Research Article
Endothelial Nitric Oxide Synthase Gene Polymorphisms and the
Risk of Hypertension in an Indian Population
Priyanka Shankarishan,
1
Prasanta Kumar Borah,
1
Giasuddin Ahmed,
2
and Jagadish Mahanta
1
1
Regional Medical Research Centre, NE Region, ICMR, P.O. Box 105, Dibrugarh, Assam 786001, India
2
Department of Biotechnology, Gauhati University, Guwahati, Assam 781014, India
Correspondence should be addressed to Jagadish Mahanta; jmahanta@hotmail.com
Received 28 February 2014; Revised 2 July 2014; Accepted 16 July 2014; Published 6 August 2014
Academic Editor: Kazuhiko Kotani
Copyright © 2014 Priyanka Shankarishan et al. Tis is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
cited.
Genetic variants of eNOS gene play a signifcant role in the pathogenesis of hypertension. Many environmental factors have, also,
been implicated in the aetiology of hypertension. We carried out an age-matched case-control study among adults. Hypertension
was defned according to JNC-VII criteria and eNOS gene polymorphisms were determined by PCR and PCR followed by PCR-
RFLP. eNOS intron 4 aa genotype (adjusted OR 6.81; 95% CI 2.29–20.25) and eNOS 894TT genotype (adjusted OR 7.84; 95% CI
2.57–23.96) were associated with the risk of hypertension. Tobacco users (either smoking/chewing or both) with eNOS intron 4 aa
genotype (OR 14.00: 95% CI 1.20–163.37), eNOS 894GG genotype (OR 5.56: 95% CI 3.72–8.31), and eNOS T-786C CC genotype
(OR 9.00: 95% CI 1.14–71.04) were at an increased risk of hypertension. Similarly a signifcant gene-environment interaction was
observed between individuals consuming alcohol with eNOS intron 4 aa genotype (OR 12.00: 95% CI 1.20–143.73) and eNOS 894GG
genotype (OR 1.95: 95% CI 1.35–2.81). Te present study identifed few susceptible genotypes of the eNOS gene with the risk of
hypertension. Moreover, the interactive efects between the environmental factors and the risk of hypertension were dependent on
the eNOS genotypes.
1. Introduction
Nitric oxide (NO) produced from L-arginine by endothelial
nitric oxide synthase (eNOS) plays a signifcant role in the
regulation of vascular tone and in the control of blood
pressure [1]. Reduction in basal NO release may predispose
to hypertension, thrombosis, vasospasm, and atherosclerosis
[2] and inhibition of eNOS elevates blood pressure in healthy
humans [3]. Studies have shown that disruption of eNOS
gene leads to hypertension in mice [4]. Furthermore, whole-
body NO production in patients with essential hypertension
is diminished under basal conditions [5]. Because of these
important evidences of NO and eNOS involvement in the
blood pressure regulation, the eNOS gene has therefore been
studied as a putative candidate gene for hypertension. A
number of eNOS gene polymorphisms have been identifed
so far. Among these, eNOS gene intron 4 ab polymorphism,
eNOS gene exon 7 Glu298Asp variant (rs 1799983), and
eNOS gene T786C polymorphism (rs 2070744) have been
most studied for an association with hypertension. Although
the role of eNOS gene polymorphisms in the incidence of
hypertension seems to vary in diferent populations, only
few studies on these polymorphisms have been conducted in
Indian population [6, 7].
Moreover, the complex interplay between the environ-
mental factors and genes for the risk of hypertension is
still not clear and many dietary and lifestyle factors have
been implicated in the aetiology of hypertension. In earlier
studies, both tobacco use (either smoking/chewing or both)
and alcohol consumption were associated with an increased
risk of hypertension [8–10]. We, in our previous study [11],
have illustrated a dose-response relation between the number
Hindawi Publishing Corporation
BioMed Research International
Volume 2014, Article ID 793040, 11 pages
http://dx.doi.org/10.1155/2014/793040