ISSN 2149-2263 | E-ISSN 2149-2271
The Anatolian Journal of Cardiology
The role of endothelial nitric oxide synthase gene G894T and intron 4 VNTR polymorphisms in hemodialysis patients with vascular access thrombosis [Anatol J Cardiol]
Anatol J Cardiol. 2014; 14(3): 239-243 | DOI: 10.5152/akd.2013.4779

The role of endothelial nitric oxide synthase gene G894T and intron 4 VNTR polymorphisms in hemodialysis patients with vascular access thrombosis

Elif Funda Şener1, Ömer Naci Emiroğulları2, Faruk Serhatlıoğlu2, Yusuf Özkul4
1Departments of Medical Genetic aculty of Medicine, Erciyes University, Kayseri-Turkey
2Department of Cardiovascular Surgery, Faculty of Medicine, Erciyes University, Kayseri-Turkey
3Department of Cardiovascular Surgery, Faculty of Medicine, Erciyes University, Kayseri-Turkey
4Department of Medical Genetic, Faculty of Medicine, Erciyes University, Kayseri-Turkey

Objective: Endothelial nitric oxide synthase (eNOS) gene is a candidate gene in cardiovascular and renal diseases. Several polymorphic variations have been identified in eNOS gene. We investigated a potential role of arteriovenous fistula (AVF) thrombosis and intron 4 and G894T polymorphisms in chronic renal failure. Methods: We performed a case-control observational study involving 79 with/without AVF thrombosis in chronic renal failure patients. All subjects were genotyped by the polymerase chain reaction (PCR) and PCR-Restriction Fragment Length Polymorphism (RFLP). Genotype distribution and allele frequencies were compared between groups using the chi-square test. Results: Genotype frequencies in patients with thrombosis were not significantly different from those of patients without thrombosis for eNOS G894T polymorphism (p=0.1). eNOS gene intron 4 a allele distributions seems to be associated with thrombosis in the groups. Conclusion: This study revealed that there was an association between eNOS intron 4 polymorphism and thrombosis in chronic renal failure patients. This data will be helpful in planning further eNOS association studies in vascular access thrombosis.

Keywords: Endothelial nitric oxide synthase gene, thrombosis, chronic renal failure, polymorphism, arteriovenous fistula

Endoteliyal nitrik oksit sentaz geni G894T ve intron 4 VNTR polimorfizmlerinin hemodiyaliz hastalarındaki vasküler girişimsel trombozdaki rolü

Elif Funda Şener1, Ömer Naci Emiroğulları2, Faruk Serhatlıoğlu2, Yusuf Özkul4
1Departments of Medical Genetic aculty of Medicine, Erciyes University, Kayseri-Turkey
2Department of Cardiovascular Surgery, Faculty of Medicine, Erciyes University, Kayseri-Turkey
3Department of Cardiovascular Surgery, Faculty of Medicine, Erciyes University, Kayseri-Turkey
4Department of Medical Genetic, Faculty of Medicine, Erciyes University, Kayseri-Turkey

Amaç: Endoteliyal nitrik oksit sentaz (eNOS) geni kardiyovasküler ve renal hastalıklarla ilişkili bir gendir. eNOS geninde birçok polimorfik varyantlar tanımlanmıştır. Bu çalışmada kronik böbrek yetmezlikli hastalarda arteriovenöz fistül (AVF) tromboz ile intron 4 ve G894T polimorfizmlerinin potansiyel ilişkilerini araştırdık. Yöntemler: Çalışmaya AVF trombozu olan ve olmayan 79 kronik böbrek yetmezlikli hasta dahil edildi. Genotiplemeler için polimeraz zincir reaksiyonu (PCR) ve PCR-restriksiyon parça uzunluk polimorfizmleri (RFLP) yöntemleri kullanıldı. Gruplar arasındaki genotip ve allel dağılımı Ki-kare testi ile karşılaştırıldı. Bulgular: eNOS G894T genotip frekansları trombozlu ve trombozlu olmayan gruplarda istatistiksel olarak anlamlı değildi (p=0,1). eNOS geni intron 4 a alleli dağılımının ise gruplarda tromboz ile ilişkili olduğu görülmektedir. Sonuç: Bu çalışma eNOS intron 4 polimorfizmi ve trombozlu kronik böbrek yetmezlikli hastalarda ilişkili olduğunu ortaya çıkarmıştır. Bu veriler ileride planlanacak olan vasküler girişimsel tromboz ve eNOS ilişki çalışmalarına yardımcı olacaktır.

Anahtar Kelimeler: Endoteliyal nitrik oksit sentaz geni, tromboz, kronik böbrek yetmezliği, polimorfizm, arteriyovenöz fistül

Elif Funda Şener, Ömer Naci Emiroğulları, Faruk Serhatlıoğlu, Yusuf Özkul. The role of endothelial nitric oxide synthase gene G894T and intron 4 VNTR polymorphisms in hemodialysis patients with vascular access thrombosis. Anatol J Cardiol. 2014; 14(3): 239-243
Manuscript Language: English


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