Koroner Kalp Hastalığında Endotelyal Nitrik Oksit Sentaz RS1799983 (Glu298asp) Varyasyonunun Metabolik Etkilerinin İncelenmesi
Amaç. Koroner kalp hastalığı (KKH) dünyada ölüm nedenlerinin başında gelen genetik ve çevreseletkenlerin yol açtığı kompleks bir hastalıktır. KKH’na yol açan ateroskleroz patogenezinde, endotelyalfonksiyon bozukluğu önemli bir anahtardır. Endotel hücreleri vasküler homeostaz ve nitrik oksitüretimi gibi temel işlevlerini yerine getiremediğinde gelişen endotelyal disfonksiyon, aterosklerotikplak oluşumuna neden olur. Bu amaçla çalışmamızda eNOS (NOS3) geni rs1799983 (Glu298Asp) varyasyonununKKH riski açısından incelenmesi ve metabolik etkilerinin gösterilmesi hedeflenmiştir.Gereç ve Yöntem. Çalışma gruplarımız 75 KKH ve 73 gönüllü sağlıklı kontrolden oluşturulmuştur.NOS3 rs1799983 genotipleri PZR-RFLP teknikleri kullanılarak belirlenmiştir.Bulgular. KKH hasta ve kontrol gruplarında eNOS rs1799983 genotip ve allel dağılımları benzerdir(p>0.05). Çalışma gruplarında rs1799983 genotiplerinin metabolik parametreler üzerine etkileri incelendiğinde,kontrol grubunda eNOS nadir TT (Asp/Asp) genotipi taşıyan bireylerde G (Glu) alleli (GG+GTgenotipleri) taşıyanlara kıyasla vücut kitle indeksleri artmış bulundu. Ancak KKH hastalarında eNOSrs1799983 varyasyonu metabolik ve biyokimyasal parametrelerle ilişkili gözlenmemiştir (p>0.05).Sonuç. Bulgularımız eNOS rs1799983 varyasyonunun yüksek vücut kitle indeksi ile ilişkili olduğunu düşündürmektedir.
Metabolic Effects of the RS1799983 Variation (Glu298asp) of the Endothelial Nitric Oxide Synthase in Coronary Heart Disease
Objective. Coronary heart disease (CHD) is a complex disease caused by genetic and environmentalfactors, being one of the major causes of death in the world. Endothelial disfunction is importantkey for atherosclerosis patogenesis leading to CHD. Endothelial disfunction causes the formation ofatherosclerotic plaque when endothelial cells do not perform ultimate functions such as vascular homeostasisand nitric oxide (NO) production. In our study, we purposed to investigate Endothelial NOsynthase (eNOS, NOS3) rs1799983 variation (Glu298Asp) in CHD patients and determine its metaboliceffects on CHD development.Material and Methods. This study was carried out using a sample of 75 CHD patients and 73healthy controls. eNOS rs1799983 genotypes were determined by polymerase chain reaction, restrictionfragment lenght polymorphism and agarose gel electrophoresis.Results. The eNOS rs1799983 genotype distributions were the same between study groups (p>0.05).When the effects of the rs1799983 genotypes were examined on metabolic parameters in the studygroups, the body mass index was found to be increased in the subjects with the TT (Asp/Asp) genotypesas compared to G (Glu) allele (GG+GT genotypes). However, eNOS rs1799983 was not associatedwith metabolic and biochemical parameters in patients with CHD (p>0.05).Conclusion. Our findings indicate that the eNOS rs1799983 genotypes may be associated with elevated body mass index.
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