Deniz Ergec

Marmara University, İstanbul, Istanbul, Turkey

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Publications (9)5.91 Total impact

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    ABSTRACT: Phenytoin has a widespread use in epilepsy treatment and is mainly metabolized by hepatic cytochrome P450 enzymes (CYP). We have investigated CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*3 allelic variants in a Turkish population of patients on phenytoin therapy. Patients on phenytoin therapy (n = 102) for the prevention of epileptic seizures were included. Polymorphic alleles were analyzed by restriction fragment length polymorphism method. Serum concentrations of phenytoin were measured by fluorescence polarization immune assay method. The most frequent genotype was detected for CYP2C9 wild-type alleles (78.43 %), whereas CYP2C19*2/*2 (5.88 %) was the least frequent genotype group. According to the classification made with both enzyme polymorphisms, CYP2C9*1/*1-CYP2C19*1/*1 (G1: 41.17 %) genotype group was the most frequent whereas CYP2C9*1/*2-CYP2C19*1/*3 (G7: 0.98 %) was the least frequent one. The highest mean phenytoin level (27.95 ± 1.85 µg/ml) was detected in the G8 genotype group (CYP2C9*1/*3-CYP2C19*2/*3) and the G1 genotype group showed the lowest mean phenytoin level (7.43 ± 0.73 µg/ml). The mean serum concentration of phenytoin of the polymorphic patients with epilepsy was higher than that for the wild-type alleles both in the monotherapy and polytherapy patients. These results show the importance of the genetic polymorphism analysis of the main metabolizing enzyme groups of phenytoin for the dose adjustment.
    10/2014;
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    ABSTRACT: Background: In this study, we investigated the effect of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in Turkish patients with a non-syndromic cleft lip with or without palate (NSCL/P). Methods: A total of 88 NSCL/P patients, without any other anomalies and 121 healty controls, who had not any kind of genetic disease, were recruited for this study. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to determine the genotype. Chi-square test was used to compare datas between the patient and control groups. Results: The CC, CT and TT patient genotype frequencies were 47.7, 36.4 and 15.9%, respectively, and 58.6, 33.1 and 8.3%, respectively, for the control group. Although there were no statistically significant differences between the estimated frequencies of patients and controls, the ‘T’ allele distribution was significantly different in the patient group (34.1%) as compared to the control group (24,8%; p=0.038). Conclusions: Our results show that the ‘T’ allele of the MTHFR C677T polymorphism is associated with NSCL/P in the Turkish patients investigated. However, further studies are required, including the genotyping of a larger patient cohort, in order to elucidate the potential pathogenetic mechanisms of the investigated gene region on NSCL/P.
    Sylwan 10/2014; · 0.26 Impact Factor
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    ABSTRACT: Congenital adrenal hyperplasia (CAH) is a group of genetic endocrine disorders, caused by enzyme deficiencies in the conversion of cholesterol to cortisol. More than 90% of the cases have 21-hydroxylase deficiency (21-OHD). The clinical phenotype of the disease is classified as classic, the severe form, and nonclassic, the mild form. In this study, it was planned to characterize the mutations that cause 21-OHD in Turkish CAH patients by direct sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis and to investigate the type of CAH (classic or nonclassic type) that these mutations cause. A total of 124 CAH patients with 21-OHD and 100 healthy volunteers were recruited to the study. Most of the mutations were detected by direct sequencing. Large gene deletions/duplications/conversions were investigated with MLPA analysis. Results were evaluated statistically. At the end of our study, 66 different variations were detected including SNPs and deletions/duplications/conversions. Of these variations, 18 are novel, of which three cause amino acid substitutions. In addition, 15 SNPs which cause amino acid changes were identified among these variations. If similar results are obtained in different populations, these mutations, in particular the novel mutation 711 G>A, may be used as markers for prenatal diagnosis.
    Annals of Human Genetics 09/2014; · 2.22 Impact Factor
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    ABSTRACT: Int J Clin Pediatr. 2014;3(1):12-15 Press Elmer This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited Abstract Background: One of the candidate genes for non-syndromic cleft lip with/without palate (NS-CL/P) is muscle segment homeobox 1 (MSX1) gene. MSX1 codes for a homeodomain protein that function as a transcriptional repressor during craniofacial development. In this study, we investigated the contribution of coding regions and exonic-intronic boundaries of MSX1 in Turkish NS-CL/P patients and the gender distribution of NS-CL/P in examined cohort. Methods: We analyzed a total of 100 NS-CL/P Turkish patients, of whom 61 were boy and, 100 non-affected children of whom 44 were boys. Genotyping procedure was assessed by polymerase chain reaction-sequencing protocol. Fisher Exact Analysis was per-formed to compare the gender difference. Results: We detected no variations in coding regions and intronic-exonic boundaries of MSX1 in both groups. Boys to girls' ratio were difference between groups, boys were more effected than girls (P = 0.023). Conclusions: in Turkish patients with NS-CL/P. We detected no sequence variations in the coding regions, including the exonic-intronic boundaries of MSX1 in our study population. More comprehensive analysis of MSX1 in role for the onset of the anomaly.
    Int J Clin Pediatr. 04/2014; 3(1):12-15.
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    ABSTRACT: Background: In this study, we investigated the effect of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in Turkish patients with a non-syndromic cleft lip with or without palate (NSCL/P). Methods: A total of 88 NSCL/P patients, without any other anomalies and 121 healty controls, who had not any kind of genetic disease, were recruited for this study. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to determine the genotype. Chi-square test was used to compare datas between the patient and control groups. Results: The CC, CT and TT patient genotype frequencies were 47.7, 36.4 and 15.9%, respectively, and 58.6, 33.1 and 8.3%, respectively, for the control group. Although there were no statistically significant differences between the estimated frequencies of patients and controls, the ‘T’ allele distribution was significantly different in the patient group (34.1%) as compared to the control group (24,8%; p=0.038). Conclusions: Our results show that the ‘T’ allele of the MTHFR C677T polymorphism is associated with NSCL/P in the Turkish patients investigated. However, further studies are required, including the genotyping of a larger patient cohort, in order to elucidate the potential pathogenetic mechanisms of the investigated gene region on NSCL/P.
    x; 03/2014
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    ABSTRACT: Coronary artery disease (CAD) is a multifactorial disease influenced by genetic and environmental factors. Major risk factors of CAD are hypertension, hyperlipidemia, smoking, family history and obesity. Also polymorphisms in the angiotensin-I converting enzyme (ACE) gene can associate with CAD. The relationship between ACE polymorphisms and other risk factors is not well understood in CAD, likely due to the complex interrelation of genetic and environmental risk factors. The aim of this study was to investigate the associations of CAD risk factors and ACE polymorphisms in patients with CAD. We enrolled 203 consecutive patients and 140 healthy subjects in the study. The severity of CAD was evaluated according to the number of vessels with significant stenosis. ACE insertion (I)/deletion (D) genotype was determined by PCR. The frequency of the DD genotype was significantly higher in patients. D allele frequency was higher among CAD subjects when compared to the control group. The number of stenotic vessels were found to be statistically associated with a high frequency of DD polymorphism and D allele and a low frequency of I allele in patients, especially in male patients. The control group displayed II and ID genotypes more frequently than did the patients. The ACE I/D genotype was associated with hyperlipidemia and smoking history. We consider that the DD polymorphism and D allele may affect the severity of CAD, while I allele may have a protective effect. In conclusion, the ACE I/D genotype may interact with conventional risk criteria in determining the risk of CAD.
    Genetics and molecular research: GMR 01/2013; 12(4):6895-906. · 0.99 Impact Factor
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    ABSTRACT: Mitochondrial DNA (mtDNA) mutations have been recently described in various tumors; however, data focusing on bladder cancer are scarce. To understand the significance of mtDNA mutations in bladder cancer development, we investigated the mtDNA alterations in bladder cancer cases. We studied the mtDNA in 38 bladder tumors and 21 microdissected normal bladder tissue samples. Mitochondrial genes ATPase6, CytB, ND1, and D310 region were amplified by polymerase chain reaction and then sequenced. We detected 40 mutations in our patient population. Our findings indicate that G8697A, G14905A, C15452A, and A15607G mutations are frequent in bladder cancers (p<0.05). In addition, the incidence of A3480G, T4216C, T14798C, and G9055A mutations were higher in patients with bladder tumors. In conclusion, the high incidence of mtDNA mutations in bladder cancer suggests that mitochondria could play an important role in carcinogenesis and mtDNA could be a valuable marker for early bladder cancer diagnosis.
    Genetic Testing and Molecular Biomarkers 04/2012; 16(7):672-8. · 1.44 Impact Factor
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    ABSTRACT: Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial DNA (mtDNA) rearrangements. To investigate the etiology of decreased sperm fertility and motility of sperm and to develop an appropriate therapeutic strategy, the molecular basis of these defects must be elucidated. In this study, we aimed to reveal the relationships between the genetic factors including sperm mtDNA mutations, Y chromosome microdeletions, and sperm parameters that can be regarded as candidate factors for male infertility. Thirty men with a history of infertility and 30 fertile men were recruited to the study. Y chromosome microdeletions were analyzed by multiplex PCR. Mitochondrial genes ATPase6, Cytb, and ND1, were amplified by PCR and then analyzed by direct sequencing. No Y chromosome microdeletions were detected in either group. However, a total of 38 different nucleotide substitutions were identified in the examined mitochondrial genes in both groups, all of which are statistically non-significant. Fifteen substitutions caused an amino acid change and 12 were considered novel mutations. As a conclusion, mtDNA mutations and Y chromosome microdeletions in male infertility should be examined in larger numbers in order to clarify the effect of genetic factors.
    Genetics and molecular research: GMR 01/2012; 11(2):1039-48. · 0.99 Impact Factor
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    ABSTRACT: ZET İzole dudak-damak yarıklı Türk çocuk hastaların bölgesel dağılımı ve olası bölgesel etkiler Amaç: İzole dudak-damak yarıkları multifaktöriyel anomaliler ara-sında yer almaktadır. Bu retrospektif-tanımlayıcı çalışmada izole dudak-damak yarıklı Türk çocuk hastaların Türkiye'deki bölgesel dağılımlarını inceleyerek bölgesel ve yaşam tarzlarının, anomalinin oluşmasındaki olası etkilerini saptamayı amaçladık. Yöntem: Temmuz 2006-Haziran 2010 yılları arasında doğum yapan yarık dudak-damaklı çocukların annelerinden; kökenleri, vitamin alımı dahil beslenme alışkanlıkları, iş ve yaşam biçimleri hakkında bilgi toplanmıştır. Bulgular: Bölgesel olarak incelendiğinde Türkiye'nin doğu bölge-lerinde izole dudak-damak yarık vakalarının diğer bölgelere göre daha yüksek sayıda olduğu tespit edilmiştir. Etkilenen erkek çocuk-ların kız çocuklara oranının 154/136 olduğu saptanmıştır. Annelerin doğum anlarındaki ortalama yaşının ise 24,7 olduğu belirlenmiştir. Çalışmamıza katılan anneler hayatları boyunca alkol veya sigara kullanmamıştır. Sonuç: Beslenme alışkanlıkları ve yaşam standartları bölgesel olarak değişmektedir ve bu değişimlerin izole dudak-damak yarık oluşumu üzerine etkileri vardır. Ancak sorumlu farklılıkların saptanabilmesi için daha detaylı çalışmalara ihtiyaç duyulmaktadır. Anahtar sözcükler: Dudak-damak yarıkları, beslenme alışkanlıkları, yaşam şekli, bölgesel dağılım ABS TRACT Regional dispersion of non-syndromic cleft lip with/without palate Turkish children patients and possible geographical effects Objective: Non-syndromic cleft lip with/without palate (NSCL/P) takes part in multifactorial anomalies. In the present retrospective-descriptive study, we aimed to evaluate the distribution of Turkish children patients with non-syndromic cleft lip with/ without palate according to the geographic regions and analyse the possible geographic and environmental effects which can be considered in the aetiology of the anomaly. Method: Information about the origin, nutritional habits including vitamin intake, occupational and lifetime status were obtained from mothers of NSCL/P patients who gave birth between July 2006 and June 2010. Results: When regional status was investigated, it was found that the eastern parts of Turkey have a relatively higher number of NSCL/P patients than other regions. The ratio of the affected boys to affected girls was found as 154/136. Also, the average age of the mothers at the time of delivery was found to be 24.7. None of the mothers used alcohol or smoked during their lives. Conclusions: Regional differences in nutritional habits and life style have various effects on NSCL/P occurrence, nevertheless more detailed studies are needed to specify the major differences that are responsible.
    MUSBED. 01/2012; 2(4):164- 168.