Koroner Kalp Hastalığında Endotelyal Nitrik Oksit Sentaz RS1799983 (Glu298asp) Varyasyonunun Metabolik Etkilerinin İncelenmesi

Year 2016, Volume: 6 Issue: 12, 21 - 31, 01.12.2016

Hülya Yılmaz Aydoğan , Serap İlikay Zehra Buğra Oğuz Öztürk

Abstract

Amaç.
Koroner
kalp hastalığı (KKH) dünyada ölüm nedenlerinin başında gelen genetik ve çevresel

etkenlerin yol açtığı kompleks bir hastalıktır. KKH’na
yol açan ateroskleroz patogenezinde,
endotelyal

fonksiyon bozukluğu önemli bir anahtardır. Endotel hücreleri vasküler homeostaz ve nitrik oksit

üretimi gibi temel işlevlerini yerine getiremediğinde gelişen endotelyal disfonksiyon,
aterosklerotik

plak oluşumuna neden olur. Bu amaçla çalışmamızda eNOS (NOS3) geni rs1799983
(Glu298Asp) varyasyonunun

KKH 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+GT

genotipleri) taşıyanlara kıyasla vücut kitle indeksleri artmış bulundu. Ancak KKH hastalarında eNOS

rs1799983 varyasyonu metabolik ve
biyokimyasal parametrelerle ilişkili gözlenmemiştir (p>0.05).

Sonuç.
Bulgularımız eNOS rs1799983 varyasyonunun yüksek vücut kitle indeksi ile ilişkili olduğunu

düşündürmektedir.

Keywords

eNOS, Gen, vücut kitle indeksi, metabolizma, Koroner kalp hastalığı

Metabolic Effects of the RS1799983 Variation (Glu298asp) of the Endothelial Nitric Oxide Synthase in Coronary Heart Disease

Abstract

Objective.
Coronary heart disease (CHD) is a
complex disease caused by genetic and environmental

factors, being one of the major causes of death in the
world. Endothelial disfunction is important

key for atherosclerosis patogenesis leading to CHD.
Endothelial disfunction causes the formation of

atherosclerotic plaque when endothelial cells do not
perform ultimate functions such as vascular homeostasis

and nitric oxide (NO) production. In our study, we
purposed to investigate Endothelial NO

synthase (eNOS, NOS3) rs1799983 variation (Glu298Asp)
in CHD patients and determine its metabolic

effects on CHD development.

Material
and Methods. This study was carried out using
a sample of 75 CHD patients and 73

healthy controls. eNOS rs1799983 genotypes were
determined by polymerase chain reaction, restriction

fragment 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 study

groups, the body mass index was found to be increased
in the subjects with the TT (Asp/Asp) genotypes

as compared to G (Glu) allele (GG+GT genotypes).
However, eNOS rs1799983 was not associated

with 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.

Keywords

eNOS, Gene, body mass index, Metabolism, Coronary heart disease

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