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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 Dopamine D4 Receptor Gene Exon III VNTR Variant influences smoking status in Turkish population(Turkish Neuropsychiatric Society, 2019) Uysal, Mehmet Atilla; Sever, Ülgen; Nursal, Ayşe Feyda; Yedikule Smoking Cessation Study Group; Pehlivan, SacideIntroduction: Dopaminergic gene variants may affect nicotine dependence through their possible impact on the dopamine reward pathway. The purpose of this study is to investigate the relationship between the variable number tandem repeat (VNTR) variant in exon III of the Dopamine D4 receptor (DRD4) gene and genetic predisposition of smoking status in a Turkish population. Methods: We performed a study comparing 154 subjects as the smoker group, and 111 subjects as the non-smoker group. Genotyping for the DRD4 VNTR variant was performed using a PCR method. Results: There was a significant difference between smoker and nonsmoker groups regarding the distribution of the alleles and genotypes of the DRD4 gene (p=0.000, p=0.000, respectively). The 2R allele was higher in the non-smoker group compare to the smoker group (p=0.000). We found that the 2/7 and 4/9 genotypes were more common in smokers than non-smoker group (p=0.037, p=0.028, respectively) while 2/4 genotype was more prevalent in non-smokers than smokers (p=0.000). When the number of repeat alleles (48 bp) are accepted as short (S) if six or less, and as long (L) if seven or more, it was found that the frequency of S/S genotype of the DRD4 VNTR variant was lower in the smoker group and S/L genotype was higher in the smoker group (p=0.006, p=0.006, respectively). The subjects carrying the S/L genotype have a 2.25-fold increased risk for smoking than a non-smoker. Conclusion: The results indicated that the subjects carrying DRD4 exon III VNTR S/L genotype have a risk for smoking status in a Turkish population.Öğe Dopamine D4 Receptor Gene Exon III VNTR Variant Influences Smoking Status in Turkish Population(2019) Uysal, Mehmet Atilla; Sever, Ülgen; Nursal, Ayşe Feyda; Group, Yedikule Smoking Cessation Study; Pehlivan, SacideIntroduction: Dopaminergic gene variants may affect nicotine dependence through their possible impact on the dopamine reward pathway. The purpose of this study is to investigate the relationship between the variable number tandem repeat (VNTR) variant in exon III of the Dopamine D4 receptor (DRD4) gene and genetic predisposition of smoking status in a Turkish population. Methods: We performed a study comparing 154 subjects as the smoker group, and 111 subjects as the non-smoker group. Genotyping for the DRD4 VNTR variant was performed using a PCR method. Results: There was a significant difference between smoker and nonsmoker groups regarding the distribution of the alleles and genotypes of the DRD4 gene (p=0.000, p=0.000, respectively). The 2R allele was higher in the non-smoker group compare to the smoker group (p=0.000). We found that the 2/7 and 4/9 genotypes were more common in smokers than non-smoker group (p=0.037, p=0.028, respectively) while 2/4 genotype was more prevalent in non-smokers than smokers (p=0.000). When the number of repeat alleles (48 bp) are accepted as short (S) if six or less, and as long (L) if seven or more, it was found that the frequency of S/S genotype of the DRD4 VNTR variant was lower in the smoker group and S/L genotype was higher in the smoker group (p=0.006, p=0.006, respectively). The subjects carrying the S/L genotype have a 2.25-fold increased risk for smoking than a non-smoker. Conclusion: The results indicated that the subjects carrying DRD4 exon III VNTR S/L genotype have a risk for smoking status in a Turkish population.Öğe Effect of monoamine oxidase B A644G variant on nicotine dependence and/or schizophrenia risk(Universidade de Sao Paulo, 2019) Pehlivan, Sacide; Çetinay Aydın, Pınar; Uysal, Mehmet Atilla; Şentürk Çiftçi, Hayriye; Sever, Ülgen; Yavuz, Fatih Kasım; Aydın, Nazan; Nursal, Ayşe FeydaObjectives Schizophrenia (Sch) is a severe and chronic mental illness. Smoking prevalence is higher in patients with Sch than general population. We aimed to investigate the effects of MAOB gene A644G variant on nicotine dependence (ND) and Sch+ND risk in Turkish population and to evaluate by bioinformatic analysis. Methods Present study included 161 individuals with ND, 223 patients with Sch+ND, and 96 non-smoker controls. MAOB A644G variant was analyzed using PCR-RFLP method. As the MAOB gene is located on the X chromosome, each gender was analysed separately. Results The total distributions of AA, AG and GG genotypes of MAOB gene A644G were 44.7%, 22.4% and 32.9% in the ND group, 45.3%, 25.1% and 29.6% in the Sch+ND group and, 44.8, 22.9% and 32.3% in non-smoker controls. No significant differences were observed between groups for the MAOB A644G genotype and allele frequencies when female group compared to male group (p > 0.05). Examination of disease associations of SNPs from each miRNA gene region in GWAS databases yielded results for aging, bipolar disorder, autoimmune, and neurological diseases. Discussion Our results indicate that the MAOB gene A644G variant is not associated with ND and/or Sch susceptibility in the Turkish population. © 2019, Universidade de Sao Paulo. All rights reserved.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 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 XRCC4 rs6869366 polymorphism is associated with susceptibility to both nicotine dependence and/or schizophrenia(Universidade de Sao Paulo, 2018) Pehlivan, Sacide; Uysal, Metin Atilla; Aydın, Nazan; Nursal, Ayşe Feyda; Pehlivan, Mustafa; Yavuzlar, Hazal; Sever, Ülgen; Kurnaz, Selin; Yavuz, Fatih Kasım; Uysal, Suna; Çetinay Aydın, PınarBackground: Oxidative stress induced DNA damage has been assumed to contribute to the etiopathogenesis of schizophrenia (Sch). Smoking prevalence was more common in patients with Sch. The X-ray repair cross-complementation group 4 (XRCC4) gene plays an important role in the repair of DNA double-strand breaks. Objective: The purpose of this study was to investigate whether XRCC4 rs6869366 polymorphism has a relationship both in nicotine dependence (ND) and Sch+ND risk. Methods: One hundred and four patients with Sch+ND, 133 subjects with ND only and 70 healthy controls were enrolled in the study. XRCC4 rs6869366 polymorphism was analyzed using PCR-RFLP assay. Results: The frequency of XRCC4 rs6869366 GG genotype was more common in the ND and Sch+ND group than controls (p = 0.001 and p = 0.001, respectively). XRCC4 rs6869366 TT genotype was lower in both ND and Sch+ND group compared to controls (p = 0.001 and p = 0.001, respectively). Also, XRCC4 rs6869366 G allele was higher in Sch+ND group than controls (p = 0.001) while XRCC4 rs6869366 T allele was lower in ND group than healthy controls (p=0.001). XRCC4 rs6869366 GT genotype was lower in ND group than control group (p = 0.003). Discussion: These results suggested that the XRCC4 rs6869366 polymorphism G related genotype/allele was associated with susceptibility to both ND and Sch+ND in a Turkish population. © 2018, Universidade de Sao Paulo. All rights reserved.
