Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin.

BACKGROUND: This study examines genetic variations in CYP2E1 (rs6413432, rs3813867), GCKR (rs780094, rs1260326), and PNPLA3 (rs738409) among Turkish patients to assess their influence on nonalcoholic steatohepatitis. METHODS: Allele and genotype frequencies were compared between 245 NASH patients and 120 healthy controls using SNP genotyping via polymerase chain reaction-restriction fragment length polymorphism. Additionally, the deviation of the observed genotype frequencies from Hardy-Weinberg proportion was examined. RESULTS: No significant differences were found in the allelic and genotypic distributions of rs6413432, rs3813867, and rs780094 between NASH patients and healthy controls. However, significant disparities were noted for rs1260326 and rs738409. Gender and age-specific distributions showed no notable differences. The only observed deviation from Hardy-Weinberg proportion was in the genotype frequency of rs738409. CONCLUSIONS: Variants in GCKR (rs1260326) and PNPLA3 (rs738409) are significantly associated with increased NASH risk in the Turkish population, with the rs738409 variant potentially playing a more prominent role in NASH development.

Ovarian functions and polycystic ovary syndrome in adult women with type 1 diabetes mellitus in a Turkish population.

PURPOSE: The effect of gonadotropin-releasing hormone agonist (GnRHa) stimulation has not been studied in adult women with type 1 diabetes mellitus (DM). We investigated the baseline and stimulated hormone levels after GnRHa and the frequency and relationship between polycystic ovary syndrome (PCOS) and type 1 DM in adult women with type 1 DM. METHODS: We included 55 adult women (age, 17-35 years) with type 1 DM and 15 healthy women (age, 20-29 years). Hormones including total testosterone, androstenedione, dehydroepiandrosterone sulphate (DHEAS), follicle-stimulating hormone (FSH), luteinising hormone (LH), estradiol, prolactin, and thyroid-stimulating hormone were measured in the early follicular phase of the menstrual cycle. All participants underwent GnRHa stimulation test, and FSH, LH, estradiol and 17-OHP response levels were measured every 6 h for 24 h. PCOS was diagnosed according to ESHRE/ASRM (Rotterdam) criteria. RESULTS: Between patients with type 1 DM and healthy controls, no significant differences were noted in mean age and body mass index (BMI) as well as baseline and stimulated hormone levels after buserelin stimulation, except for baseline serum 17-OHP levels, which was higher in patients with type 1 DM. Polycystic ovary morphology (PCOM) was detected in 14 (25%) patients, clinical hyperandrogenism in 16 (29%), hyperandrogenemia in 25 (45%), anovulatory cycle in 72%, and PCOS in 20 (36%). CONCLUSION: All parameters representing androgen excess disorders, except 17-OHP level, of both groups were similar, and frequencies of PCOS and anovulatory cycle in adult women with type 1 DM were 36% and 72%, respectively.

Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.

Background: Thalassemia, as the most common single-gene genetic disorder, is related to a defect in the synthesis of one or more hemoglobin chains. More than 200 mutations have been identified in the ß-globin gene. Globally, every susceptible racial group has its own specific spectrum of the common mutations that are well-known to a particular geographic region. On the other hand, varying numbers of diverse rare mutations may occur. Materials and Methods: The subjects of the study included 2113 heterozygote or homozygote ß-thalassemia cases selected among couples who participated in the Iranian national thalassemia screening program from January 2011 to November 2019. Molecular characterization of the ß-thalassemia mutation was initially carried out by the amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR) technique for common mutations, followed by sequencing, Gap PCR, and Multiple ligation-dependent probe amplification (MLPA) methods - in cases not detected by the ARMS-PCR. Results: The existence of 39 rare and new point mutations and 4 large deletions were described in our cohort. Sicilian (-13,337bp) deletion, CD36/37 (-T), and CD15 TGG>TGA were encountered more often than the others in a decreasing order, in terms of frequency. The least frequent mutations/deletions were deletion from HBD exon 1 to HBB promoter, 619 bp deletion, Deletion from up HBBP1-Exon3 HBBP1 and up HBB-0.5Kb down HBB, CAP+8 C>A, CD37 (G>A), CD6 (-A), IVSI-2 (T>C), IVSII-705 T>G, and IVSII-772 (G>A). Each occurred once. Five mutations/variants were also determined which have not been reported previously in Iran. Conclusion: According to the findings of the study, the Northwestern Iranian population displayed a wide variety of thalassemia allelic distributions. Identification of rare and new mutations in the ß-thalassemia in the national population is beneficial for screening programs, genetic counseling, and prenatal diagnosis.

Safety and efficacy of trifluridine/tipiracil in previously treated metastatic colorectal cancer: PRECONNECT Turkey.

Background: The efficacy and safety of trifluridine/tipiracil (FTD/TPI) for third-line treatment of metastatic colorectal cancer have been demonstrated. The authors present the Turkish post hoc analysis of the PRECONNECT study. Methods: An international, multicenter, single-arm, open-label, phase IIIb trial evaluating FTD/TPI in patients with ≥2 previous lines of chemotherapy for metastatic colorectal cancer was conducted. The primary end point was safety. Results: In this Turkish cohort (n = 100; eight centers), the most frequent treatment-emergent adverse event was neutropenia (48%). Median progression-free survival was 3.0 months; disease control rate was 36%; quality of life remained stable. Conclusion: Outcomes with FTD/TPI in Turkey are consistent with previous studies and confirm the efficacy and safety of FTD/TPI treatment in the third-line setting. Clinical Trial Registration: NCT03306394 (ClinicalTrials.gov).

Frailty in community-dwelling older adults: reliability and validity of the Turkish version of the Gérontopôle frailty screening tool.

BACKGROUND: Recognizing frailty had a great importance in countries with an increasing geriatric population. The study aims to evaluate the reliability and validation of the Gérontopôle frailty screening tool (GFST), which was developed to screen frailty in the community-dwelling older adults, for the Turkish population. METHODS: In this crosssectional study, participants who applied to the geriatrics outpatient clinic of a university hospital were included. Comprehensive geriatric assessments of all patients were performed. The validity of the GFST was tested by its concordance with the FRAIL scale. Test-retest and interrater reliability analyses were made. RESULTS: Ninety-six patients were included in the study. Sixty-one and five-tenths percent (n = 59) of them are females. The median age was 72.0 (IQR: 10.0). There was a moderate concordance between the GFST and the FRAIL scale (Cohen's kappa: 0.566, p < 0.001). The Gérontopôle frailty screening tool interrater and retest reliabilities were excellent (Cohen's kappa: 0.814, p < 0.001 and 1.0, p < 0.001; respectively). The sensitivity of the GFST determined according to the FRAIL scale is 69.39%, the specificity is 86.36%, the positive predictive value is 85.00%, and the negative predictive value is 71.70%. DISCUSSION: The Gérontopôle frailty screening tool, which can be used by all healthcare professionals, is a valid and reliable tool for the Turkish geriatric population.

Type 2 diabetes is associated with the MTNR1B gene, a genetic bridge between circadian rhythm and glucose metabolism, in a Turkish population.

Type 2 diabetes (T2D) is a complicated public health problem in Turkey as well as worldwide. Genome-wide approaches have been guiding in very challenging situations, such as the elucidation of genetic variations underlying complex diseases such as T2D. Despite intensive studies worldwide, few studies have determined the genetic susceptibility to T2D in Turkish populations. In this study, we investigated the effect of genes that are strongly associated with T2D in genome-wide association (GWA) studies, including MTNR1B, CDKAL1, THADA, ADAMTS9 and ENPP1, on T2D and its characteristic traits in a Turkish population. In 824 nonobese individuals (454 T2D patients and 370 healthy individuals), prominent variants of these GWA genes were genotyped by real-time PCR using the LightSNiP Genotyping Assay System. The SNP rs1387153 C/T, which is located 28 kb upstream of the MTNR1B gene, was significantly associated with T2D and fasting blood glucose levels (P < 0.05). The intronic SNP rs10830963 C/G in the MTNR1B gene was not associated with T2D, but it was associated with fasting blood glucose, HbA1C and LDL levels (P < 0.05). The other important GWA loci investigated in our study were not found to be associated with T2D or its traits. Only the SNP rs1044498 (A/C variation) in the ENPP1 gene was determined to be related to fasting blood glucose (P < 0.05). Our study suggests, consistent with the literature, that the MTNR1B locus, which has a prominent role in glucose regulation, is associated with T2D development by affecting blood glucose levels in our population.

Prevalence of the fabella and its general characteristics in Turkish population with magnetic resonance imaging.

INTRODUCTION: The fabella is a fibrocartilaginous or ossified sesamoid bone in the knee, largely located in the lateral tendon of the head of the gastrocnemius muscle. In this study, the prevalence, gender differences, localization and size of the fabella were determined in a Turkish population to make a comparison with other population studies in the literature. MATERIALS AND METHODS: Thousand patients (500 females, 500 males) who underwent knee magnetic resonance imaging (MRI) with fabella in all three planes, including axial, sagittal and coronal evaluated, retrospectively. All MRI examinations were performed using a 1.5 T unit. Patients with a history of trauma or operation, motion artifacts and patients who could not be evaluated due to image quality were excluded. Anteroposterior diameter in sagittal plan (sAP) of the fabella and the fabella-femur distance was measured. Measurements were evaluated with Pearson's Chi-squared and Mann-Whitney U test for non-homogeneous data in SPSS program, and ANOVA test for homogeneous data. A p value of < 0.05 was considered significant in all analyses. RESULTS: The overall prevalence of fabella was found to be 155 cases. Unilateral fabella was detected in 72.9% of the cases, of which 56.6% were on the right side and 43.4% were on the left side. The median value of AP diameter in sagittal plan was calculated as 4.40 ± 1.31 mm. Concerning the gender-related examination the sAP diameter of the fabella was larger in men than in women (p < 0.05). The median value of FFD was calculated as 2.50 ± 0.50 mm. The distribution of FFD between genders was not statistically significant (p = 0.492). CONCLUSION: The fabella is usually a sesamoid bone that can be detected incidentally by imaging techniques. The incidence in the Turkish population is 15.5%, and no gender difference was detected. It is clear that further studies on the basis of populations are needed, especially considering that pathological problems remain in question and there is a lack of scientific data (variations, developmental characteristics, etc.) on sesamoid bones.

Validation of the Turkish version of the power of food scale in adult population.

PURPOSE: The Power of Food Scale (PFS) is a tool for measuring the hedonic impact of food environments rich in palatable foods. The purpose of this study was to validate the Turkish version of PFS (PFS-Tr) in a large adult population. METHODS: Data were obtained from 505 Turkish adults aged between 19 and 64 years. The PFS-Tr and Dutch Eating Behavior Questionnaire (DEBQ) were completed by all participants. RESULTS: PFS-Tr compared with the original English version of PFS, items 5 and 13, which showed the highest error covariance under the food available factor. To provide general criteria, items 5 and 13 were removed. After these two items were removed, the Cronbach's alpha coefficient was 0.922 for PFS-Tr and Cronbach's alpha values for "food available", "food present", and "food taste" were found to be 0.849, 0.797, and 0.82, respectively. Besides, the Cronbach's alpha coefficient was 0.93 for DEBQ. In addition, a linear association was found between BMI and mean score of PFS-Tr with a model fit (R2 = 0.02) and PFS-Tr was positively correlated with DEBQ (r 0.497 p < 0.001). CONCLUSION: This is the first study that validates and reports the Turkish version of PFS and the results of our study show that PFS-Tr is a valid and reliable tool for determining the tendency for the hedonic hunger in Turkish adult population. LEVEL OF EVIDENCE: Level V, cross-sectional descriptive study.

Prevalence of hypercementosis and frequency of possible etiological factors in a Turkish subpopulation.

OBJECTIVE: The aim of this study was to investigate the prevalence and types of hypercementosis and the frequency of possible etiological factors in a large sample of Turkish central Anatolian population. SUBJECTS AND METHODS: A cross-sectional study was performed using panoramic radiographs of 1176 randomly selected adult patients with an age range of 18-96 years, who presented to the Department of Oral and Maxillofacial Radiology of the Faculty of Dentistry, Cumhuriyet University (Sivas, Turkey) for dental care. Patients were questioned about the presence of systemic diseases. Panoramic radiographs of the patients were examined for the presence and types of hypercementosis (diffuse, focal and shirt sleeve cuff) and the frequency of local factors that may be associated with hypercementosis. Chi-square and t-tests were used for statistical analysis. RESULTS: Hypercementosis was detected in 128 of 1176 patients. In total, 85.6% of the teeth with hypercementosis had a diffuse, 7.5% had a focal, and 6.8% had a shirt sleeve cuff type. Hypercementosis was observed most frequently in the mandibular (P < 0.05) and the premolar region. Gender-related differences were nonsignificant (P > 0.05). Atherosclerosis, osteoporosis, and multiple diseases were reported more frequently in individuals with hypercementosed teeth (P < 0.05). While idiopathic origin (39.3%), bruxism (30%), and inflammation (24.37%) were the most prevalent local etiological factors, impacted teeth (1.25%) and history of trauma (0.62%) were less common. CONCLUSION: The prevalence of hypercementosis was 10.8% in the study population. The lesions were more common in the mandibule. Idiopathic origin was the most common factor associated with hypercementosis.

Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population.

OBJECTIVE: Evaluation of Complement Factor I (CFI) rs10033900 and rs2285714 polymorphism frequencies in patients with age-related macular degeneration (AMD) and healthy controls in a Turkish population. METHODS: A total of 111 eyes of 111 AMD patients and 96 eyes of 96 healthy controls, only one eye of individuals, were included in the study; however, 2 patients' and 4 controls' samples were excluded as analyses could not be performed for rs10033900 polymorphism. The AMD patients and control group (>50 years) lacked corneal, lenticular, vitreal opacity. However, these patients did not have any retinal diseases apart from AMD. Venous blood samples of patients were collected. Central macular thickness, subfoveal choroidal thickness (SCT), presence of reticular drusen, epiretinal membrane, and pigment epithelial detachment were investigated using Spectral-Domain Optical Coherence Tomography, and the largest diameter of atrophic areas measured. Drusen properties were documented from fundus photographs. The lesion width was calculated by using fundus fluorescein angiography. RESULTS: There was no difference between patient and control groups and polymorphism distributions. The frequency of the CT allele was higher in patients with dry-type AMD with retinal pigment epithelial abnormality (p = 0.041). SCT was significantly thinner in TT allele carriers with rs2285714 polymorphism (p = 0.030). No significant relationship was found between the other parameters and polymorphism distributions. Con-clusion: CFI rs10033900 and rs2285714 polymorphisms in a Turkish population were not associated with AMD.

Novel variants in Turkish patients with glycogen storage disease.

BACKGROUND: Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis. The aim of this study was to determine specific gene mutations in our cases with GSD. METHODS: Thirty-eight patients with clinical and laboratory diagnoses of GSD were studied. Thirty-two patients had undergone genetic analysis. In our study, a next-generation sequencing panel was used. RESULTS: Five novel variants of uncertain significance (VUS), which were likely to be pathogenic, were detected in seven patients. Two new pathogenic variations of c.927delT (p.Phe309LeufsTer4) homozygous and c.44C>G (p.Ser15Ter) homozygous in the G6PC gene were detected in two GSD type Ia patients. In our two non-sibling GSD type III patients, c.1439T>G (p.Leu480Arg) homozygous novel-VUS was detected in the AGL gene. In our GSD type IV patient, c.1054G>C (p.Asp352His) homozygous novel-VUS was detected in the GBE1 gene. In GSD type VI, two sibling patients had a c.1454A>G (p.Asn485Ser) homozygous novel-VUS change in the PYGL gene. CONCLUSIONS: We determined the gene mutations specific to cohorts in our cases with GSD. The novel pathogenic, likely pathogenic, and VUS changes identified will contribute to the relationship between the patients' clinical and laboratory findings.

The role of vitamin D receptor gene polymorphisms in the pathogenesis of Behçet's disease: A case-control study in Turkish population.

BACKGROUND: Behçet's disease (BD) is an inflammatory disorder characterized by oral aphthous lesions, uveitis, and genital ulcerations. The vitamin D receptor (VDR) has a crucial role in the pathogenesis of this disease because it mediates the functions of vitamin D in the immune system. Alterations of VDR expression related to polymorphic alleles of the VDR gene may play a pathogenic role in BD and BD's clinical presentations. METHODS: 150 BD patients and 150 healthy controls were included and genotyping was carried out by polymerase chain reaction/restriction fragment length polymorphism. RESULTS: Significant differences between patients and controls in rs1544410, rs2228570, and rs731236 genotypes were observed (respectively, p = 0.04, p = 0.007, p = 0.012). The clinical characteristics of BD patients were evaluated and patients with ocular lesions had a higher percentage of rs1544410 A alleles (p = 0.004), and patients with oral aphthous lesions, a positive pathergy tests, and arthritis had more rs2228570 C alleles than patients without these clinical findings (respectively, p < 0.001, p = 0.021, p = 0.045). CONCLUSION: VDR gene polymorphisms may possibly have a role in the pathogenesis of BD through their effects on VDR expression and may be associated with the increased risk of several clinical findings.

Female gender specific association of the Reelin (RELN) gene rs7341475 variant with schizophrenia.

RELN gene encodes a large extracellular matrix protein which is critical for neuronal migration, cell positioning and cell-cell interactions. It also controls the synaptic plasticity of neurons for initiation and maintenance of long term potentiation. The aim of this study is to investigate the association of RELN rs7341475 variant with schizophrenia. Genomic DNA isolation was performed from 105 schizophrenic patients and 137 healthy controls to determine RELN rs7341475 genotypes. Genotype and allele frequencies were determined by a polymerase chain reaction-restriction fragment length polymorphism method developed in our laboratory. Statistical analysis was performed using χ2 test. The frequencies for G allele were 79.5% in cases and 81.0% in controls, for A allele 20.5% in cases and 19.0% in controls in the overall population. The genotype frequencies of the RELN gene rs7341475 variant were GG; 63.8%, GA; 31.4% and AA; 4.8% in cases, GG; 63.5%, GA; 35.0% and AA; 1.5% in controls in the overall population. There was no statistically significant association between the rs7341475 variant of RELN gene and schizophrenia in the overall population (χ2 = 2.473, p = 0.290). In the gender specific analysis, female gender specific association was only found. The RELN rs7341475 variant GG genotype was significantly associated with schizophrenia (p = 0.034, OR 2.760, 95% CI 1.058-7.197) and A allele was protective against schizophrenia (p = 0.034, OR 0.362, 95% CI 0.139-0.945). All cases and controls were in Hardy-Weinberg equilibrium (p > 0.05). Population size can be increased to improve the statistical power. Moreover, other RELN gene variants which are especially involved in neuronal migration and epigenetic regulation may be analyzed for revealing the complex genetic architecture of schizophrenia. In conclusion, there was only association between the RELN rs7341475 variant and schizophrenia in the female gender in a Turkish population.

APECED in Turkey: A case report and insights on genetic and phenotypic variability.

APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. We further performed literature review in 23 published Turkish APECED patients and noted that Finnish major mutation R257X is common in Turks. In particular, we assessed retrospectively how often the Ferre/Lionakis criteria would have resulted in earlier diagnosis in Finns, Sardinians and Turks in respect to the classic criteria. Since an earlier diagnosis could have been possible in 18.8% of Turkish, in 23.8% of Sardinian and 38.55% of Finnish patients we reviewed from literature, Ferre/Lionakis criteria could indeed allow in future earlier initiation of immunomodulatory treatments, if found effective in future studies.

The role of DENND1A and CYP19A1 gene variants in individual susceptibility to obesity in Turkish population-a preliminary study.

Single nucleotide polymorphisms (SNPs), the most common genetic variations in human genome, can manage the predisposition of certain complex diseases or situations such as obesity. Genetic polymorphisms also play an important role as they can impact a population's susceptibility to being overweight or obese and developing related chronic complications such as hypertension, coronary heart disease, diabetes and cancer. The present study comprised of 193 unrelated healthy volunteers (120 females and 73 males) with Turkish origin. Only female adolescents (n = 110) were divided into 2 categories according to their BMI values as overweight (BMI ≥ 25) and normal (18.5 < BMI < 25) according to WHO classification. Genomic DNA was isolated from venous blood samples and genotyping of DENND1A rs10818854 and CYP19A1 rs2414096 variants was performed on Roche Light Cycler 2.0 Real-Time PCR platform. Serum hormone levels were analyzed by Electrochemiluminescent Immunoassay (ECLIA; Roche diagnostics). The genotype distributions were consistent with the Hardy-Weinberg equilibrium for both SNPs in the studied population (p > 0.05). The genotype distribution of DENND1A rs10818854 was determined for the first time in Turkish population and the variant allele frequency was found as 0.095. According to reduced sex hormone-binding globulin levels and increased free androgen index in the present study, obesity was linked with hyperandrogenism in female subjects. Both polymorphisms were investigated as potential genetic susceptibility markers for obesity and neither DENND1A nor CYP19A1 showed any associations.

Detection of the unknown components of the oral microflora of teeth with periapical radiolucencies in a Turkish population using next-generation sequencing techniques.

AIM: To detect the unknown components of the oral microbiome and the effects of root canal treatment in a Turkish population and to evaluate the changes in microbial diversity in the root canals before and after treatment. METHODOLOGY: Single-rooted central and lateral maxillary incisors with one canal were chosen from 20 patients. Baseline samples of intact intracanal microbiota were collected from 20 root canals of permanent teeth with necrotic pulps using sterile paper points. After root canal preparation, the root canals were filled with a calcium hydroxide paste for 7 days. Calcium hydroxide was removed from root canal with 2.5% sodium hypochlorite and 17% EDTA using passive ultrasonic irrigation (PUI). A second bacteriologic samples were taken with sterile paper points prior to root filling. The samples were processes with DNase-I treatment using next-generation sequencing (NGS). Reduction in bacterial numbers during root canal treatment was evaluated using real-time quantitative PCR (qPCR). All statistical analyses were conducted using the MINITAB 17 software (Minitab Ltd. Co., Coventry, UK). A one-sample t-test was used to analyse the data. Statistical significance was accepted at P < 0.05. RESULTS: Relative abundances of Mycoplasma sp., Paludibacter sp., Tannerella sp., Prevotella spp. and an uncultured species from the order Bacteroidales decreased with root canal preparation and medication (98.7%, 99.8%, 98.8%, 97.7% and 99.3%, respectively), whilst the relative abundances of Methylobacterium sp., Corynebacterium sp. and Streptococcus infantis increased (93.1%, 94.8% and 99.4%, respectively). Considerable numbers of Streptophyta species were detected before and after treatment. The ratio of Agrobacterium sp. in the treated teeth community and the ratio of order Streptophyta in the infected canals had negative correlations with the success of bacterial elimination. CONCLUSIONS: The combination of NGS and qPCR techniques resulted in detection of previously unknown components of the oral microbiome and the effects of root canal treatment on their relative abundance in a Turkish population.

Evaluation of normal tibial tubercle to trochlear groove distance in adult Turkish population.

PURPOSE: Many studies have confirmed the significance of tibial tuberosity-trochlear groove (TTTG) distance measurement for the preoperative assessment of tibial tubercle osteotomy and refixation of the patients that need surgery. TTTG distance is being used as threshold value for surgery decision. The purpose is to determine the TTTG values for the adult Turkish population and compare this with the values of other studies and establish a possible index. MATERIALS AND METHODS: This study was conducted on 200 patients (97 female, 103 male) aged between 18 and 65 years, retrospectively, who had magnetic resonance imaging at Istanbul Medipol Mega University Hospital Radiology Department. Individuals with no knee surgical history and deformation included to research group, any deformities related with knee were excluded. The scans were analyzed in Picture Archiving Communication System program and compared with other populations. Significance was evaluated with independent Student's t-test. RESULTS: The mean TTTG distance was found 10.07 ± 1.60 mm in males, 9.96 ± 1.41 mm in females, and 10.02 ± 1.51 mm for total cases. There was no statistically significant difference between sex (P > 0.05). However, overall TTTG distance of right and left knees found significantly different (P < 0.05). CONCLUSION: Obtained results are similar with the results of Caucasian population but different than Asian. It is believed that these results will be significant in evaluation of patellofemoral disorders and helpful in treatment.

Association of cytochrome P4502E1 and NAD(P)H:quinone oxidoreductase 1 genetic polymorphisms with susceptibility to large artery atherosclerotic ischemic stroke: a case-control study in the Turkish population.

Stroke, a major cause of death and disability, is described as interruption or severe reduction of blood flow in cerebral arteries. Oxidative stress plays an important role in the pathogenesis of atherosclerosis and carotid atherosclerosis is a risk factor for stroke. Combination of multiple environmental and genetic risk factors is thought to increase stroke. Therefore, investigation of the polymorphisms of enzymes is of crucial importance to determine the molecular etiology of the disease. To test this hypothesis, we performed a case-control study in which we compared the distribution of CYP2E1 and NQO1 genotypes between 245 large artery atherosclerotic ischemic stroke patients and 145 controls, using PCR-RFLP. A significant difference was observed between stroke patients and controls with respect to the CYP2E1*5B genotype (odds ratio; OR 8.069, P = 0.011) and allele (OR 7.876, P = 0.011) distribution. However, this polymorphism was not a significant predictor of disease status in logistic regression analysis. NQO1*2 polymorphism genotype distribution was significantly different between patients and controls (P = 0.027) and heterozygote *1*2 genotype was found to be a protective factor against large artery atherosclerotic ischemic stroke in logistic regression analysis (OR 0.562, P = 0.018). This is the first study conducted regarding the association of CYP2E1 and NQO1 genetic polymorphisms and large artery atherosclerotic ischemic stroke risk in Turkish population.

The genetic profiles of CYP1A1, CYP1A2 and CYP2E1 enzymes as susceptibility factor in xenobiotic toxicity in Turkish population.

Evaluation and sequencing of heritable alterations in the human genome and the large-scale identification of gene polymorphism for understanding the genetic background of individuals in response to potential toxicants are provided by toxicogenetics. Cytochrome P450 (CYP) enzymes play role not only phase I-dependent metabolism of xenobiotics but also metabolism of endogenous compounds. CYP1A1, CYP1A2 and CYP2E1 enzymes, which are in phase I enzymes, are responsible for metabolic activation and detoxification of several chemical compounds. In the present study, it was determined the genotype and allele frequency of CYP1A1∗2A, CYP1A2∗1C, CYP1A2∗1F, CYP2E1 and CYP2E1∗6, very common and functional single-nucleotide polymorphisms (SNPs), in Turkish healthy volunteers. It is believed that the determination of polymorphisms in the enzymes may be beneficial to prevent and reduce and adverse effects and death in response to drugs. The allele frequencies of these genes were 24%, 9%, 33%, 42%, and 12%, respectively. In the present study, the genotype profile of Turkish population was determined about critical enzymes for xenobiotic metabolism. It is suggested that the obtained results might be beneficial in order to dose adjustment of drugs and prevention of adverse reactions, and further investigation about mentioned enzymes and their polymorphisms.

CYP2C9, CYPC19 and CYP2D6 gene profiles and gene susceptibility to drug response and toxicity in Turkish population.

Pharmacogenetics is a vast field covering drug discovery research, the genetic basis of pharmacokinetics and dynamics, genetic testing and clinical management in diseases. Pharmacogenetic approach usually focuses on variations of drug transporters, drug targets, drug metabolizing enzymes and other biomarker genes. Cytochrome P450 (CYP) enzymes, an essential source of variability in drug-response, play role in not only phase I-dependent metabolism of xenobiotics but also metabolism of endogenous compounds such as steroids, vitamins and fatty acids. CYP2C9, CYP2C19 and CYP2D6 enzymes being highly polymorphic are responsible for metabolism of a variety of drug groups. In the study, it was determined the genotype and allele frequency of CYP2C9∗2, CYP2C19∗3, CYP2C19∗2, CYP2C19∗3, CYP2C19∗17, CYP2D6∗9 and CYP2D6∗41, very common and functional single-nucleotide polymorphisms (SNPs), in healthy volunteers. The genotype distributions were consistent with the Hardy-Weinberg equilibrium in the population (p > 0.05). It is believed that the determination of polymorphisms in the enzymes may be beneficial in order to prevention or reduction in adverse effects and death. The recessive allele frequencies of CYP2C9∗2, CYP2C19∗3, CYP2C19∗2, CYP2C19∗3, CYP2C19∗17, CYP2D6∗9 and CYP2D6∗41 were 11, 13, 12, 13, 25, 4 and 15%, respectively. According to the obtained results, the carriers of CYP2D6∗9 variant allele should be received higher doses of the drugs metabolizing with this enzyme in Turkish population, while the carriers of other variant alleles do not generally have any requirement of dose regimen.