Association between endothelial NO synthase polymorphism (rs3918226) and arterial properties

Jitka Seidlerová; Jan Filipovský; Otto Mayer; Renata Cífková; Martin Pešta; Radek Blatný; Jiří Vaněk

doi:10.1016/j.artres.2012.11.002

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Volume 7, Issue 1, March 2013, Pages 54 - 59

Association between endothelial NO synthase polymorphism (rs3918226) and arterial properties

Authors

Jitka Seidlerová^a^{, *}, Jan Filipovský^a, Otto Mayer^a, Renata Cífková^b, Martin Pešta^c, Radek Blatný^d, Jiří Vaněk^a

^aDepartment of Internal Medicine II, Charles University, Pilsen, Czech Republic

^bDepartment of Preventive Cardiology, Thomayer Faculty Hospital, Prague, Czech Republic

^cLaboratory of Genetics, Charles University, Pilsen, Czech Republic

^dKRD Ltd., Prague, Czech Republic

^*Corresponding author. Department of Internal Medicine II, Faculty of Medicine in Pilsen, Charles University, Edvarda Beneše 13, 305 99 Plzeň, Czech Republic. Tel.: +420 377 402 250, +420 777 578 748 (mobile); fax: +420 377 402 374. E-mail address: seidlerovaji@fnplzen.cz (J. Seidlerová).

Corresponding Author

Jitka Seidlerová

Received 11 September 2012, Revised 30 October 2012, Accepted 20 November 2012, Available Online 11 December 2012.

DOI: 10.1016/j.artres.2012.11.002 How to use a DOI?
Keywords: Arterial stiffness; Pulse wave velocity; Endothelial NO synthase; Genetics
Abstract: Background: Recently, rs3918226 polymorphism in the promoter region of endothelial NO synthase (eNOS) was strongly associated with arterial hypertension in a large genome-wide association study. We investigated whether this polymorphism was associated with arterial phenotypes in a Czech general population.

Methods: In a pilot study, we genotyped 101 untreated subjects (mean age, 54.0 years). Arterial properties were measured using SphygmoCor. We used robust multivariate analysis to assess whether rs3918226 was associated with peripheral or central blood pressure, carotid-femoral pulse wave velocity (PWV) and aortic augmentation index (AIx). As independent covariates we considered sex, age, MAP, heart rate and smoking.

Results: Frequencies of rs3918226 genotypes were CC 85.2%, CT 14.8%, and TT 0%. Current smokers carrying mutated T allele had marginally higher PWV (10.0 ± 0.8 vs. 8.7 ± 0.4 m/s; P = 0.051) and significantly higher AIx (172.2 ± 6.8 vs. 153.2 ± 3.8%; P = 0.024) compared to CC homozygotes. In non-smokers we did not find any association between rs3918226 and arterial properties (P ≥ 0.62). Moreover, we did not observe any association between either peripheral or central blood pressure and the polymorphism under study (P ≥ 0.58).

Conclusions: This is the first study to explore the association of rs3918226 polymorphism in eNOS gene with arterial properties. Mutated T allele was associated with higher PWV and AIx in smokers. We hypothesize that genetic modulation of intermediate arterial phenotypes might lead to higher blood pressure. As the prevalence of T allele is low, further study with a sufficient number of subjects is warranted.
Open Access: This is an open access article distributed under the CC BY-NC license.

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Journal: Artery Research
Volume-Issue: 7 - 1
Pages: 54 - 59
Publication Date: 2012/12/11
ISSN (Online): 1876-4401
ISSN (Print): 1872-9312
DOI: 10.1016/j.artres.2012.11.002 How to use a DOI?
Open Access: This is an open access article distributed under the CC BY-NC license.

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ris enw bib

TY  - JOUR
AU  - Jitka Seidlerová
AU  - Jan Filipovský
AU  - Otto Mayer
AU  - Renata Cífková
AU  - Martin Pešta
AU  - Radek Blatný
AU  - Jiří Vaněk
PY  - 2012
DA  - 2012/12/11
TI  - Association between endothelial NO synthase polymorphism (rs3918226) and arterial properties
JO  - Artery Research
SP  - 54
EP  - 59
VL  - 7
IS  - 1
SN  - 1876-4401
UR  - https://doi.org/10.1016/j.artres.2012.11.002
DO  - 10.1016/j.artres.2012.11.002
ID  - Seidlerová2012
ER  -

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