Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene

Hypertension

Volumn 62, Issue 5, 2013, Pages 844-852

  Salvi, Erika ^a   Kuznetsova, Tatiana ^a   Thijs, Lutgarde ^a   Lupoli, Sara ^a   Stolarz Skrzypek, Katarzyna ^a   D'Avila, Francesca ^a   Tikhonoff, Valerie ^a   De Astis, Silvia ^a   Barcella, Matteo ^a   Seidlerová, Jitka ^a   Benaglio, Paola ^a   Malyutina, Sofia ^a   Frau, Francesca ^a   Velayutham, Dinesh ^a   Benfante, Roberta ^a   Zagato, Laura ^a   Title, Alexandra ^a   Braga, Daniele ^a   Marek, Diana ^a   Kawecka Jaszcz, Kalina ^a   Casiglia, Edoardo ^a   Filipovský, Jan ^a   Nikitin, Yuri ^a   Rivolta, Carlo ^a   Manunta, Paolo ^a   Beckmann, Jacques S ^a   Barlassina, Cristina ^a   Cusi, Daniele ^a   Staessen, Jan A ^a   more..

^a NONE

Author keywords

blood pressure; endothelial nitric oxide synthase gene; hypertension; population science; target sequencing; transfection

Indexed keywords

CYSTEINE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; LUCIFERASE; THREONINE; TRANSCRIPTION FACTOR;

ADULT; ALLELE; ARTICLE; ASSAY; ATTRIBUTABLE RISK; BINDING SITE; CONTROLLED STUDY; DIASTOLIC BLOOD PRESSURE; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HYPERTENSION; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE; BLOOD PRESSURE; CASE CONTROL STUDY; CAUCASIAN; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PATHOPHYSIOLOGY; VASCULAR ENDOTHELIUM;

ADULT; ALLELES; BLOOD PRESSURE; CASE-CONTROL STUDIES; ENDOTHELIUM, VASCULAR; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; HYPERTENSION; MALE; MIDDLE AGED; NITRIC OXIDE SYNTHASE TYPE III; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 84886381666     PISSN: 0194911X     EISSN: 15244563     Source Type: Journal    
DOI: 10.1161/HYPERTENSIONAHA.113.01428     Document Type: Article

References (38)

1. Staessen JA, Wang J, Bianchi G, Birkenhäger WH. Essential hypertension. Lancet. 2003;361:1629-1641.
2. Staessen JA, Kuznetsova T, Stolarz K. Hypertension prevalence and stroke mortality across populations. JAMA. 2003;289:2420-2422.
3. Prospective Studies Collaboration. Age-specific relevance of usual blood pressure to vascular mortality: a meta-analysis of individual data for one million adults in 61 prospective studies. Lancet. 2002;360:1903-1913.
4. Lopez AD, Mathers CD, Ezzati M, Jamison DT, Murray CJ. Global and regional burden of disease and risk factors, 2001: systematic analysis of population health data. Lancet. 2006;367:1747-1757.
5. Newton-Cheh C, Johnson T, Gateva V, et al; Wellcome Trust Case Control Consortium. Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet. 2009;41:666-676.
6. Johnson T, Gaunt TR, Newhouse SJ, et al; Cardiogenics Consortium; Global BPgen Consortium. Blood pressure loci identified with a genecentric array. Am J Hum Genet. 2011;89:688-700.
7. Salvi E, Kutalik Z, Glorioso N, et al. Genome-wide association study using a high-density SNP-array and case-control design identifies a novel hypertension susceptibility locus in the promoter region of eNOS. Hypertension. 2012;59:248-255.
8. Li Y, Willer C, Sanna S, Abecasis G. Genotype imputation. Annu Rev Genomics Hum Genet. 2009;10:387-406.
9. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol. 2010;34:816-834.
10. Staessen JA, Wang JG, Brand E, Barlassina C, Birkenhäger WH, Herrmann SM, Fagard R, Tizzoni L, Bianchi G. Effects of three candidate genes on prevalence and incidence of hypertension in a Caucasian population. J Hypertens. 2001;19:1349-1358.
11. Stolarz-Skrzypek K, Kuznetsova T, Thijs L, Tikhonoff V, Seidlerová J, Richart T, Jin Y, Olszanecka A, Malyutina S, Casiglia E, Filipovský J, Kawecka-Jaszcz K, Nikitin Y, Staessen JA, on behalf of the European Project on Genes in Hypertension (EPOGH) Investigators. Fatal and nonfatal outcomes, incidence of hypertension and blood pressure changes in relation to urinary sodium excretion in White Europeans. JAMA. 2011;305:1777-1785.
12. Kuznetsova T, Staessen JA, Kawecka-Jaszcz K, Babeanu S, Casiglia E, Filipovsky J, Nachev C, Nikitin Y, Peleskã J, O'Brien E. Quality control of the blood pressure phenotype in the European Project on Genes in Hypertension. Blood Press Monit. 2002;7:215-224.
13. World Medical Association Declaration of Helsinki. Ethical principles for medical research involving human subjects. Bull World Health Organ. 2001;79:373-374.
14. Lurbe E, Cifkova R, Cruickshank JK, et al; European Society of Hypertension. Management of high blood pressure in children and adolescents: recommendations of the European Society of Hypertension. J Hypertens. 2009;27:1719-1742.
15. Holtzman NA, Marteau TM. Will genetics revolutionize medicine? N Engl J Med. 2000;343:141-144.
16. Matys V, Fricke E, Geffers R, et al. TRANSFAC: transcriptional regulation, from patterns to profiles. Nucleic Acids Res. 2003;31:374-378.
17. Akiyama T. TFSEARCH: Searching Transcription Factor Binding Sites, ver 1.3 (accessed 16 December 2012).
18. Karantzoulis-Fegaras F, Antoniou H, Lai SL, Kulkarni G, D'Abreo C, Wong GK, Miller TL, Chan Y, Atkins J, Wang Y, Marsden PA. Characterization of the human endothelial nitric-oxide synthase promoter. J Biol Chem. 1999;274:3076-3093.
19. Luizon MR, Metzger IF, Lacchini R, Tanus-Santos JE. Endothelial nitric oxide synthase polymorphism rs3918226 associated with hypertension does not affect plasma nitrite levels in healthy subjects. Hypertension. 2012;59:e52; author reply e53.
20. Salvi E, Cusi D. Response to endothelial nitric oxide synthase polymorphism rs3918226 associated with hypertension does not affect plasma nitrite levels in healthy subjects. Hypertension. 2012;59:e53.
21. Förstermann U, Sessa WC. Nitric oxide synthases: regulation and function. Eur Heart J. 2012;33:829-837, 837a.
22. Li H, Förstermann U. Nitric oxide in the pathogenesis of vascular disease. J Pathol. 2000;190:244-254.
23. Haynes WG, Noon JP, Walker BR, Webb DJ. Inhibition of nitric oxide synthesis increases blood pressure in healthy humans. J Hypertens. 1993;11:1375-1380.
24. Rees DD, Palmer RM, Moncada S. Role of endothelium-derived nitric oxide in the regulation of blood pressure. Proc Natl Acad Sci U S A. 1989;86:3375-3378.
25. Huang PL, Huang Z, Mashimo H, Bloch KD, Moskowitz MA, Bevan JA, Fishman MC. Hypertension in mice lacking the gene for endothelial nitric oxide synthase. Nature. 1995;377:239-242.
26. Fleming I, Busse R. Molecular mechanisms involved in the regulation of the endothelial nitric oxide synthase. Am J Physiol Regul Integr Comp Physiol. 2003;284:R1-12.
27. Niu W, Qi Y. An updated meta-analysis of endothelial nitric oxide synthase gene: three well-characterized polymorphisms with hypertension. PLoS One. 2011;6:e24266.
28. Nakayama M, Yasue H, Yoshimura M, Shimasaki Y, Kugiyama K, Ogawa H, Motoyama T, Saito Y, Ogawa Y, Miyamoto Y, Nakao K. T-786->C mutation in the 5′-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation. 1999;99:2864-2870.
29. The International Consortium for Blood Pressure Genome-Wide Association Studies, Ehret GB, Munroe PB, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011;478:103-109.
30. Zhang X, Lynch AI, Davis BR, Ford CE, Boerwinkle E, Eckfeldt JH, Leiendecker-Foster C, Arnett DK. Pharmacogenetic associations of NOS3 variants with cardiovascular disease in patients with hypertension: the GenHAT Study. PLoS ONE. 2012;7:e34217. doi:10.1371/journal. pone.0034217.
31. Conen D, Glynn RJ, Buring JE, Ridker PM, Zee RY. Association of reninangiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study. J Hypertens. 2008;26:1780-1786.
32. Seidlerová J, Filipovský J, Mayer O, Jr, Cifková R, Pešta M, Blatný R, Vanek J. Association between endothelial NO synthase polymorphism (rs3918226) and arterial properties. Artery Res. 2013;7:54-59.
33. Bradford-Hill A. The environment and disease: association or causation. Proc Royal Soc Med. 1965;58:295-300.
34. The ALLHAT Officers and Coordinators for the ALLHAT Collaborative Research Group. Major outcomes in high-risk hypertensive patients randomized to angiotensin-converting enzyme inhibitor or calcium channel blocker vs diuretic. The Antihypertensive and Lipid- Lowering Treatment to Prevent Heart Attack Trial (ALLHAT). JAMA. 2003;288:2981-2997.
35. Berkels R, Taubert D, Bartels H, Breitenbach T, Klaus W, Roesen R. Amlodipine increases endothelial nitric oxide by dual mechanisms. Pharmacology. 2004;70:39-45.
36. Ganafa AA, Walton M, Eatman D, Abukhalaf IK, Bayorh MA. Amlodipine attenuates oxidative stress-induced hypertension. Am J Hypertens. 2004;17:743-748.
37. Reffelmann T, Kloner RA. Therapeutic potential of phosphodiesterase 5 inhibition for cardiovascular disease. Circulation. 2003;108:239-244.
38. Stasch JP, Pacher P, Evgenov OV. Soluble guanylate cyclase as an emerging therapeutic target in cardiopulmonary disease. Circulation. 2011;123:2263-2273.