by Quantitative Methylation Sensitive High Resolution Melting Analysis (QMS-HRM). We analysed primary tumor core biopsies from 80 high-risk primary breast cancer patients (tumors ≥2 cm and/or lenfatic me¬tastase and/or distant metastases and/or under 40 years) and their histo¬pathologic types were associated with the methylation levels. Results: In our study the promoter hypermethylation status were obser¬ved at different rates; TWIST, RARβ2, ESR1, GSTP1 and CDH1 methylation frequencies were 25%, 88,75% 72,5%, 82% and 95% respectively. When comparing the promoter hypermethylation of tumor types of the breast, RARβ2, ESR1, GSTP1 and CDH1 genes found...
Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in... more Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in the PAH gene among the Turkey’s Central Anatolian region. Methods Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and 94 patients whose diagnosis was confirmed by PAH gene analysis (Sanger DNA Sequence Analysis and Next-Generation Sequencing) were determined retrospectively. Blood phenylalanine levels were analyzed using the high-performance liquid chromatography method. Results Mild HPA-not-requiring-treatment (NT) was found in 50.9% of the patients, and a classical phenylketonuria (PKU) phenotype was found in 25.9%. Forty-seven types of variants were identified. The predominant variants were p.Ala403Val (9.9%), p.Ala300Ser (9.4%), and c.1066-11G>A (splicing) (9.4%). Missense mutations accounted for 68% of mutations and attenuated the clinical impact; splice variations were found in 14.8% of cases with severe features. The p.Thr380Met allele was specific...
Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare event... more Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements both derived from maternal balanced translocations. The first case is a 4 year-old boy with speech delay, dysmorphic facial features (inc. cleft lip/palate), behavioural disturbances and growth retardation, who had partial 8q trisomy and partial 21p monosomy resulting from a maternal t(8;21) reciprocal translocation. The other case is a 2 day-old boy with ventriculomegaly, dysmorphic facial features and heart defects (patent ductus arteriosus and atrial septal defect) who had partial 15q trisomy and partial 9p monosomy resulting from a maternal t(9;15) reciprocal translocation.
To determine the incidences of copy number aberrations of receptor kinases and their relations in... more To determine the incidences of copy number aberrations of receptor kinases and their relations in Turkish patients with gastric adenocarcinoma. The prevalence of genomic copy number aberrations of epidermal growth factor receptor (EGFR), human epidermal growth factor receptor 2 (HER2)/topoisomerase IIa (TOP2A), centrosome-associated kinase aurora A (AURK A), centrosome-associated kinase aurora B (AURK B), and mesenchymal-epithelial transition factor (MET) genes and polysomies of related chromosomes were analyzed by fluorescent in situ hybridization (FISH) in tumor samples from 35 patients with gastric cancer. There were 28.6%, 65.7%, 20.0%, 17.1%, 60.0%, and 45.7% cases considered FISH-positive for EGFR, MET, HER2, TOP2A, AURK A, and AURK B genes, respectively. Statistically significant associations were determined in detection of amplifications of 1) EGFR gene with chromosome 7 polysomy, 2) MET gene in nonpolysomic chromosome 7 nuclei, 3) HER2/TOP2A genes in nonpolysomic chromosome...
Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD... more Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD) pathogenesis after the observation of clear evidence of immune responses close to the basal ganglia of PD patients. Although receptor of advanced glycation end-products (RAGE) has been implicated in several studies as an inflammation marker in PD; RAGE gene polymorphisms is infrequently examined. Thirty single-nucleotide polymorphisms (SNPs) including G82S (rs2070600) located in 3rd exon, -374T/A (rs1800624), -429T/C (rs1800625) and 63bp ins/del in the promoter region of the gene which may have marked effects on the expression or function of RAGE have been described to date. Objective: To evaluate the association of RAGE gene polymorphisms with PD in a Turkish cohort. Methods: Totally, 174 PD patients and 150 healthy-individuals were included into the study. Genotype analyses were performed using PCR-RFLP and ARMS methods. Results: 429T>C, 374T>A, and 82G>S polymorphisms showe...
Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The ex... more Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The expansion of a noncoding GGGGCC (G4C2) hexanucleotide repeat in the C9orf72 gene is a major cause of both familial FTLD and amyotrophic lateral sclerosis. The aim of this study was to determine the prevalence of C9orf72 G4C2-repeat expansion in a Turkish population with FTLD and to determine its effects on the phenotype. The G4C2 expansion in the C9orf72 gene was analyzed in 100 cases of FTLD without mutations of the MAPT, PGRN, CHMP2B, VCP, TARDBP, and FUS genes and 100 age-matched healthy controls by using repeat-primed polymerase chain reaction and fragment length analysis techniques. A possible pathogenic repeat (≥30) was found in one of the familial cases (1/33), but none of the sporadic cases. The difference in the allele length between the cases and controls was statistically significant (p < 0.01). Intermediate (20-30) repeats were detected in 4% of our cases. Patients with psychotic symptoms appear to be enriched for intermediate and possibly pathogenic repeats. To determine whether the intermediate and ≥30-repeat allele carriers shared the C9orf72 risk haplotype, we examined rs4879515 and rs3849942 in all samples and family members of patients with possibly pathogenic alleles. We identified at least one risk allele for each single-nucleotide polymorphism in all intermediate and possibly pathogenic repeat carriers. We observed that ≥8 unit repeats were strongly correlated with the tagging risk alleles for both single-nucleotide polymorphisms (p < 0.001). To our knowledge, this is the first study to evaluate C9orf72 G4C2 repeats in Turkish patients with FTLD. The present findings suggest that pathogenic expansions of the C9orf72 repeat are uncommon in Turkish patients with FTLD, but intermediate repeats may be a risk factor for FTLD and act as a genetic modifying factor for psychotic symptoms.
Abstract Purpose: To establish the frequency of IDH2 mutations in primary glioblastoma at a popul... more Abstract Purpose: To establish the frequency of IDH2 mutations in primary glioblastoma at a population level. Experimental Design: We screened primary glioblastoma in a population-based study for IDH2 mutations and correlated them with clinical data. Results: No IDH2 gene mutation was detected in tumor samples. Since the analyzed tumor samples were the primary GBMs, the data of undetected IDH2 gene mutation was in agreement with the literature. Conclusion: In summary, our study is the first study to investigate the IDH2 status in primary GBMs in Turkish patients. Anaplastic astrocytoma or glioblastoma patients with IDH1/IDH2 mutations have been reported to be younger than those carrying the wild-type allele. Accordingly IDH1/IDH2 mutations were observed more frequently in patients at an early age. In our study, mutations were not detected in our study group, thus a statistical ratio cannot be derived. The average age for our patient sample was 54.5 ± 2.
OBJECTIVE Genome-wide association studies have revealed that single nucleotide polymorphisms (SNP... more OBJECTIVE Genome-wide association studies have revealed that single nucleotide polymorphisms (SNPs) are associated with atrial fibrillation (AF) and can predict AF recurrence after catheter ablation in different populations. However, there exists no such data for the Turkish population. We aimed to investigate whether 11 SNPs in the PITX2, ZFHX3, EPHX2, CAV1, TBX5, TGF-1, and SCN10A were related to AF and whether these SNPs can predict long-term atrial tachyarrhythmia (ATa) recurrence after pulmonary vein isolation (PVI) for AF in Turkish patients. METHODS A total of 245 consecutive patients with non-valvular AF (44.9% men, mean age: 60.2±13.2 years, 65.3% paroxysmal AF) and 50 age- and sex-matched controls were included in this analysis. The clinical features and genetic variants were compared between the 2 groups. Of the 245 patients, 128 who underwent PVI with second-generation cryoballoon were further examined for long-term recurrence after the procedure. RESULTS Four SNPs in PI...
BACKGROUND Celiac disease (CD) is an immune-mediated enteropathy characterized by lifelong gluten... more BACKGROUND Celiac disease (CD) is an immune-mediated enteropathy characterized by lifelong gluten intolerance. Interleukin-15 (IL- 15) is a proinflammatory cytokine that is considered a key component in the immune reaction triggered by gluten. Our aim of this study was to evaluate the influence of IL-15 gene polymorphisms on CD development and clinical presentation. METHODS The study was enrolled-with 90 CD patients (49 female/41 male, median years of age 11), their 38 siblings (20 female/18 male, median years of age 8), and 99 healthy controls (66 female/33 male, median years of age 13). Their demographic findings, symptoms, and signs histopathological grade, Human Leukocyte Antigen (HLA) types were recorded. IL-15 gene polymorphisms rs2857261, rs10519613, and rs1057972 were analyzed through PCR. RESULTS There was a significantly higher frequency of GG genotype in rs2857972 polymorphisms and TT genotype in rs1057972 polymorphisms in celiac families compared to controls [41% vs. 23%...
Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD... more Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD) pathogenesis after the observation of clear evidence of immune responses close to the basal ganglia of PD patients. Although receptor of advanced glycation end-products (RAGE) has been implicated in several studies as an inflammation marker in PD; RAGE gene polymorphisms is infrequently examined. Thirty single-nucleotide polymorphisms (SNPs) including G82S (rs2070600) located in 3rd exon, -374T/A (rs1800624), -429T/C (rs1800625) and 63bp ins/del in the promoter region of the gene which may have marked effects on the expression or function of RAGE have been described to date. Objective: To evaluate the association of RAGE gene polymorphisms with PD in a Turkish cohort. Methods: Totally, 174 PD patients and 150 healthy-individuals were included into the study. Genotype analyses were performed using PCR-RFLP and ARMS methods. Results: 429T>C, 374T>A, and 82G>S polymorphisms showe...
Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The ex... more Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The expansion of a noncoding GGGGCC (G4C2) hexanucleotide repeat in the C9orf72 gene is a major cause of both familial FTLD and amyotrophic lateral sclerosis. The aim of this study was to determine the prevalence of C9orf72 G4C2-repeat expansion in a Turkish population with FTLD and to determine its effects on the phenotype. The G4C2 expansion in the C9orf72 gene was analyzed in 100 cases of FTLD without mutations of the MAPT, PGRN, CHMP2B, VCP, TARDBP, and FUS genes and 100 age-matched healthy controls by using repeat-primed polymerase chain reaction and fragment length analysis techniques. A possible pathogenic repeat (≥30) was found in one of the familial cases (1/33), but none of the sporadic cases. The difference in the allele length between the cases and controls was statistically significant (p &lt; 0.01). Intermediate (20–30) repeats were detected in 4% of our cases. Patients with psychotic symptoms appear to be enriched for intermediate and possibly pathogenic repeats. To determine whether the intermediate and ≥30-repeat allele carriers shared the C9orf72 risk haplotype, we examined rs4879515 and rs3849942 in all samples and family members of patients with possibly pathogenic alleles. We identified at least one risk allele for each single-nucleotide polymorphism in all intermediate and possibly pathogenic repeat carriers. We observed that ≥8 unit repeats were strongly correlated with the tagging risk alleles for both single-nucleotide polymorphisms (p &lt; 0.001). To our knowledge, this is the first study to evaluate C9orf72 G4C2 repeats in Turkish patients with FTLD. The present findings suggest that pathogenic expansions of the C9orf72 repeat are uncommon in Turkish patients with FTLD, but intermediate repeats may be a risk factor for FTLD and act as a genetic modifying factor for psychotic symptoms.
Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The ex... more Frontotemporal lobar degeneration (FTLD) describes a group of progressive brain disorders. The expansion of a noncoding GGGGCC (G4C2) hexanucleotide repeat in the C9orf72 gene is a major cause of both familial FTLD and amyotrophic lateral sclerosis. The aim of this study was to determine the prevalence of C9orf72 G4C2-repeat expansion in a Turkish population with FTLD and to determine its effects on the phenotype. The G4C2 expansion in the C9orf72 gene was analyzed in 100 cases of FTLD without mutations of the MAPT, PGRN, CHMP2B, VCP, TARDBP, and FUS genes and 100 age-matched healthy controls by using repeat-primed polymerase chain reaction and fragment length analysis techniques. A possible pathogenic repeat (≥30) was found in one of the familial cases (1/33), but none of the sporadic cases. The difference in the allele length between the cases and controls was statistically significant (p < 0.01). Intermediate (20–30) repeats were detected in 4% of our cases. Patients with psyc...
International Journal of Research Studies in Medical and Health Sciences, 2018
Aim: The glutathione-S-transferases (GSTs) refers to a group of detoxification enzymes that are p... more Aim: The glutathione-S-transferases (GSTs) refers to a group of detoxification enzymes that are pivotal components of the cellular defense against oxidative stress and the expressions of GST isoforms have been shown in human skin. This study was planned to determine the effects of GST polymorphisms on the molecular etiology of the lichen planus (LP).
Materials and Methods: The study group consisted of 55 patients with LP and 98 age- and sex-matched healthy unrelated controls. GSTM1 and GSTT1 genotypes were determined by multiplex PCR, GSTP1 polymorphisms by using PCR-RFLP technique.
Results: GSTM1, GSTT1 and GSTP1 polymorphisms showed significant differences between the patients and controls. We also found that the GSTT1 deletions were more predominant in the patients who had been treated with combined treatments.
Conclusion: GSTM1 and GSTT1 null genotypes and from A to G transition in the 105th position of GSTP1 may play an important role in the physiopathology of LP. Moreover, the relation between the GSTT1 polymorphism and the response of the patients to the treatment protocols should be evaluated in detail in the use of new approaches including antioxidant mechanisms in the unresponsive cases to the standard protocols.
To investigate the effect of klotho gene and β-glucuronidase activity on stone formation in patie... more To investigate the effect of klotho gene and β-glucuronidase activity on stone formation in patients with urinary tract stone disease (UTSD). A total of 103 patients with UTSD and 102 controls with no specific urolithiasis history were enrolled into the study. G395A and C1818T polymorphisms of klotho gene were analyzed with PCR method. Serum levels of calcium and phosphorus and 24-h urine levels of β-glucuronidase activity, calcium and phosphorus levels were measured biochemically. A total of 103 of patients were male (50.2 %) and 102 were female (49.8 %) (p 0.945). Twenty-four-hour urine levels of calcium were significantly higher in UTSD group, whereas no difference was observed in phosphorus levels (p &amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001, p 0.074, respectively). As for the G395A polymorphism, type of GG was significantly higher in the patient group compared to the controls (p = 0.02), while GA genotype was significantly higher in the controls (p = 0.001). There was no significant difference in F352V and C1818T polymorphism between the patient and control groups. β-glucuronidase activity was slightly lower in the patient group without significance (p 0.932).When patients with GG genotype and the rest were compared, there were no significant difference in all parameters. Any polymorphism altering the function of klotho gene may result with stone formation. We found that there are more GG sequences of G395A gene in patients with UTSD. That may be a polymorphism of klotho gene which results with stone formation. Further studies with more patients should be accomplished which are combining the genetic and epigenetic factors associated with urolithiasis and klotho gene to enlighten the etiology of this disease.
Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% ... more Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% of invasive breast cancers are infiltrating ductal and lobular carcinomas respectively. Method: In this study the promoter methylation levels of TWIST, RARβ2, ESR1, GSTP1 and CDH1 genes which are associated with breast cancer were investigated by Quantitative Methylation Sensitive High Resolution Melting Analysis (QMS-HRM). We analysed primary tumor core biopsies from 80 high-risk primary breast cancer patients (tumors ≥2 cm and/or lenfatic me¬tastase and/or distant metastases and/or under 40 years) and their histo¬pathologic types were associated with the methylation levels. Results: In our study the promoter hypermethylation status were obser¬ved at different rates; TWIST, RARβ2, ESR1, GSTP1 and CDH1 methylation frequencies were 25%, 88,75% 72,5%, 82% and 95% respectively. When comparing the promoter hypermethylation of tumor types of the breast, RARβ2, ESR1, GSTP1 and CDH1 genes found...
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Papers by Oğuz Çilingir
Materials and Methods: The study group consisted of 55 patients with LP and 98 age- and sex-matched healthy unrelated controls. GSTM1 and GSTT1 genotypes were determined by multiplex PCR, GSTP1 polymorphisms by using PCR-RFLP technique.
Results: GSTM1, GSTT1 and GSTP1 polymorphisms showed significant differences between the patients and controls. We also found that the GSTT1 deletions were more predominant in the patients who had been treated with combined treatments.
Conclusion: GSTM1 and GSTT1 null genotypes and from A to G transition in the 105th position of GSTP1 may play an important role in the physiopathology of LP. Moreover, the relation between the GSTT1 polymorphism and the response of the patients to the treatment protocols should be evaluated in detail in the use of new approaches including antioxidant mechanisms in the unresponsive cases to the standard protocols.
Materials and Methods: The study group consisted of 55 patients with LP and 98 age- and sex-matched healthy unrelated controls. GSTM1 and GSTT1 genotypes were determined by multiplex PCR, GSTP1 polymorphisms by using PCR-RFLP technique.
Results: GSTM1, GSTT1 and GSTP1 polymorphisms showed significant differences between the patients and controls. We also found that the GSTT1 deletions were more predominant in the patients who had been treated with combined treatments.
Conclusion: GSTM1 and GSTT1 null genotypes and from A to G transition in the 105th position of GSTP1 may play an important role in the physiopathology of LP. Moreover, the relation between the GSTT1 polymorphism and the response of the patients to the treatment protocols should be evaluated in detail in the use of new approaches including antioxidant mechanisms in the unresponsive cases to the standard protocols.