Yazar "Nursal, Ayşe Feyda" seçeneğine göre listele

Listeleniyor 1 - 20 / 39
  • [ X ]
    Öğe
    ACAN Gene VNTR Polymorphism and Intervertebral Disc Degeneration in a Turkish Population
    (2020) Öz, Tuba; Kaya, İsmail; Nursal, Ayşe Feyda; Aydın, Hasan Emre; Demir, Osman; Yiğit, Serbülent
    Aim: Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. Aggrecan is the major component of intervertebral disk matrix proteoglycan with multiple functional domains. The aim of this study was to investigate the possible association between ACAN (coding aggrecan) gene variable number tandem repeat (VNTR) polymorphism and susceptibility to IVDD. Methods: Two hundred and sixty subjects participated in this study. The disease group comprised 150 patients diagnosed with symptomatic IVDD. The control group consisted of 110 healthy subjects. The ACAN gene VNTR region was analyzed using the polymerase chain reaction (PCR) method. Results: The most common allele in the patient and the control group was 27 repeat allele (49% and 34.55%, respectively). Allele 26 was more frequent in males compared to females (p=0.030). Allele 21 and 23 were more common in ones living in rural areas (p=0.030) while allele 27 was the most frequent in ones living in urban areas (p<0.001). Allele 26, allele 29 and allele 30 were less frequent in the patient group than in the control group (p=0.013, p=0.001 and p=0.001, respectively) while allele 27 was more common in the patient group compared to the control group (p=0.001). Conclusion: Our results showed that ACAN VNTR allele 27 had a positive relationship with IVDD susceptibility in a Turkish population.
  • [ X ]
    Öğe
    Angiotensin converting enzyme gene insertion/deletion variant and familial Mediterranean fever-related amyloidosis
    (Iranian Society of Nephrology, 2018) Nursal, Ayşe Feyda; Türkmen, Ercan; Uzun Kaya, Süheyla; Tekcan, Akın; Sezer, Özlem; Çelik, Sümeyya Deniz; Yiğit, Serbülent
    Introduction. The most important complication of familial Mediterranean fever (FMF) is secondary amyloidosis, which can lead to kidney failure. Genetic variability in the genes of various components of the renin-angiotensin system may play a role in the pathogenesis of the kidney disorders. The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) gene I/D variant and risk of developing FMF-related amyloidosis in Turkish patients. Materials and Methods. A total of 240 individuals consisting of 40 patients with FMF-related amyloidosis, 100 FMF patients without amyloidosis, and 100 healthy controls were recruited. For all of the participants, ACE I/D variant was detected by the polymerase chain reaction using specific primers. Results. A significant difference was found between the patients with FMF-related amyloidosis and the control group as for genotype distribution of ACE I/D variant (P < .05). The ACE D/D and I/D genotypes were more frequent in the patients with FMF-related amyloidosis while the I/I genotype was less frequent in the same patients. The FMF patients (with and without amyloidosis) had significantly higher percentages of the D/D and I/D genotypes than the healthy controls (P < .05). Comparison between the subgroups of FMF patients, divided into those with and without amyloidosis, yielded a significant correlation according to ID+II versus DD genotypes (P < .03, odds ratio, 3.24; 95% confidence interval, 1.05 to 12.01). Conclusions. Based on these observations, the ACE I/D variant D/D genotypes implicate a possible risk in the FMF-related amyloidosis among Turkish population. © 2018, Iranian Society of Nephrology. All rights reserved.
  • [ X ]
    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, Mustafa
    Objective: 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.
  • Küçük Resim
    Öğe
    Association of the TNF-?, IL-2, and IL-2RB gene variants with susceptibility to psoriasis in a Turkish cohort
    (Termedia Publishing House Ltd., 2018) Gülel, Aslıhan; İnaloz, Hüseyin Serhat; Nursal, Ayşe Feyda; Sever, Tuğçe; Pehlivan, Sacide
    Aim of the study: The aim of this study was to investigate the role TNF-?, IL -2, and IL -2RB variants in psoriasis (Ps) and to evaluate the association between these variants and clinical features. Material and methods: A total of 74 psoriatic patients and 74 healthy individuals were genotyped for these variants by PCR and/or RFLP. Results: The AA genotype of TNF-? (-308) was significantly more common in the patients (p = 0.013). TNF-? (-238) AA genotype was significantly increased in the patients (p = 0.028), while the GG genotype was decreased in the patient group, compared to the controls (p = 0.016). IL-2 (-330) variant GG and TT genotype was more common in the patients (p = 0.037, p = 0.009, respectively), while IL-2 (-330) GT genotype was increased in the control subjects (p = 0.001). IL-2 (-330) GG genotype frequency was significantly decreased (p = 0.021) and the TT genotype frequency was significantly increased among patients with psoriatic arthritis in comparison with Ps patients (p = 0.014). IL-2RB TC genotype frequency was significantly decreased and TT genotype frequency was significantly increased in the patients with positive family history of Ps compared to those who had a negative family history (p = 0.017, p = 0.014, respectively). Also, IL-2RB CC genotype was significantly increased among the patients with late-onset Ps in comparison with the early onset Ps group (p = 0.009). The frequency of IL-2 (-330) TT genotype was significantly higher in mild Ps patients than moderate-severe patients (p = 0.043). Conclusions: Our data suggest a potential role of these genes as candidate genes for susceptibility to Ps in a Turkish cohort.
  • Küçük Resim
    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, Pınar
    OBJECTIVE: 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.
  • [ X ]
    Öğe
    C Deletion in Exon 4 Codon 63 of p53 Gene in Turkish Patients with Oral Squamous Cell Carcinoma
    (2020) Tekcan, Akın; Gümüşay, Özge; Nursal, Ayşe Feyda; Yiğit, Serbülent; Yıldız, Serkan; Tümer, Mehmet Kemal
    OBJECTIVE Oral squamous cell carcinoma (OSCC) is the most frequently seen oral malignancy and accounts for up to 80-90% of all malignant neoplasms that occurin the oral cavity. The p53 tumor suppressor gene plays a crucial role in the regulation of the cell cycle. Mutations of the p53 gene havean important role in OSCC carcinogenesis. In this study, we aimed to evaluate the C-deletion mutation in exon 4 codon 63 of p53 gene in Turkish patients with OSCC. METHODS A total of 60 subjects were enrolled in this study, 30 patients with a pathologic diagnosis of OSCC and 30 cases of age and sex-matched healthy controls. Genotyping was performed for all individuals using polymerase chain reaction (PCR) analysis. RESULTS CONCLUSION T he findings showed that the distribution of p53 exon 4 codon 63 C-deletion was significantly different between patient group and control group (p=0.000). It was detected that all patients had C-deletion mutation in exon 4 codon 63 of p53. Our results suggest that C-deletion in exon 4 codon 63 deletion of the p53 gene may play a role in the pathogenesis of human OSCC in a Turkish cohort.
  • [ X ]
    Öğe
    Correlation of HER2/TOP2A Gene Aberrations with RASSF1A/APC Gene Methylation Status in High-Risk Breast Cancer
    (2020) Nursal, Ayşe Feyda; Çilingir, Oğuz; Eroğlu, Onur; Aras, Beyhan Durak; Çiftci, Evrim; Baydemir, Canan; Artan, Sevilhan
    OBJECTIVE Breast cancer (BC) is a heterogeneous malignancy and differs widely among different patients. The aim of this study was to investigate the relationship between the HER2/TOP2A gene aberrations and promoter methylation in RASSF1A/APC genes in patients with high-risk BC. METHODS Formalin-fixed paraffin embedded (FFPE) tissue samples from primary breast tumors (n=60) were assessed. HER2/TOP2A aberrations was evaluated using FISH method. DNA was extracted from FFPE tumor tissues, and Methylation-sensitive high resolution melting (MS-HRM) analysis were performed for RASSF1A/APC genes methylation status. RESULTS HER2 amplification and TOP2A aberration were observed in 15/60 (25%) and 18/60 (30%) cases, respectively. According to the statistical analysis, HER2 amplification was associated with higher tumor grade (p=0.001), PR status (p=0.025), and TOP2A aberrations (p=0.004). RASSF1A and APC methylation were 58/60 (96.6%) and 26/60 (43.3%), respectively. There was a significant correlation between APC methylation and TOP2A aberration. APC gene methylation was significantly more frequent in tumors with TOP2A aberration (p=0.026). CONCLUSION Our results suggested that APC gene promoter hypermethylation was associated with TOP2A gene aberrations in patients with high-risk BC. This may be significant for targeted individual therapy. Additionally, it was confirmed that there was significant association of TOP2A gene aberrations with the HER2 gene amplification seen in BC.
  • Küçük Resim
    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, Sadrettin
    OBJECTIVE: 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.
  • Küçük Resim
    Öğe
    Cytokine gene variants/expressions and non-syndromic microtia – Is there a link?
    (Continuing Education, and Scientific Research Association (CESRA), 2017) Nursal, Ayşe Feyda; Bekerecioğlu, Mehmet; Pehlivan, Sacide; Sever, Tuğçe; Büyükgüral, Berker
    Sitokin gen varyantları/ekspresyonları ve non-sendromik mikrotia - Bir ilişki var mıdır?Amaç: Mikrotianın etyopatogenezinde birçok genetik ve çevreselfaktörler araştırılmasına rağmen hala belirsizlik vardır. Bu çalışmadabir Türk kohortunda pro- ve anti-enflamatuar sitokinlerin [interlökin(IL) 6, IL-10, tümör nekroz faktör alfa (TNF-?), transforme edici büyüme faktörü beta (TGF-?1), İnterferon gama (IFN-?)] varyant/ekspresyonu ve sendromik-olmayan mikrotiaya yatkınlık arasındaki ilişkiyi araştırdık.Yöntem:Çalışmaya akraba olmayan 19 mikrotiyalı olgu ve 40 sağlıklı gönüllü kontrol dahil edildi. Sitokin varyantları dizi spesifik primerpolimeraz zincir reaksiyonu (PCR-SSP) metodu kullanılarak analizedildi. Bulgular:IL-6 (-174) GC genotipi (yüksek ekspresyon) mikrotia vakalarında daha düşükken (p=0.003), IL-6 (-174) GG genotipi (yüksekekspresyon) mikrotia vakalarında kontrolden daha yüksek olarak bulundu (p=0.010). IL-6 (-174) için, GG genotipi taşıyan hastalar mikrotia için 5895 kat yüksek riske sahipti. IFN-? (+874) varyant AA genotip (düşük ekspresyon) mikrotia vakalarında düşüktü (p=0.009). IL6 (-174) C alleli hastalarda kontrollere göre düşükken, G alleli hastagrubunda kontrole göre daha yaygındı (p=0.003). IFN-? (+874) varyant A alleli hastalarda düşükken, T alleli hastalarda daha yaygındı(p=0.017). Sonuç:Burada mikrotia gelişimi için sitokin varyantlarının risk faktörü teşkil edeceğini ilk defa gösterdik. Sonuçlarımız IFN-?(+874) veIL-6 (-174) varyantlarının Türk toplumunda mikrotia gelişimi ile ilişkili olabileceğini öne sürmektedir.
  • [ X ]
    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, Sacide
    Introduction: 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.
  • [ X ]
    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, Sacide
    Introduction: 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.
  • [ X ]
    Öğe
    Effect of a functional variant of tumor necrosis factor-? gene in temporomandibular disorders: a pilot study
    (John Wiley and Sons Inc., 2019) Yerliyurt, Kaan; Nursal, Ayşe Feyda; Tekcan, Akın; Karakuş, Nevin; Tümer, Mehmet Kemal; Yiğit, Serbülent
    Background: Temporomandibular disorders (TMD) are a group of conditions that cause chronic orofacial pain. The tumor necrosis factor ? (TNF-?) is a proinflammatory cytokine that is involved in the various aspects of the inflammatory process including organization and maintenance, and in the arrangement of cells at the inflammation site. The purpose of this study was to evaluate the correlation between TNF-? +252A/G (rs909253) variant and susceptibility to TMD in a Turkish cohort. Methods: The study included 104 patients (26 males, 78 females) with TMD and 126 healthy controls (44 males, 82 females). The TNF-? +252A/G variant analysis was based on Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Results: There was no deviation from HWA for TNF-? +252A/G variant in patient and control groups. There was significant difference in genotype and allele frequencies between patient group and control group in terms of TNF-? +252A/G variant, respectively (P = 0.010, 0.015). A significant increase in the TNF-? +252 AG genotype and G allele frequencies were observed in TMD patients compared to healthy controls. The individuals with GG genotype and G allele had an increased risk of developing TMD. A statistically significant association was observed when the patients were compared with the controls according to AA genotype vs AG+GG genotypes (P = 0.002, OR: 2.23, 95% CI:1.31-3.82). TNF-? +252A/G genotype distribution was associated with chewing problems (P = 0.046). Conclusions: In conclusion, our results provided evidence that TNF-? +252A/G variant may contribute to TMD development in a Turkish cohort. Further studies are needed to confirm this observation. © 2018 Wiley Periodicals, Inc.
  • Küçük Resim
    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 Feyda
    Objectives 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.
  • [ X ]
    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, Sacide
    Introduction: 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.
  • [ X ]
    Öğe
    Endotelyal nitrik oksit sentaz (eNOS) ve miyeloperoksidaz (MPO) genlerin mikrotiyadaki rolü
    (2016) Büyükgüral, Berker; Pehlivan, Sacide; Nursal, Ayşe Feyda; Bekerecioğlu, Mehmet
    Amaç: Bu çalışmanın amacı endotelyal nitrik oksit sentaz (eNOS) polimorfizmleriyle miyeloperoksidaz (MPO) genleri ve mikrotiya gelişimi arasındaki ilişkiyi belirlemekti. Yöntem:Çalışmaya akraba olmayan 19 (11 erkek, 8 kadın) mikrotiyalıolgu ve 40 sağlıklı kontrol alındı. Çalışma, ekson 7'nin bir varyantı(G894T), eNOS geninin 4. nitronunda (VNTR) değişken sayıda 27 bpardışık tekrarlar ve MPO geninin promoter bölgesinde (G463A) bir varyant olmak üzere üç fonksiyonel varyant üzerine odaklandı. Polimerazzincir reaksiyonu (PCR) ve/veya PCR-restriksiyon parça uzunluk polimorfizm (RFLP) yöntemi kullanarak bu varyantların genotiplerini çıkardık. Ki-kare testi kullanarak mikrotiya olgularıyla sağlıklı kontroller arasında eNOS ve MPO genlerinde alel ve genotip dağılımını karşılaştırdık. Bulgular:eNOS (G894T) varyantı açısından, mikrotiya olgularıyla sağlıklı kontroller arasında genotip dağılımı açısından önemli bir farklılıkvardı (OR: 1.267, %95 GA: 1.004-1.598; p=0.009). Çalışmamız eNOS(G894T) TT genotipli olgularda mikrotiya riskinin arttığını gösterdi.eNOS (VNTR) varyanının alel sıklıkları mikrotiya olgularıyla sağlıklıkontroller arasında istatistiksel açıdan anlamlı farklılık olduğunu gösterdi(OR: 2.947, %95 GA: 1.188-7.311; p=0.028). Olgularda eNOS (VNTR)B aleli daha yüksek sıklıkta görülmüştür. Ancak genotip dağılımına göreMPO (G463A) varyantı, genotip dağılımı ve alel sıklığı açısından mikrotiya olguları ve sağlıklı kontroller arasında anlamlı bir farklılık yoktu.Sonuç:Bildiğimiz kadarıyla bu çalışma ile mikrotiya olgularındaeNOS (G894T ve VNTR) ve MPO (G463A) varyantları ilk kez incelenmiştir. Verilerimiz eNOS gen varyantları Türk halkındaki mikrotiyanın etyopatogenezinde kritik rol oynayabildiğini göstermektedir.Güncel çalışmanın bulguları genetik yatkınlık ve dışsal etmenlerin etkileşimde olduğu bir multifaktöryel etiyolojili hastalıkta değişik faktörlerin göreceli katkılarını aydınlatmada prospektif uzunlamasına çalışmaların gerekliliğini vurgulamaktadır.
  • Küçük Resim
    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, Nazan
    BACKGROUND: 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.
  • [ X ]
    Öğe
    Genetic Variations of miRNAs and the Risk of Oral Squamous Cell Carcinoma: A Case-control Study
    (2020) Yılmaz, Kübra; Gümüşay, Özge; Nursal, Ayşe Feyda; Karakuş, Nevin; Yiğit, Serbülent
    Aim: In this study, we investigated the association between two miRNA variants and the risk of oral squamous cell carcinoma (OSCC), and explored the interaction between clinical factors in the Turkish population. Methods: In this case control study, a total of 142 subjects were genotyped by polymerase chain reaction-restriction fragment length polymorphism to analyze miR-146aG/C (rs2910164) and miR-149C/T (rs2292832) variants. Associations between OSCC risk and clinicopathological characteristics were analyzed by chi-square test Results: There was a significant difference in genotype and allele frequencies of miR-146aG/C variant between patients and control individuals. miR-146aG/C CC genotype and C allele were higher in the patient group compared to the control group (p=0.000, p=0.0001, respectively). Significant differences were also observed when the patients and the controls were compared according to CC vs GG+GC (p=0.0002) and GG vs GC+CC (p=0.002). In combined analysis, CC-CT combined genotype increased in patient group compared to controls (p=0.002), while GC-CT combined genotype increased in controls compared to patients (p=0.028), Conclusion: Our study provides evidence that miR-146aG/C variant may play an important role in susceptibility to OSCC in the Turkish population.
  • [ X ]
    Öğe
    Il-1? and IL-1Ra variant profiles in Turkish patients with diabetic peripheral neuropathy
    (Bentham Science Publishers B.V., 2019) Nursal, Ayşe Feyda; İnanır, Ahmet; Rüstemoğlu, Aydın; Uzun, Süheyla; Şahin, Kübra; Yiğit, Serbülent
    Background: Diabetic peripheral neuropathy (DPN) is one of the most common complications of Type 2 diabetes mellitus (T2DM). This study was conducted to investigate the possible association between interleukin-1? (IL-1?) rs16944 /IL-1 receptor antagonist (IL-1Ra) VNTR variants and genetic susceptibility to DPN in a Turkish cohort Methods: A total of 200 subjects were enrolled in this study, 98 patients with DPN and 102 cases of age and sex-matched healthy controls. Genotyping was performed for all individuals using PCR-RFLP analysis Results: IL-1? rs16944 CC genotype had a 3.20-fold increased risk for DPN (p=0.0003, OR=3.20, 95% Cl:1.72-5.96). IL-1? rs16944 CT genotype was higher in healthy control than patients (p=0.004). IL-1? rs16944 C allele was higher in the patient group compared to controls while T allele was lower in patients than controls (p=0.003). IL-1Ra VNTR a1/a1 and a2/a2 genotypes were lower in DPN patients while a1/a2 genotype was higher in patients (p=0.045). The patients carrying a1/T haplotype had decreased risk of DPN than control groups (p=0.004). The patients carrying a2/a2 genotype had lower HDL level (p=0.039). The subjects carrying a2/a2 genotype had higher total cholesterol level while the subjects carrying a1/a2 genotype had lower total cholesterol (p=0.026 and p=0.037, respectively). IL-1Ra a1 allele was associated with higher HDL level (p=0.041) Conclusion: Findings of this study indicated that the IL-1? rs16944 and IL-1Ra VNTR variants are probably to be associated with susceptibility DPN risk in a Turkish cohort.
  • [ X ]
    Öğe
    Impact of glucocorticoid receptor gene Bcl-1 variant on temporomandibular disorders
    (Scientific Publishers of India, 2017) Tümer, Mehmet Kemal; Yerliyurt, Kaan; Nursal, Ayşe Feyda; Karakuş, Nevin; Tekcan, Akın; Yiğit, Serbülent
    Objectives: Temporomandibular Disorders (TMD) constitute a heterogeneous group of disorders characterized by alterations in mandibular movement. The aim of this study was to investigate the association between the Bcl1 variant of NR3C1 gene and TMD susceptibility in Turkish population. Method: NR3C1 gene BcI1 variant of 100 TMD patients and 105 healthy controls was genotyped by polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). Results: There was also no significant difference in regard to genotype and allele frequencies between the patients and the controls (OR 0.216 (95% Cl: 0.85-2.04); p=0.216). However, present study found that numeric pain rating scale was higher in patients with CC and CG genotypes. Discussion: Although the NR3C1 Bcl1 variant did not show any difference between the TMD and the control groups, we thought that this variant could be correlated with pain intensity in patients. Further studies with different ethnic subjects are needed to confirm the results. © 2017, Scientific Publishers of India, All rights reserved.
  • [ X ]
    Öğe
    Impact of the Functional VNTR Variants of the Interleukin-1 Receptor Antagonist and Interleukin-4 Genes on Oral Squamous Cell Carcinoma
    (2019) Gümüşay, Özge; Nursal, Ayşe Feyda; Yiğit, Serbülent; Tekcan, Akın
    Introduction: It has been shown that the host immune response and chronic inflammation could play a role as important risk factors for cancer. Oral squamous cell carcinoma (OSCC) is a common cancer worldwide. In this study, we aimed to evaluate the impact of interleukin-1 receptor antagonist (IL-1RA) and IL-4 variable number tandem repeat (VNTR) polymorphisms on OSCC susceptibility in a Turkish population. Methods: Study subjects comprised of 36 OSCC patients and 100 healthy controls. Genotyping of the IL-1RA VNTR (rs2234663) and IL-4 VNTR (rs79071878) polymorphisms were analyzed by polymerase chain reaction. Results: The frequency of IL-1RA VNTR 1/2+2/2 genotypes increased in the patients than healthy controls while IL-1RA VNTR 1/1 genotype was higher in the control group than in the patients (p=0.002). The subjects carrying IL-1RA VNTR 1/2+2/2 genotypes showed a 12.011-fold increased risk of susceptibility to OSCC. IL-1RA VNTR allele 1 was higher in the control group than the patient group while IL-1RA VNTR allele 2 was higher in the patient group than the control group (respectively, p=0.000, p=0.000). The subjects carrying IL-1RA VNTR allele 2 showed a 2.609-fold increased risk of susceptibility to OSCC. The IL-4 VNTR P1/P1 and P1/P2 genotype frequencies were higher in the patient group compared to the control group (p=0.039). IL-4 VNTR P1 allele was higher in the patients compared to the controls (p=0.030). Conclusion: The significant association between the functional VNTR polymorphisms of IL-1RA/IL-4 genes and OSCC suspectibility in a Turkish population confirmed a role of altered inflammatory process in OSCC pathogenesis.