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Öğe Association of Myeloperoxidase Gene Functional Variant with Schizophrenia and Smoking in a Turkish Population(2020) Pehlivan, Sacide; Çetinay, Pınar; Uysal, M. Atilla; Nursal, Ayşe Feyda; Kurnaz, Selin; Sever, Ulgen; Pehlivan, MustafaObjective: Etiopathogenesis of schizophrenia (SCZ) involves several risk genes that induce inflammation, environmental stress factors and changes in the innate immune system. Patients with SCZ have the highest rate of cigarette smoking and severe nicotine dependence. Myeloperoxidase (MPO), a member of subfamily of peroxidases, is most abundantly expressed in immune cells. The aim of this study was to investigate the relationship between the MPO rs2333227 variant and SCZ/smoking etiopathogenesis. Method: The study included 54 patients with SCZ, 94 smokers and 92 healthy controls. MPO rs2333227 variant was genotyped by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method. Odds ratio (OR) and 95% confidence interval (95%CI) were calculated using the ?2 test. Results: G/G and G/A genotypes of MPO rs2333227 were detected in our study samples. The frequencies of the G/G and G/A genotypes were 53.7%, 46.3%; 56.3%; 43.7%; 68.9%, 31.1% in SCZ patients, smokers, and the control group, respectively. The allele frequencies were G: 76.9% (SCZ patients), 77.4% (smokers) 83.7% (controls); A: 23.1% (SCZ patients), 22.6% (smokers), and 16.3% (controls). There was no significant difference between the SCZ patients, smokers and controls regarding MPO rs2333227 variant either in terms of allele frequency or genotype frequency. Then we genotyped the groups as women and men. MPO rs2333227 variant genotype distribution did not differ between men and women (p>0.05). Conclusion: This study does not support the role of MPO rs2333227 variant in increasing genetic risk for SCZ/smoking in Turkish population.Öğe Association of XRCC1 and XPD functional gene variants with nicotine dependence and/or schizophrenia: a case-control study and in silico analysis(Taylor and Francis Ltd., 2019) Pehlivan, Sacide; Aydın, Nizamettin; Nursal, Ayşe Feyda; Uysal, Mehmet Atilla; Pehlivan, Mustafa; Tekcan, Akın; Yavuz, Fatih Kasım; Sever, Ülgen; Yavuzlar, Hazal; Kurnaz, Selin; Uysal, Seda; Çetinay Aydın, PınarOBJECTIVE: The role of DNA repair mechanisms has received attention recently in schizophrenia (Sch). Sch patients show an increased prevalence of nicotine dependence (ND). This study aimed to find out whether functional SNP variants in the XRCC1 and the XPD play any role both in ND and Sch + ND etiopathogenesis in a Turkish population which was followed up with an in silico analysis approach. METHODS:XRCC1 rs25487 and XPD rs13181 variants were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). In the prediction of pathogenic effect of rs25487 and rs13181 SNPs, the PANTHER and SNPs&GO programs were used. Also, the protein–protein interaction analysis was performed to retrieve functional partners of the XRCC1 and XPD protein. RESULTS:XRRC1 rs25487 GG genotype was significantly lower in both ND and Sch + ND groups than the controls (p =.001, p =.006) while G allele was lower only in Sch + ND group comparison to controls (p =.034). XPD rs13181 Lys/Lys genotype was more lower in both Sch + ND and ND groups than in controls (p =.007; p =.001). XPD rs13181 Gln allele was lower in Sch + ND group compared to controls while Lys allele was higher in ND group than controls, respectively (p =.034; p =.008). The results of in silico prediction analysis showed that the rs25487 had neutral effect while the rs13181 had a disease-related effect. CONCLUSIONS: The results of the current study revealed a possible genetic association between XRCC1/XPD variants and both in ND and Sch + ND. We think that analysis of this missense SNPs using bioinformatics methods would help diagnosis of XRCC1 and XPD-related diseases. © 2018, © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.Öğe CYP2A6 gene variants may explain smoking status in a Turkish cohort(Taylor and Francis Ltd., 2018) Pehlivan, Sacide; Uysal, Mehmet Atilla; Çağatay, Tülin; Nursal, Ayşe Feyda; Kekik Çınar, Çiğdem; Erkan, Feyza; Sever, Ülgen; Bingöl, Züleyha; Pehlivan, Mustafa; Pençe, SadrettinOBJECTIVE: Nicotine is the main addictive agent present in tobacco and is principally metabolized by a cytochrome P450-mediated oxidation process. While smoking patterns differ widely among smokers, the metabolization rate of nicotine can also be affected by variations in rates of enzyme activity between individuals. Therefore, we aimed to investigate the significance of CYP2A gene variants in the smoking status in a Turkish population using next-generation sequencing (NGS). METHODS: This case–control study involved 64 subjects with Nicotine dependence (ND) and 36 Non-smoker (NS) subjects. Amplicants designed by “Primer-BLAST” programme were all sequenced using the “Illimuna-MiseqQ-platform”. RESULTS: It was found that there were five SNPs in the CYP2A6 gene (rs8192725, rs7248240, rs1809810, rs8192733 and rs28399435). CYP2A6 rs1809810 homozygous TT genotype and T allele were seen in lower percentages in ND group compared to the NS group (p =0.045; p =0.021). Individuals with CYP2A6 rs1809810 TT genotypes and T allele showed odds ratio of 4.760 and 5.360 for developing protective role ND, respectively. CYP2A6 rs8192733 CC genotype and C allele were both lower in ND group (respectively p =0.001, p =0.023) while GC genotype was higher in the ND group (p =0.004). CYP2A6 rs28399435 TT genotype and T allele were more common in the ND group (respectively p =0.001, p =0.001). CYP2A6 rs28399435 CC genotype was lower in the ND group than in the NS group (p =0.010). CONCLUSIONS:CYP2A6 rs1809810, rs8192733, rs28399435 could be genetic risk factors for ND in a Turkish population. © 2018, © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.Öğe Do UCP2, IL-17, mi196a2, and NR3C1 gene variants contribute to the risk of microtia? A preliminary study in Turkish population(Elsevier Science Bv, 2018) Ozdilli, Kursat; Bekerecioglu, Mehmet; Nursal, Ayse Feyda; Pehlivan, Mustafa; Sever, Ulgen; Buyukgural, Berker; Pehlivan, Sacide[Abstract Not Available]Öğe Effect of the IL-17F rs763780 Variant on Chronic Lymphocytic Leukemia and Multiple Myeloma Risk in a Turkish Cohort(2018) Nursal, Ayşe Feyda; Pehlivan, Mustafa; Kurnaz, Selin; Pehlivan, SacideIntroduction: Chronic lymphocytic leukemia (CLL) is one of the most common leukemias in developed countries. Multiple myeloma (MM), a clonal plasma cell disease, is the second most prevalent hematological cancer. Interleukin-17 (IL-17) can facilitate the secretion of numerous proinflammatory cytokines. The goal of the present study was to evalu-ate the effect of IL-17F rs763780 on CLL/MM susceptibility in a Turkish cohort. Methods: The study included 37 patients with CLL, 21 patients with MM, and 100 healthy controls. The IL-17F rs763780 variant was genoty-ped using polymerase chain reaction-restriction fragment length poly-morphism (PCR-RFLP). The frequencies of the alleles and genotypes in patient and control groups were compared by the ?2 test. Results: No significant difference was found in the distribution of ge-notypes and alleles frequencies for IL-17F rs 763780 between the pati-ents and the healthy controls (P>0.05).Conclusion: Our results suggest that IL-17 rs763780 variant may not contribute to CLL and MM pathogenesis.Öğe eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia(Comenius University, 2017) Pehlivan, Sacide; Uysal, Mehmet Ali; Aydın, Pelin C.; Pehlivan, Mustafa; Nursal, Ayşe Feyda; Yavuzlar, Hazal; Kurnaz, Serdar; Sever, Ülgen; Yavuz, Ferhat K.; Uysal, Sezer; Aydın, NazanBACKGROUND: This study aimed to evaluate whether VNTR variants in the Endothelial Nitric Oxide Synthase (eNOS) and the XRCC4 gene play any role in nicotine dependence (ND) and/or Schizophrenia+ND (Sch+ND) ethiopathogenesis. METHODS: Present study included 100 individuals with ND, 60 patients with Sch+ND, and 70 healthy controls. These variants were analyzed using PCR. RESULTS: The cases with ND had higher eNOS VNTR-BB genotype than the healthy control subjects (p = 0.001). eNOS-AA genotype was lower in cases with Sch+ND and ND groups compared to the controls (p = 0.001, p = 0.001, respectively). eNOS-B allele was found significantly more frequently in Sch+ND group compared to the controls (p = 0.001). eNOS-A allele was significantly lower in ND group than the controls (p = 0.001). XRCC4-ID genotype was more common in the ND group than the control group (p = 0.001) as heterozygosity disadvantage. XRCC4-DD genotype was more common in the Sch+ND group compared to the controls (p = 0.035). The frequency of XRCC4-I allele was lower in the Sch+ND group compared to the controls (p = 0.012). CONCLUSIONS: Our results showed that eNOS and XRCC4 VNTR variants might play a potential role in Sch+ND and/or ND pathophysiology.Öğe Global and glucocorticoid receptor gene-specific (NR3C1) DNA methylation analysis in patients with cannabinoid or synthetic cannabinoid use disorder(Elsevier Ireland Ltd, 2021) Pehlivan, Sacide; Aytac, Hasan Mervan; Aydin, Pinar Cetinay; Nursal, Ayse Feyda; Pehlivan, MustafaThis study investigates the relationship between cannabinoid use disorder (CUD) or synthetic cannabinoid use disorder (SCUD) and the global methylation, methylation of NR3C1 gene promotor, and NR3C1 BclI poly-morphism, considering clinical parameters. Based on the DSM-5 criteria, 172 SCUD patients? and 44 CUD pa-tients? diagnoses were confirmed with a positive urine test; 88 healthy volunteers were also included in the study. Global DNA methylation was measured using a 5-methylcytosine (5-mC) DNA ELISA Kit. Methylation-specific PCR was used to identify the methylation of the NR3C1 gene. The analysis of the BclI polymorphism of the NR3C1 gene was evaluated by using the PCR-RFLP. Our results demonstrated that the mean of 5-mC percentages of SCUD patients differed significantly from those of the control group. When comparing NR3C1 gene methyl-ation and clinical parameters due to NR3C1 genotype distribution in patients, the genotype distribution was significantly different between the groups, due to the former polysubstance abuse. Additionally, there was a significantly positive correlation between the 5-mC percentages of SCUD patients and the reported durations of their disorders. In summary, whereas global DNA methylation may be associated with SCUD, the methylation of the NR3C1 gene and NR3C1 BclI polymorphism were not related to CUD or SCUD.Öğe Impact of UCP2 -866G/A Variant on Smoking Risk(2021) Nursal, Ayşe Feyda; Uysal, M. Atilla; Pehlivan, Mustafa; Sever, Ulgen; Pehlivan, SacideObjective: Mitochondria are multifunctional and dynamic organelles found in cells. Nicotine is a natural alkaloid found in the tobacco plant and has been well studied as a component of cigarette smoke. It has also been reported to affect mitochondrial function both in vitro and in vivo. Uncoupling protein 2 (UCP2) reduces generation of ROS by mitochondria. Our purpose in this study was to investigate whether the -866G/A variant of the UCP2 gene is associated with smoking status. Methods: A total of 238 individuals consisting of 138 smokers and 100 healthy controls were examined. The UCP2-866G/A variant was genotyped by polymerase chain reaction-restriction fragment length polymorphism method. Results: The proportion of individuals carrying the three possible genotype was significantly different between the smoker and healthy control groups. The UCP2-866G/A variant GG genotype was associated significantly with an increased risk of smoking (p=0.001) while AA genotype was associated significantly with a decreased risk of smoking (p=0.001). The UCP2-866G/A variant G allele was found to be increased in the smoker group compared to the healthy controls (p=0.001). Conclusion: Our data suggest that the UCP2-866 G/A variant GG genotype and G allele might reflect the risk of smoking status in a Turkish populationÖğe Investigating the eNOS and IFN-gamma Gene Variants Susceptible to Bipolar Disorder or Schizophrenia in a Turkish Cohort(Turkish Assoc Psychopharmacology, 2020) Pehlivan, Sacide; Aytac, Hasan Mervan; Ciftci, Hayriye Senturk; Oyaci, Yasemin; Pehlivan, Mustafa; Nursal, Ayse FeydaBackground: Schizophrenia (Sch) and bipolar disorder (BD) are debilitating chronic psychiatric disorders that are both etiologically and clinically heterogeneous. According to the gathered evidence, multiple mental disorders are accompanied by inflammation. Interferon-gamma (IFN-gamma), as a regulatory cytokine, is involved in the immune response as a proinflammatory mediator. Several critical physiological functions are regulated and governed by nitric oxide (NO) in the central nervous system. This study aimed to investigate the association between IFN-gamma +874T/A and eNOS 894G/T variants and Sch or BD susceptibility. Methods: Blood samples were collected from patients and healthy subjects. IFN-gamma +874T/A and eNOS 894G/T variants were genotyped with the PCR-RFLP. We evaluated the patients with some clinical parameters (the duration of the disorder, age of onset, number of hospitalizations, family history, tobacco smoking or drug, alcohol usage). Statistical analyses were performed using the SPSS version. Results: When the genotype distributions and allele frequencies of the IFN-gamma +874T/A and eNOS 894G/T in the patients diagnosed with Sch or BD were compared with the control group, there were not found to be significant differences between the groups. When comparing IFN-gamma +874T/A and eNOS 894G/T genotype distributions and allele frequencies of Sch or BD patients due to clinical parameters, the genotype distribution of IFN-gamma +874T/A in BD patients was significantly different between the groups due to the presence of tobacco smoking (OR: 0.217, 95%Cl: 0.054-0.878; p = 0.032). Conclusions: To the best of our knowledge, this is the first study that examines the association between the IFN-gamma and eNOS gene variants and Sch or BD in a Turkish population. Although IFN-gamma +874T/A and eNOS 894G/T variants are not considered as candidate genes for Sch or BD, the results indicated that the BD patients carrying IFN-gamma +874T/A AA genotype were less susceptible to tobacco smoking in a Turkish population.Öğe Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?(2020) Pehlivan, Sacide; Akaltun, Mazlum Serdar; Pehlivan, Mustafa; Gürsoy, Savaş; Nursal, Ayşe FeydaAim: Ankylosing spondylitis (AS) is an autoimmune disease caused by chronic inflammatory response. Complement system is the major component of the innate immune defence. In this study, we investigated the potential association between complement factor H (CFH) gene Tyr402His variant (rs1061170) with AS in a Turkish population. Methods: Seventy-eight AS patients and 80 healthy individuals were enrolled in the present study as case and control subjects, respectively. The Tyr402His variant of CFH gene was analysed by PCR-RFLP method. Results: There was no statistically significant difference between AS patients and healthy controls in terms of CFH Tyr402His genotype and allele frequencies. However, the visual analogue scale (VAS) daytime and the AS Quality of Life (ASQoL) were significantly different according to CFH Tyr402His genotype distribution (p=0.032 and p=0.036, respectively). VAS of daytime and ASQoL were higher in subjects carrying Tyr402His variant Tyr/Tyr + Tyr/His genotypes compared to those carrying His/His genotype. Conclusion: This is the first study evaluating the association between CFH Tyr402His and susceptibility to AS in a Turkish population. Although CFH Tyr402His variant was not considered a candidate gene for AS susceptibility in our samples, some clinical findings seem to be associated with genotype distribution of CFH Tyr402His variant.Öğe Is there any Association between the Functional Variants of the NOS3 Gene and Psoriasis?(Aves, 2018) Pehlivan, Sacide; Inaloz, Huseyin Serhat; Nursal, Ayse Feyda; Gulel, Aslihan; Pehlivan, MustafaIntroduction: Psoriasis (Ps) is a chronic, immune-mediated inflammatory skin disorder with an incompletely understood etiology. The aim of this study was to investigate the relationship between the suspectibility to Ps and G894T (rs1799983) and variable number tandem repeat (VNTR) variants of the endothelial nitric oxide synthase (NOS3) gene. Methods: This is a case-controlled study that included 74 Ps patients in addition to 74 matched healthy unrelated controls from the same locality. The NOS3 gene variants were analyzed by polymerase chain reaction (PCR) and/or PCR-restriction fragment lenght polymorphism (PCR-RFLP). Results: The NOS3 G894T TT genotype and T allele were more common in the Ps group compared to the healthy controls (p=0.000, p=0.001, respectively). The NOS3 VNTR variant BB genotype and B allele were higher in the patient group than in the control group (p=0.005, p=0.000 respectively). The NOS3 VNTR AA genotype was lower in the patient group (p=0.027). However, a stratified analysis including arthritis, the Ps area and severity index (PASI), the age of onset, and family history revealed no significant correlation between the NOS3 G894T and NOS3 VNTR genotypes (p>0.05). Conclusion: These results suggest that the NOS3 G894T and VNTR variants are associated with Ps in a Turkish cohort. However, future studies are needed to understand the genetic role of the NOS3 variants in the development of Ps.Öğe Is there any Association between the Functional Variants of the NOS3 Gene and Psoriasis?(2018) Pehlivan, Sacide; İnalöz, Hüseyin Serhat; Nursal, Ayşe Feyda; Gülel, Aslıhan; Pehlivan, MustafaIntroduction: Psoriasis (Ps) is a chronic, immune-mediated inflammatory skin disorder with an incompletely understood etiology. The aim of this study was to investigate the relationship between the suspectibility to Ps and G894T (rs1799983) and variable number tandem repeat (VNTR) variants of the endothelial nitric oxide synthase (NOS3) gene. Methods: This is a case-controlled study that included 74 Ps patients in addition to 74 matched healthy unrelated controls from the same locality. The NOS3 gene variants were analyzed by polymerase chain reaction (PCR) and/or PCR- restriction fragment lenght polymorphism (PCR-RFLP). Results: The NOS3 G894T TT genotype and T allele were more common in the Ps group compared to the healthy controls (p=0.000, p=0.001, respectively). The NOS3 VNTR variant BB genotype and B allele were higher in the patient group than in the control group (p=0.005, p=0.000 respectively). The NOS3 VNTR AA genotype was lower in the patient group (p=0.027). However, a stratified analysis including arthritis, the Ps area and severity index (PASI), the age of onset, and family history revealed no significant correlation between the NOS3 G894T and NOS3 VNTR genotypes (p>0.05). Conclusion: These results suggest that the NOS3 G894T and VNTR variants are associated with Ps in a Turkish cohort. However, future studies are needed to understand the genetic role of the NOS3 variants in the development of Ps.Öğe Medication-related osteonecrosis of the jaw (MRONJ) and eNOS Polymorphisms in multiple myeloma patients: a single center experience(Bmc, 2021) Tas Ozyurtseven, Betul; Serin, Istemi; Nursal, Ayse Feyda; Pehlivan, Sacide; Pehlivan, MustafaBackground Multiple myeloma (MM) constitutes approximately 10% of hematological malignancies. Bisphosphonates have established themselves in solid organ metastasis and multiple myeloma lytic bone lesions by inhibiting osteoclast activation. Medication-related osteonecrosis of the jaw (MRONJ) emerges as an important complication. Investigating host-based factors, and developing personal risk factors gain importance in the development mechanism of MRONJ. We aimed to reveal the different genotype polymorphisms, and clinical effects of eNOS in patients with a diagnosis of MRONJ in MM patients. Methods Medical records and blood samples were collected from 60 MRONJ patients with MM and 60 healthy controls. Inclusion criteria was having an exposed maxillofacial bone for more than eight weeks, a history of bisphosphonates, and no history of radiation therapy for the jaws. eNOS G894T and intron 4 VNTR were calculated by polymerase chain reaction and/or restriction fragment length polymorphism. Results eNOS G894T and VNTR genotypes and alleles were compared statistically with the healthy control group. There was no significant difference between the two groups. In comparison between G894T and clinical parameters, aphthous stomatitis was more common in TT genotype, while DMFT > 3 was more common in TG-GG genotype (p = 0.035, 0.023). Conclusions eNOS induces osteogenesis in bone metabolism, with its regulatory effects on bone remodeling and also NO induced angiogenesis takes place indirectly with its protective effect on endothelial functions. We see that these polymorphisms affecting the entire process of bone remodeling and angiogenesis, especially mucosal damage, which is the triggering factor of MRONJ pathology, have been revealed in the MM patient group. Considering the MRONJ initiating factors, it is necessary to emphasize the importance of our study results. It should be seen as an important step for new studies towards MRONJ and its treatment.Öğe mi196a2 T/C variant as possible predisposal factor for ankylosing spondylitis in a Turkish population(Elsevier Science Bv, 2018) Pehlivan, Sacide; Gursoy, Savas; Nursal, Ayse Feyda; Akaltun, Mazlum Serdar; Ozdilli, Kursat; Pehlivan, Mustafa[Abstract Not Available]Öğe PER3 VNTR variant and susceptibility to smoking status/substance use disorder in a Turkish population(Univ Sao Paulo, Inst Psiquiatria, 2020) Nursal, Ayse Feyda; Aydin, Pinar Cetinay; Uysal, Mehmet Atilla; Pehlivan, Mustafa; Oyac, Yasemin; Pehlivan, SacideBackground: Substance use and smoking exert devastating impact on sleep, especially hindering the ease of falling asleep, compromising the sleep maintenance, and distorting the sleep cycles. PERIOD genes are believed to play a role in individual differences in sleep timing by influencing circadian. Objective: The aim of this study was to ascertain whether Per3 VNTR variant affects suspectibility of individuals to substance use disorder (SUD) and smoking status in a Turkish population. Methods: A total of 549 subjects, including 212 SUD patients, 160 smoker, and 177 healthy controls, matched by ethnicity, age, and gender, were recruited in a case-control study. Genotyping of Per3 variant was performed using PCR method. Results: When the SUD, smoker groups and controls were compared in terms of 5R/5R, 5R/4R, 4R/4R genotypes, no significant difference was observed. Besides, allele frequencies of Per3 VNTR were similar among the groups. Discussion: Our data indicate that Per3 VNTR variant is not associated with the risk of SUD and smoking status in our population.Öğe Possible association between DNA repair gene variants and cannabis dependence in a Turkish cohort: a pilot study(Taylor and Francis Ltd., 2018) Pehlivan, Sacide; Yazıcı, Ahmet Bülent; Aydın, Nazan; Nursal, Ayşe Feyda; Kurnaz, Selin; Öngel Atar, Ayça; Sever, Ülgen; Kıncır, Zeliha; Pehlivan, Mustafa; Çetinay Aydın, PınarOBJECTIVE: Substance use disorder (SUD) has important effects on health and well-being. It is well known that genetic factors play a role in SUD. The purpose of this research was to investigate whether functional variants of DNA repair genes might be a risk factor for cannabis and/or synthetic cannabis dependence in a Turkish cohort. METHODS: In total, 131 patients with cannabis and/or synthetic dependence and 70 healthy controls were included in this case–control study. XRCC1 codon 399 (rs25487) and XRCC4 G1394 T (rs6869366), and XPD (rs13181) variants were determined by the polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). RESULTS: The XRCC1 rs25487 GG genotype and G allele were significantly lower in patients compared to controls (p = 0.005; p = 0.002, respectively). XRCC4 rs6869366 TT genotype and T allele were more common in patients compared to controls (p = 0.001, p = 0.001, respectively). It was found that patients with XPD rs13181 Lys/Gln had a significantly higher risk of cannabis dependence than control did (p = 0.00). The subjects carried XPD rs13181 Gln/Gln genotype had a 2.2-fold increased risk for cannabis dependence (p = 0.010). CONCLUSIONS: We demonstrated for the first time that DNA repair gene variants may alter individual vulnerability for SUD. This observation could be of further interest to researchers, as it could suggest new candidate genes, presumably crucial for the etiopathogenesis of the cannabis and/or synthetic cannabis dependence. © 2018, © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.Öğe Role of MIF-173G/C and Mbl2 Codon 54A/B Variants in the Risk of Multiple Myeloma: An Association Study(Bentham Science Publ Ltd, 2021) Pehlivan, Mustafa; Nursal, Ayse Feyda; Gundes, Ilknur; Oyaci, Yasemin; Kivanc, Demet; Pehlivan, SacideBackground: Multiple myeloma (MM) is a malignant disease manifested by the clonal proliferation of atypical plasma cells. Macrophage inhibitory factor (MIF) is one of the pleiotropic regulators in various biological and cellular processes. Mannose-binding lectin (MBL) is a crucial protein involved in the lectin pathway of the immune system. Objective: We aimed to assess whether variants of MIF and MBL2 genes are associated with MM among a Turkish population. Methods: We analyzed the MIF-173G/C (rs755622) and MBL2 codon 54A/B (rs1800450) variants in 200 patients with MM and 200 healthy control subjects using a polymerase chain reaction (PCR) followed by restriction endonuclease digestion. There was also an evaluation of the patients undergoing autologous stem-cell transplantation (ASCT) for these variants. Results: AA and BB genotypes of MBL2 codon 54A/B increased in the patients as compared to the controls (p=0.008, p=0.001, respectively). The subjects carrying AA and BB genotypes of MBL2 were at high risk of development of susceptibility to MM by 7.377 and 8.812 times, respectively. The distribution of MBL2 codon 54A/B alleles was similar between the groups (p>0.05). There was no statistical difference between the patients and controls in the genotype and allele frequencies of the MIF173G/C variant (p>0.05). The patients undergoing ASCT, MBL2 codon 54A/B AA and BB genotypes also showed association with increased risk for MM (p=0.004, p=0.001, respectively). Conclusion: As far as we know, this is the first report of the study on an association between these variants and MM in our population. Our results indicate that the MBL2 codon 54A/B variant may be associated with susceptibility to MM.Öğe The endothelial nitric oxide synthase gene variants as a risk factor for chronic lymphocytic leukemia(Akademi Doktorlar Yayınevi, 2017) Pehlivan, Mustafa; Tomatır, Ayşe G.; Nursal, Ayşe Feyda; Şahin, Handan H.; Pehlivan, SacideNitric oxide (NO) plays complicated roles in carcinogenesis. Endothelial nitric oxide synthase (eNOS) gene is responsible for most of the NO produced. For this reason, it was considered that the eNOS gene variants is associated with cancer suspectibility. The aim of this study was to determine whether eNOS variants (G894T and intron 4 VNTR a/b) affect in Chronic Lymphocytic Leukemia (CLL) risk in Turkish patients. This is a prospective single-center crosssectional study in patients with CLL. A total of 60 CLL patients and 100 healthy controls with similar age and sex were included to this study. Two eNOS gene variants (G894T and intron 4VNTR a/b) were analysed with polymerase chain reaction (PCR) and/or restriction fragment length polymorphism (RFLP) methods. In this study, we found that the TT genotype of eNOS G894T variant was significantly associated with an increased risk in patient with CLL compared with control (OR: 0.867, Cl: 0.785-0.957, p= 0.001). There was not any significant difference in the eNOS G894T allele distribution between the groups (p> 0.05). In addition, no significant difference was detected between the CLL patients and healthy controls with respect to the frequencies of genotypes and alleles in intron 4 VNTR a/b variant of eNOS. eNOS gene variants (G894T and intron 4 VNTR a/b) in CLL patients were simultaneously analyzed for the first time in present study. Our study suggest that the eNOS G894T variant may be associated with the development of CLL in the Turkish population. © 2017, UHOD - Uluslararasi Hematoloji Onkoloji Dergisi. All rights reserved.Öğe The MIF rs755622 Variant may Increase Susceptibility of Breast Cancer but not Gastrointestinal Cancer in a Turkish Population(2020) Pehlivan, Sacide; Işıksaçan, Nilgün; Pehlivan, Mustafa; Günaldı, Meral; Oyacı, Yasemin; Nursal, Ayşe FeydaOBJECTIVE An increasing number of epidemiological and molecular evidence proposes that inflammation is a significant factor in the etiology of cancers. Macrophage Migration Inhibitory Factor (MIF) encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It has been reported that MIF is linked with a higher risk of several cancer types. In the present study, we investigated the association of MIF rs755622 variant with the risk of breast cancer (BC) and gastrointestinal cancer in a Turkish cohort. METHODS The present study included a total of 153 subjects, which consisted of 33 BC patients, 53 gastrointestinal cancer patients and 67 healthy controls. Genomic DNA extracted from peripheral venous blood. The rs755622 variant of the MIF gene was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The results were statistically analyzed by calculating the odds ratios (OR) and 95% confidence intervals (CI) using the ?2 test. RESULTS There was a statistical difference between the BC patients and controls for the MIF rs755622 variant. MIF rs755622 GG genotype and G allele were increased in BC patients compared to controls (p=0.016, p=0.017, respectively). No significant difference was observed between gastrointestinal cancer patients and controls for the MIF rs755622 variant (p>0.05). CONCLUSION Our results showed that the MIF rs755622 variant might play a potential role in BC physiopathology.Öğe THE miR-196a2T/C VARIANT AS A POSSIBLE PREDISPOSING FACTOR FOR ANKYLOSING SPONDYLITIS IN A TURKISH POPULATION(2020) Pehlivan, Sacide; Gürsoy, Savaş; Nursal, Ayşe Feyda; Akaltun, Mazlum Serdar; Özdilli, Kürşat; Pehlivan, MustafaObjective: Ankylosing spondylitis (AS) is a chronic inflammatory disorder. MicroRNAs (miRNAs) can function as either oncogenes or tumor suppressor genes. Altered miRNA expression has been implicated in the pathogenesis of several diseases. Therefore, we aimed to explore the effects of miR-196a2T/C (rs11614913) variant profile on susceptibility to AS in a Turkish population. Materials and Methods: Blood samples were collected from 78 AS patients and 79 healthy controls. miR-196a2T/C variant was genotyped by PCR-RFLP. Odds ratio (OR) with 95% confidence interval (95%CI) were calculated using the ?2 test. Results: The frequency of T/C and T/T genotypes of the miR- 196a2T/C were higher in AS patients compared to healthy controls (p=0.034 and p=0.028, respectively). The subjects carrying the miR-196a2T/C variant T/T genotype showed a 2.542-fold increased AS risk than the control group. However, no difference was observed in the allele frequencies of miR-196a2T/C between AS patients and the controls. It was found that C/C genotype of miR-196a2T/C variant was more frequent in AS patients with enthesitis than AS patients without enthesitis (p=0.042). factor for increased susceptibility to AS and is associated with enthesitis in the Turkish population.
