Allele and genotype frequencies of CYP2B6 gene *5 polymorphism in a Turkish population

2016 ◽  
Vol 258 ◽  
pp. S78-S79
Author(s):  
S. Süzen ◽  
N.Y. Artun
2019 ◽  
Vol 70 (2) ◽  
pp. 97-103 ◽  
Author(s):  
Hülya Türkan ◽  
Bensu Karahalil ◽  
Ela Kadıoğlu ◽  
Kenan Eren ◽  
Defne Tamar Gürol ◽  
...  

AbstractSusceptibility to addiction has a complex genetic basis that includes genes associated with the action and metabolism of drugs of abuse. One important gene in that respect is OPRM1, which codes for the μ-opioid receptor and has an important role in mediating the rewarding effects of addiction substances. The aim of our study was to assess the prevalence of the OPRM1 A118G polymorphism (rs1799971) in Turkish population and to investigate its association with opioid and other substance addiction. In addition, we examined the association of rs1799971 in addicted patients who were also diagnosed with psychiatric disorders. The study included 103 patients addicted to opioids, cocaine, ecstasy, alcohol, lysergic acid diethylamide (LSD), cannabis, and sedative/hypnotic substances and 83 healthy volunteers with similar demographic features as controls. rs1799971 polymorphisms were identified with the polymerase chain reaction restriction fragment length polymorphism method (PCR-RFLP). The genotype frequencies were significantly higher in the addicted patients than controls (32.0 % vs 16.9 %, respectively; p=0.027). The prevalence of the G allele was 16.1 % in the addicted group and 8.4 % in the control group (p=0.031). Our study confirmed the association between the rs1799971(G) allele frequency and opioid and other substance addiction, but not with psychiatric disorders.


2007 ◽  
Vol 26 (1) ◽  
pp. 41-46 ◽  
Author(s):  
Ahmet O. Ada ◽  
H. Sinan Suzen ◽  
Mumtaz Iscan

Polymorphic genes encoding drug-metabolizing enzymes may account for interindividual differences in certain types of diseases especially cancer. In this study, microsomal epoxide hydrolase (EPHX1) and glutathione S-transferase P1 (GSTP1) gene polymorphisms were determined among 133 healthy males of a Turkish population. Frequencies of EPHX1 and GSTP1 gene polymorphisms were determined by using the polymerase chain reaction–restriction fragment length polymorphism (PCR/RFLP) method. The observed genotype frequencies of EPHX1 exon 3 were Tyr113Tyr:50.4%, Tyr113His: 42.1%, His113His: 7.5% and EPHX1 exon 4 were His139His: 69.2%, His139Arg: 28.6%, Arg133Arg: 2.2%. GSTP1 exon 5 genotype frequencies were Ile105Ile: 58.7%, Ile105Val: 35.3%, Val105Val: 6.0% and GSTP1 exon 6 genotype frequencies were Ala114Ala: 85.0%, Ala114Val: 14.3%, Val114Val: 0.7%. These results reveal that the frequencies of EPHX1 and GSTP1gene polymorphisms in a small sampling of males within a Turkish population are similar to European Caucasian populations.


2014 ◽  
Vol 41 (6) ◽  
pp. 3891-3896 ◽  
Author(s):  
Nazan Yuce-Artun ◽  
Gulcin Kose ◽  
H. Sinan Suzen

2015 ◽  
Vol 40 (3) ◽  
Author(s):  
Ceren Acar ◽  
Mustafa Mert Sözen ◽  
Harika Gözükara ◽  
Kübra Orman ◽  
Şükrü Kartalcı

AbstractObjective: Catechol-O-methyltransferase (COMT) is the key molecule in the catabolism of catecholamines like dopamine which is an important molecule in schizophrenia. Due to its function and location COMT gene is a strong candidate gene for schizophrenia. The aim of this study was to investigate the possible associations of 3 COMT single nucleotide polymorphisms (SNPs) and schizophrenia in our population. COMT enzyme activity is regulated by a widely known Val158Met polymorphism (rs4680), along with the variation of the SNPs rs737865 and rs165599.Methods: Val158Met polymorphism (rs4680), the SNPs rs737865 and rs165599 were the targets of this study. The study was performed with 96 patients (66 male and 30 female) and 100 controls (47 male and 53 female) from Malatya region on eastern part of Turkey by using TaqMan genotyping assays.Results: We couldn’t find a significant difference between the schizophrenia patients and normal controls for any of the SNPs that were studied. The genotype frequencies in both the patient and control groups satisfied the Hardy- Weinberg equilibrium. No significant gender differences were observed for the SNPs that were investigated. No significant difference was observed in the allele or genotype frequencies as well.Conclusion: COMT gene doesn’t appear to be a risk factor in this population of schizophrenia patients in Turkey.


2013 ◽  
Vol 35 ◽  
pp. 673-677 ◽  
Author(s):  
Server Şahın ◽  
Aydın Rüstemoğlu ◽  
Akın Tekcan ◽  
Türker Taşliyurt ◽  
Hasan Güven ◽  
...  

Objective.Obesity is a complex heterogeneous disease that is caused by genes, environmental factors, and the interaction between the two. The leptin (LEP) and leptin receptor (LEPR) genes have been evaluated for polymorphisms that could potentially be related to the pathophysiology of obesity and its complications. The aim of this study was to investigate the role ofLEPG2548A andLEPR668A/G polymorphisms in the pathogenesis of obesity.Subjects.The study included 127 patients with obesity and 105 healthy controls. Polymerase chain reaction and restriction fragment length analysis forLEPG2548A andLEPR668A/G polymorphisms were applied.Results.There was no statistically significant difference in the genotype frequencies of theLEPgene polymorphism between patients and control groups (P>0.05). We found a difference in theLEPRgenotypes between patients and controls, but this was not statistically significant (P=0.05). Additionally, we found an increased risk of obesity in theLEP/LEPRGG/GG combined genotype (P<0.05).Conclusion.Our findings indicate that theLEPG2548A polymorphism is not a relevant obesity marker and that theLEPR668A/G polymorphism may be related to obesity in a Turkish population. Further researches with larger patient population are necessary to ascertain the implications ofLEPandLEPRpolymorphisms in obesity.


2020 ◽  
Vol 4 (4) ◽  
pp. 255-262
Author(s):  
Meliha Merve HIZ ÇİÇEKLİYURT ◽  
Sevilay OĞUZ KILIÇ ◽  
Levent ELMAS

Obesity is a disease that is affected by environmental conditions as well as genetic predisposition. This is a case-control study that aimed to investigate the relationship between FTO rs9939609 polymorphism and obesity. The relation between the rs9939609 polymorphism and obesity in 80 ower-weight (BMI≥30) and 131 under/normal weight (BMI<30) subjects was examined. The allele and genotype frequencies of each group were determined by the allele counting method. The relationship between single nucleotide exchange and obesity risk was calculated using the odds ratio. Statistical analyzes were performed with SPSS 18.0. Results: The frequency of T allele was 0.58 and 0.45 respectively in the healthy and overweight group when allele frequencies of both groups were compared. The change in allele frequency increased the obesity rate by 1.8 fold. The rs99399609 polymorphism increases obesity risk by2.7 fold in the homozygotes model. Conclusions: In this research, we found statistically significant results in allele frequency difference and allele positivity. The relationship between rs9939609 polymorphism and obesity will be highlighted by larger population studies.


2019 ◽  
Vol 20 (10) ◽  
pp. 845-851
Author(s):  
Fezile Ozdemir ◽  
Merve Demirbugen Oz ◽  
Hilat S. Suzen

Background: The Cytochrome P450 (CYP) enzymes are involved in the metabolism of many endogenous and exogenous substances. They need electrons for their activity. CYP mediated oxidation reactions require cytochrome oxidoreductase (POR) as an electron donor. A common genetic variation identified in the coding region of POR gene (POR*28) leads to an alteration in POR activity by causing amino acid change. The current study aimed to determine the allele and genotype frequencies of POR*28 in a healthy Turkish population by using a novel genotyping assay. Methods: A novel PCR-RFLP assay was developed for the detection of POR*28 (rs1057868) polymorphism and the obtained frequencies were compared with the data established in various ethnic groups. Results: Genotypic analysis revealed that of 209 healthy, unrelated individuals tested for POR*28 polymorphism, 55.5% of the studied subjects were homozygous for the CC genotype, 34.9% were heterozygous for the CT genotype and 9.6% were homozygous for the TT genotype. The allele frequencies were 0.73 (C) and 0.27 (T). The present results were in accordance with the Hardy- Weinberg equilibrium. The distribution of POR*28 allele varies between populations. The frequency of the T allele among members of the Turkish population was similar to frequencies in Caucasian populations but was lower than in Japanese and Chinese populations. Conclusions: In this study, a novel method was developed, which could be applied easily in every laboratory for the genotyping of POR *28 polymorphism. The developed genotyping method and documented allele frequencies may have potential in understanding and predicting the variations in drug response/adverse reactions in pharmacotherapy and susceptibility to diseases in POR-mediated metabolism reactions.


1997 ◽  
Vol 77 (06) ◽  
pp. 1179-1181 ◽  
Author(s):  
Stefan-Martin Herrmann ◽  
Odette Poirier ◽  
Pedro Marques-Vidal ◽  
Alun Evans ◽  
Dominique Arveiler ◽  
...  

SummaryThe GPIIb/IIIa receptor complex may contribute to acute coronary syndromes by mediating platelet aggregation. The Leu33/Pro polymorphism (PlAl/PlA2) of the GPIIIa has recently been shown to be associated with CHD in a small case-control study. We have investigated this polymorphism in a large multicenter study of patients with myocardial infarction and controls and found no difference in the distribution of allele and genotype frequencies between cases and controls.


2020 ◽  
Vol 99 (5) ◽  
pp. 478-482
Author(s):  
N. P. Setko ◽  
A. G. Setko ◽  
Ekaterina V. Bulycheva ◽  
A. V. Tyurin ◽  
E. Yu. Kalinina

Introduction. Changes in the body of children and adolescents aimed at adapting to environmental factors are determined by genetic polymorphism in xenobiotic biotransformation genes, determining the degree of susceptibility of the child’s body to pollutants, which is the basis of modern personalized preventive medicine when managing risks to the health of the child population under the influence of environmental factors. Material and methods. Trace elements, including heavy metals, lead and cadmium, were determined in the hair of 256 practically healthy teenagers by atomic absorption spectrophotometry. Depending on the level of content of the latter, two groups of adolescents were formed to determine six genes of the cytochrome P-450 family. Group 1 consisted of adolescents whose cadmium lead content exceeded the average Russian indices. The second group included adolescents whose heavy metals were above the level of average Russian standards. Results. Studies have shown that in adolescents of the 1st group, compared with the data of adolescents of the 2nd group, an increase in the number of carriers of two mutant alleles at the locus rs 1048943 (gene CYP1A1) is 3.08 times, rs 464621 (gene CYP1A1) is 1. 8 times; locus rs 2069522 (CYP1A2 gene) 3.63 times; locus rs 1799853 (CYP2C9 * 2 gene) 4.5 times; locus rs 1057910 (gene CYP2C9 * 3) 3.8 times and locus rs 2279343 (gene CYP2B6) 4.25 times. Moreover, carriers of two normal alleles in adolescents of the first group at the locus rs 1048943 (gene CYP1A1) were 5.14 times; locus rs 2279343 (CYP2B6 gene) was 6.5 fold less than among adolescents of the 2nd group; and at the locus rs 464621 (gene CYP1A1), rs 2069522 (gene CYP1A2), rs 1799853 (gene CYP2C9 * 2), rs 1057910 (gene CYP2C9 * 3) there were no carriers of normal homozygotes. Conclusion. Group 1 adolescents with heavy metal contamination of the body are carriers significantly in a greater number of pathological mutations in the genes of the cytochrome P-450 detoxification system in comparison with data from group 2 adolescents.


2017 ◽  
Vol 4 (1) ◽  
pp. 82-109 ◽  
Author(s):  
Mustafa Yakar ◽  
Fatma Sert Eteman

Türkiye'de 20.yy'ın ortasından itibaren başlayan iç göçler zamanla kurulan göçmen ağları ile süreklilik kazanmış ve ülke içinde nüfusun kır-kent dağılımını değiştirecek boyutlara erişmiştir. Araştırma, göçün doğum yeri verisinden hareketle ikamet edilen yerdeki nüfus miktarına göre alınan ve verilen göç akışının büyüklüğünü iller ölçeğinde yönlü ağlar kullanılarak analiz edilmesini amaçlamaktadır. Araştırmada, TÜİK tarafından yayınlanmış olan 2015 yılına ait, iller ölçeğinde doğum yerine göre ikamet yeri verisi kullanılmıştır. Göçün kaynak ve hedef sahaları arasındaki akışını incelemek için NodeXL ile oluşturulan tek modlu, yönlü ve ağırlıklandırılmış göç ağının istatistiksel olarak tam ağ yapısına sahip olduğu görülmüştür. Ağ grafiklerinden ve istatistiklerinden göç hareketinin doğudan batıya doğru gerçekleştiği ve İstanbul’ un ülkenin tamamına hâkim bir görünüme sahip olduğu anlaşılmaktadır. Türkiye nüfusunun cumhuriyet tarihi içinde geçirdiği iç göç süreçleriyle birlikte ülke içinde kurulmuş ve oldukça karmaşık bir görünüme sahip ağ yapısının olduğu ileri sürülebilir. Kurulan ağlar göçlerin devamını sağladığı gibi, göçün yöneldiği merkezlerde daha heterojen nüfus yapılarının ortaya çıkmasına yol açmıştır.ABSTRACT IN ENGLISHSocial Network Analysis of Migration Inter Provinces In Turkey with Nodexl The internal migrations which started in Turkey in the middle of the 20th century have gained permanency with the migration networks that were established at the time and reached dimensions which have the potential to change the rural-urban distribution of the population within the country.  The study aims to analyze the magnitude of the incoming and outgoing migration flow at the provincial scale based on the population data for place of birth according to place of residence by using directional networks. Place of residence according to place of birth at the provincial scale data for 2015 published by TÜİK was used in the study. A single mode, directional and weighted migration network created with NodeXL to examine the migration flows between the source and target has a statistically complete network structure. The network graphs and statistics show that the migrations have taken place from east to west and Istanbul has a view as dominant of the country. It can be argued that internal network structure of Turkish population has  a very complex view because of internal migration in the history of the republic. The established networks have enabled the continuation of migration and have manifested as the emergence of more heterogeneous population structures in centers where migration had been directed.


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