scholarly journals A Novel Genotyping Method for Detection of Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population

2019 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Fezile Özdemir ◽  
Yağmur Kır ◽  
Kenan Can Tok ◽  
Bora Baskak ◽  
Halit Sinan Suzen
Keyword(s):  
Muscarinic Receptor ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Genotyping Method ◽  
Muscarinic Receptor M1

Distribution of drug-metabolizing enzymes coding genes CYP2D6, CYP3A4, CYP3A5 alleles in a group of healthy Turkish population

2018 ◽  
Vol 44 (2) ◽  
pp. 142-146
Author(s):  
İsmail Ün ◽  
İ. Ömer Barlas ◽  
Nisa Uyar ◽  
Bahar Taşdelen ◽  
Naci Tiftik
Keyword(s):  
Drug Therapy ◽  
Adverse Drug Reactions ◽  
Low Frequency ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Drug Reactions ◽  
Metabolizing Enzymes ◽  
Frequency Distributions ◽  
Allelic Frequencies ◽  
Hardy Weinberg Equilibrium

Abstract Objective: Variant alleles in specific ethnic groups are important for personalized drug therapy regimens and adverse drug reactions. Therefore, the aim of this study was to investigate allelic frequencies of the CYP2D6*1, CYP3A4*5, CYP3A4*18, CYP3A5*2 and CYP3A5*4 in a group of Turkish population. Materials and methods: Three hundred and six unrelated healthy subjects who were accepted as blood donors to the Mersin University Blood Bank were included in the study after informed consent. Allelic frequencies of the CYP2D6*1 (rs3892097), CYP3A4*5 (rs55901263), CYP3A4*18 (rs28371759), CYP3A5*2 (rs28365083) and CYP3A5*4 (rs56411402) were determined by using polymerase chain reaction-restriction fragment length polymorphism assays. Results: CYP2D6 allele frequencies in detected group was 100% for CYP2D6*1 (WT/WT). CYP3A4 allele frequencies of subjects were 100% for CYP3A4*5 (C/C) and CYP3A4*18 (T/T). CYP3A5 allele were in Hardy-Weinberg equilibrium for CYP3A5*2 (p=0.142) and frequencies for C and A allele were 91% and 9% respectively. CYP3A5 allele frequencies of subjects was 100% for CYP3A5*4 (WT/WT). Conclusion: Screening of low frequency alleles by pharmacogenetic testing must not be omitted to optimize pharmacotherapy and avoid severe drug toxicities. Frequency distributions of the identified polymorphisms in the present study may contribute to the personalized drug therapy regimens and prediction of possible adverse drug reactions in the Turkish population.

NF1 gene variant allele frequencies comparison of Turkish population with databases

2017 ◽  
Vol 256 ◽  
pp. S80
Author(s):  
Ruslan Bayramov ◽  
Muhammet Ensar Dogan ◽  
Meltem Cerrah Gunes ◽  
Muge Gulcihan Unal ◽  
Mehmet Boz ◽  
...  
Keyword(s):  
Turkish Population ◽  
Allele Frequencies ◽  
Variant Allele ◽  
Gene Variant ◽  
Nf1 Gene

Association Between Thr21Met and Ser89Asn Polymorphisms of the Urotensin II Gene and Systemic Sclerosis

2011 ◽  
Vol 39 (1) ◽  
pp. 106-111 ◽  
Author(s):  
YAVUZ PEHLIVAN ◽  
BULENT GOGEBAKAN ◽  
SERDAR OZTUZCU ◽  
METIN OZGEN ◽  
GÖZDE YILDIRIM CETIN ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Gene Polymorphisms ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Lung Involvement ◽  
Urotensin Ii ◽  
Finger Flexion ◽  
Fibrotic Disorder ◽  
Genotype And Allele Frequencies

Objective.Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-II) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population.Methods.A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and Ser89Asn in patients with SSc and in controls.Results.We found that the Thr21Met polymorphism of the UTS2 gene was markedly associated with the risk of developing SSc (p < 0.0001), but there was no relationship between the Ser89Asn polymorphism and SSc (p > 0.05). Two haplotypes (MS and TS) were markedly associated with SSc (p < 0.05). There were significant associations between the genotype and allele frequencies of UTS2 gene Thr21Met polymorphism and cases with diffuse or limited SSc, systemic or lung involvement, finger flexion deformity, pitting scars at the fingertips, positive anticentromere, or positive antitopoisomerase 1 antibody groups.Conclusion.Our study shows the association between Thr21Met, but not Ser89Asn, in the UTS2 gene and SSc. The results strongly suggest that this single-nucleotide polymorphism may be an important risk factor in the development of SSc, and a powerful indicator of severe skin and lung involvement in patients with SSc.

scholarly journals Genotype and allele frequencies of SLCO1B1 g.89595 T C polymorphism in a healthy Turkish population

2019 ◽  
Vol 23 (6) ◽  
pp. 1149-1156
Author(s):  
Zuhal UÇKUN ŞAHİNOĞULLARI ◽  
Necmiye CANACANKATAN ◽  
Mehmet CANACANKATAN
Keyword(s):  
Turkish Population ◽  
Allele Frequencies ◽  
Genotype And Allele Frequencies

AB0 Blood Subgroup Allele Frequencies in the Turkish Population

2003 ◽  
Vol 61 (3) ◽  
pp. 257-260 ◽  
Author(s):  
Fahri Akbas ◽  
Müge Aydin ◽  
Asim Cenani
Keyword(s):  
Turkish Population ◽  
Allele Frequencies

Allele Frequencies for Three STR Loci in Turkish Population of Kosovo

2002 ◽  
Vol 47 (4) ◽  
pp. 15473J
Author(s):  
A. B. çerkezi ◽  
D. H. Altunçul ◽  
H. Yükseloglu ◽  
E. Abaci-Kalfoglu ◽  
S. Atasoy
Keyword(s):  
Turkish Population ◽  
Allele Frequencies ◽  
Str Loci

Analysis of paraoxonase-1 (PON1) gene polymorphisms in vitiligo / Vitiligo’da paroksinaz-1 (PON1) gen polimorfizminin araştırılması

2015 ◽  
Vol 40 (5) ◽  
Author(s):  
Havva Yıldız Seçkin ◽  
Göknur Kalkan ◽  
İsmail Benli ◽  
İlknur Bütün ◽  
Yalçın Baş ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Statistical Difference ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Paraoxonase 1 ◽  
Control Group ◽  
Healthy Controls ◽  
Loss Of Function ◽  
Pon1 Gene ◽  
Homozygous Genotype

AbstractObjective: Vitiligo is a chronic autoimmune depigmentation disease, which is characterized by loss of function of the melanocytes in epidermis. Recent studies suggest that oxidant/antioxidant status plays important role in the pathogenesis of vitiligo. We aimed to investigate possible associations between vitiligo and PON1 M / L55 and PON Q192R gene polymorphisms in the Turkish community.Methods: The 57 patients with vitiligo and 69 healthy controls were enrolled into the study. Genotyping was performed to identify PON1 M / L55 and PON Q192R gene polymorphism. Genotype and allele frequencies were compared between patients with vitiligo and healthy control group.Results: In patients (p=0.0061) and healthy controls (p=0.550), there was no significant statistical difference between L55M and Q192R polymorphisms of the PON1 gene. However, when L55M polymorphism was compared to MM homozygous genotype and LL+LM genotypes, it was notably higher in controls than in patients, which seems to be protective against the disease (p=0.034, OR:0. 3, 95% CU: 0.08-0.93). Although, there was no not a statistical difference in allele frequencies of Q192R polymorphism between patients and controls (p=0.242), the M allele of L55M polymorphism was significantly higher in controls than in patients with vitiligo, which means that it might be protective against vitiligo (p=0.009, OR: 0.48, 95% CI: 0.27-0.84).Conclusion: Even though there were no differences between patients and controls, this is the first study that investigated the possible associations between the PON1 M/L55 and PON Q192R gene polymorphisms within the Turkish population.

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