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Int J Mol Epidemiol Genet 2010;1(3):208-213.

Original Article
Endothelin-1 and endothelial nitric oxide polymorphisms in idiopathic
pulmonary arterial hypertension

Shivani Vadapalli, H.Surekha Rani, B.K.S. Sastry, Pratibha Nallari

Department of Genetics, Osmania University, Hyderabad, A.P.,India – 500007; Department of Cardiology, CARE
Hospitals, Nampally, Hyderabad, A.P.,India -500001.

Received January 12, 2010, accepted June 8, 2010, available online June 15, 2010

Abstract: Idiopathic Pulmonary arterial hypertension (IPAH) is a debilitating disease associated with very poor prognosis.
The disease is characterised by endothelial dysfunction, smooth muscle proliferation and insitu thrombosis in the
pulmonary artery, eventually leading to right ventricular failure. Two of the key endothelial mediators implicated in the
pathogenesis of IPAH are endothelin-1 (EDN1) and nitric oxide (NO). EDN1 is a potent endogenous vasoconstrictor
whereas NO is a vasodilator. In the present study screening of the EDN1 gene (EDN1) and NOS3 polymorphisms was
taken up, to evaluate their association with IPAH. A significant association of EDN1 3A/4A polymorphism (+138 A;
rs10478694) (OR-3.485; CI-1.254, 9.999; p=0.013) and EDN1 Lys198Asn polymorphism (G/T, rs5370) (OR-3.378,
CI-1.104, 10.582; p=0.03) with IPAH was observed. Our results indicate that EDN1 polymorphisms in interaction with
other genetic markers may play a significant role in individual’s susceptibility to the disease and its clinical progression.

Key words: IPAH, endothelial dysfunction, EDN1, NOS3, polymorphism, Linkage Disequilibrium

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Address all correspondence to:
Pratibha Nallari, PhD
Department of Genetics, Osmania University
Hyderabad, A.P.,India – 500007.