Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey

Şahín, Şükran; Aydoğan, Leyla; Benli, İsmail; Özyurt, Hüseyın

doi:10.4238/2011.december.2.3

Cited by 7 publications

(8 citation statements)

References 30 publications

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“…In the AS group, our findings in the present study corroborate other studies, which point to a strong association between HLA-B27 and AS [2,8,23,24]. The distribution of HLA-B27 in our sample of AS patients from Vojvodina is similar from that found in populations of Tunisia, (62.0%), Italy (76.0–68.0%) and Turkey (70.0%) [2,21]. In contrast, the HLA-B27 frequency in AS patients from Vojvodina was lower than that reported from different European countries: Spain-Galicia (94.3%), United Kingdom (90.2–94.0%), Norway (north) (93.0%), Finland (93.0%), Hungary (92.7%), Bulgaria (88.0%), Spain (84.4%), Germany (82.0%) and Romania (72.1%) [2].…”

Section: Discussionsupporting

confidence: 90%

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Human Leukocyte Antigen-B27 and Disease Susceptibility in Vojvodina, Serbia

Vojvodic

Ademović-Sazdanić²,

Busarcevic³

2012

Balkan Journal of Medical Genetics

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There are numerous studies showing the role of human leukocyte antigens (HLAs) related with susceptibility or resistance to certain diseases. The aim of this study was to determine the association of HLA-B27 with ankylosing spondylitis (AS), polyarthralgia, lumboishialgia, acute anterior uveitis (AAU), psoriatic arthritis (PA), synovitis coxae and rheumatoid arthritis (RA) in patients from Vojvodina, Serbia. An HLA I class typing was performed by the serological immunomagnetic two-color fluorescence method using peripheral blood T lymphocytes in 97 patients and 224 healthy controls from the population of Vojvodina, Serbia. We calculated HLA-B27 frequencies, relative risk (RR), ethiologic fraction (EF), e.g., population attributive risk, when RR was greater than 1, while, preventive fraction (PF) was calculated when RR was lower than 1. This study revealed the strongest association of AS with HLAB27 antigen: RR = 25.0, while the EF was greater than 0.15, respectively. The χ2 test showed the significant difference (p <0.05) in HLA-B27 in patients with AS in comparison to controls (χ2 = 52.5). It was concluded that there is a positive association of HLA-B27 with AS and that HLA-B27 can serve as a marker for predisposition to diseases.

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Section: Discussionsupporting

confidence: 90%

“…The concordance in identical twins is approximately 65.0%. It is currently believed that susceptibility to AS is determined almost entirely by genetic factors, with HLA-B27 comprising about one-third of the genetic component [3,21,22]. …”

Section: Discussionmentioning

confidence: 99%

Human Leukocyte Antigen-B27 and Disease Susceptibility in Vojvodina, Serbia

Vojvodic

Ademović-Sazdanić²,

Busarcevic³

2012

Balkan Journal of Medical Genetics

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“…Within the entire of control group, CYP2D6*4 allele frequency was measured as 0.13 (13.16%). As we compared our results with the study of Aynacıoğlu et al [21], Aydın et al [19], Sahin et al [22], we determined that the frequencies of allele and homozygous mutations were nearly close.…”

Section: Resultsmentioning

confidence: 75%

Determination of CYP2D63 and 4 allele frequency among Turkish population

Okat¹

2018

Journal of Surgery and Medicine

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Aim: CYP2D6 takes part in the family of cytochrome P450 enzymes, which is account for the detoxification of multifarious xenobiotics and various drug commonly used in medicine. CYP2D6 is a polymorphic gene encompassing more than 80 known polymorphism within the coding and promoter regions. The mutant CYP2D6*3 allele revealed with the deletion of A2637 found in exon 5 region. The other common mutant allele is CYP2D6*4 and this allele stem from a splice site defect of G1934A can be classified as the most typical mutations. The present study primarily aims to determine the CYP2D6*3 and *4 frequency defects among Turkish population. Methods: Within the framework of the study, two critical alleles of CYP2D6 wild type allele, and CYP2D6*3-CYP2D6*4 mutated alleles are genotyped on eighty healthy volunteers, who are unrelated, by the method of polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). Results: CYP2D6*4 allele frequency, which was identified as the loss of BstNI site, was determined as 13.16% on the examined reference group. Besides, the CYP2D6*4/CYP2D6*4 genotype ratio for the searched reference group was observed in only 2.63%. The heterozygous CYP2D6*3 allele frequency was determined as 1.32% on the examined reference group. Finally, CYP2D6*3/CYP2D6*3 genotype was not encountered in that searched reference group. Conclusion: In the light of those findings, it can be clearly stated that the prevalence of CYP2D6*3 and *4 allelic variants in the Turkish population is the same with the other demographic groups in Turkey.

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“…Carriers of PT 20210A have higher plasma prothrombin concentrations than control subjects with the normal 20210GG polymorphism and have increased risk of venous thrombosis [7]. FVL, PT G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T are commonly used as molecular biomarkers to evaluate the predisposition of DVT [8]. These hereditary thrombophilic risk factors affect the natural anticoagulant mechanisms and activate the coagulation mechanisms because of an imbalance between procoagulant and anticoagulant factors [3].…”

Section: Introductionmentioning

confidence: 99%

The incidence of FVL and PT G20210A mutations in patients with idiopathic deep venous thrombosis

Ekim¹,

Ekim²

2018

J Phlebol Lympho

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Background: Factor V Leiden (FVL), prothrombin gene (PT G20210A), and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are known as molecular biomarkers to evaluate the predisposition of deep venous thrombosis (DVT). These hereditary risk factors affect the natural anticoagulant mechanisms and activate the coagulation mechanisms because of an imbalance between procoagulant and anticoagulant factors. Our study aimed to determine the prevalence of these mutations in Turkish patients presenting with idiopathic DVT. Methods: A total of 135 patients with idiopathic DVT admitted to our clinic were investigated for FVL, PT G20210A, and MTHFR (C677T, A1298C) gene mutations. Screening of polymorphisms was carried out by using SNaPshot ® multiplex system (Applied Biosystems Inc.). Wild, heterozygous and homozygous genotypic distributions of these mutations were defined as number and percentage frequency. Results: There were 74 male and 61 female patients ranging in age from 18 to 85 years. FVL mutation was found in 66 (41.47%) patients (12 homozygotes 8.88%, 44 heterozygotes 32.59%), PT G20210A was found in 14 (10.36%) patients (1 homozygous 0.74%, 13 heterozygotes 9.62%). MTHFR C677T was found in 53 (39.25%) patients (10 homozygotes 7.40%, 43 heterozygotes 31.85%), and MTHFR A1298C was found in 84 (62.22%) patients (16 homozygotes 11.85%, 68 heterozygotes 50.37%).

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Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey

Cited by 7 publications

References 30 publications

Human Leukocyte Antigen-B27 and Disease Susceptibility in Vojvodina, Serbia

Human Leukocyte Antigen-B27 and Disease Susceptibility in Vojvodina, Serbia

Determination of CYP2D63 and 4 allele frequency among Turkish population

The incidence of FVL and PT G20210A mutations in patients with idiopathic deep venous thrombosis

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Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey

Cited by 7 publications

References 30 publications

Human Leukocyte Antigen-B27 and Disease Susceptibility in Vojvodina, Serbia

Human Leukocyte Antigen-B27 and Disease Susceptibility in Vojvodina, Serbia

Determination of CYP2D6*3 and *4 allele frequency among Turkish population

The incidence of FVL and PT G20210A mutations in patients with idiopathic deep venous thrombosis

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Determination of CYP2D63 and 4 allele frequency among Turkish population