Türk popülasyonunda Polisitemia vera hastalarında CYP 2D6*4 polimorfizmi

Abstract

Amaç: Birçok çalışma, ksenobiyotiklerin biyotransformasyonundan

sorumlu enzimleri kodlayan gen polimorfizmleri ile çeşitli

kanserlere olan duyarlılık arasında bir ilişkili olduğunu göstermiştir.

Bu çalışmada temel amaç, Türk popülasyonunda sitokrom P450

(CYP) 2D6*4 polimorfizmleri ile PV insidansı arasındaki ilişkiyi

saptamaktır.

Gereç ve Yöntem: Bu araştırma makalesinde, CYP 2D6*

4 polimorfizminin analizi için 80 (PV) hastası ve 76 kontrol

örneği kullanılmıştır. Deney, polimerize zincir reaksiyonu (PZR)-

restriksiyon parça uzunluğu polimorfizmi (RFLP) methodu

kullanılarak gerçekleştirilmiştir.

Bulgular: Sonuç olarak, hastalar ve kontroller CYP 2D6*

4 yavaş metabolizör (YM) ve heterozigot hızlı metabolizör

(HM) genotip sıklığına göre karşılaştırıldıklarında, hastalardaki

YM frekansı %1.35, heterozigot HM frekansı %32.43, kontrol

grubunda ise YM frekansı %2.63, heterozigot HM frekansı %21.05

olarak tespit edilmiştir. CYP 2D6 genotiplerinin analiz sonuçları

ile hasta ve kontrollerdeki hastalık riski arasındaki korelasyon

araştırılmıştır. YM, heterozigot HM ve HM genotiplerinin PV riski

ile ilişkili olmadığı bulunmuştur (OR 0.51, 95% CI 0.04-5.71, OR

1.80, 95% CI 0.86-3.75, χ2 1.93, P: 0.164, OR 0.61, 95% CI 0.30-

1.24, χ2 1.40, P: 0.235).

Sonuç: Elde ettiğimiz sonuçlar, çalışılan popülasyonda

CYP 2D6 * 4 polimorfizminin PV etyolojisinde önemli bir rol

oynamadığını göstermiştir.

Keywords

• Sitokrom P450 2D6,Genetik polimorfizm,Polisitemia vera (PV)

CYP 2D6* 4 polymorphism in Polycythemia vera patients in Turkish population

Abstract

Objective: Many studies have shown the association of

susceptibility to several cancers with gene encoding enzymes’

polymorphisms which engage in xenobiotics’ biotransformation.

In this study, the main purpose is to search the relation between

cytochrome P450 (CYP) 2D6* 4 polymorphisms and Polycythemia

vera (PV) incidence in Turkish population.

Materials and Methods: In this research article, 80

Polycthemia vera (PV) cases and 76 control samples have been

used for the analysis of CYP 2D6* 4 polymorphism. The research

has been performed by the methods of polymerase chain reaction

(PCR)-restriction fragment length polymorphism (RFLP).

Results: As a result, when patients and controls were

compared in terms of CYP 2D6* 4 poor metabolizer (PM) and

heterozygous extensive metabolizer (HEM) genotype frequency,

it has been found that the patients have 1.35% PM and 32.43%

HEM frequency, and controls have 2.63% PM and 21.05% HEM

frequency. The correlation between the results of CYP 2D6

genotype analysis and the risk of disease in patients and controls

was examined. We found that PM, HEM and extensive metabolizer

(EM) genotypes were unrelated with the risk of PV (OR 0.51, 95%

CI 0.04-5.71, OR 1.80, 95% CI 0.86-3.75, χ2 1.93, P: 0.164, OR

0.61, 95% CI 0.30-1.24, χ2 1.40, P: 0.235).

Conclusion: Our results suggested that the CYP 2D6*

4 polymorphism, in the studied population, does not play an

important role in PV etiology.

Keywords

• Cytochrome P450 2D6,Genetic polymorphism,Polycythemia vera (PV)

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