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Polymorphisms of endothelin-1 system genes and risk of essential hypertension

https://doi.org/10.1234/XXXX-XXXX-2015-10-29-35

Abstract

Endothelin-1 system plays an important role in regulation of vascular tone and vascular remodeling. The aim of the current study was to perform an analysis of association between essential hypertension and polymorphic variants in genes, encoding endothelin-1, endothelin-converting enzyme, endothelin receptors A and B, in the ethnic group of Tatars residing in the Republic of Bashkortostan. We found an association of EDNRA rs6842241 and EDNRB rs5351 polymorphic variants with essential hypertension in men. Furthermore, an increased risk of essential hypertension was detected for the carriers of EDNRA *G/G genotype and EDNRB *C allele combination, while EDNRA *C and EDNRB *A alleles combination had protective effect against the development of the disease.

About the Authors

Y. R. Timasheva
Institute if Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences
Russian Federation


T. R. Nasibullin
Institute if Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences
Russian Federation


E. B. Imaeva
Institute if Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences
Russian Federation


G. Kh. Mirsaeva
Bashkir State Medical University
Russian Federation


O. E. Mustafina
Institute if Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences
Russian Federation


References

1. An S.J. et al. Endothelin-1 expression in vascular adventitial fibroblasts // American Journal of Physiology-Heart and Circulatory Physiology. - 2006. - Vol. 290, № 2. - H700-H708.

2. Asai T. et al. Endothelin-1 Gene Variant Associates With Blood Pressure in Obese Japanese Subjects The Ohasama Study // Hypertension. - 2001. - Vol. 38, № 6. - P. 1321-1324.

3. Banno M., Hanada H., Kamide K. et al. Association of genetic polymorphisms of endothelin-converting enzyme-1 gene with hypertension in a Japanese population and rare missense mutation in preproendothelin-1 in Japanese hypertensives // Hypertension Research. - 2007. - Vol. 30, № 6. - P. 513.

4. Barden A.E., Herbison C.E., Beilin L.J. et al. Association between the endothelin-1 gene Lys198Asn polymorphism blood pressure and plasma endothelin-1 levels in normal and pre-eclamptic pregnancy // Journal of hypertension. - 2001. - Vol. 19, № 10. - P. 1775-1782.

5. Benjafield A.V., Katyk K., Morris B.J. Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension // Clinical genetics. - 2003. - Vol. 64, № 5. - P. 433-438.

6. Caprioli J. et al. Polymorphisms of EDNRB, ATG, and ACE genes in salt-sensitive hypertension // Canadian journal of physiology and pharmacology. - 2008. - Vol. 86, № 8. - P. 505-510.

7. Chade A.R., Stewart N.J., Peavy P.R. Disparate effects of single endothelin-A and-B receptor blocker therapy on the progression of renal injury in advanced renovascular disease // Kidney international. - 2014. - Vol. 85, № 4. - P. 833-844.

8. de Zeeuw D. et al. The endothelin antagonist atrasentan lowers residual albuminuria in patients with type 2 diabetic nephropathy // J. Am. Soc. Nephrol. - 2014. - Vol. 25, № 5. - P. 1083-1093.

9. D’Orleans-Juste P. et al. Synthesis and degradation of endothelin-1 // Canadian journal of physiology and pharmacology. - 2003. - Vol. 81, № 6. - P. 503-510.

10. Dzholdasbekova A.U., Gaipov A.E. The association between polymorphism of Lys198Asn of endothelin-1 gene and arterial hypertension risk in Kazakh people // European Journal of General Medicine. - 2010. - Vol. 7, № 2.

11. Favorov A.V. et al. A Markov chain Monte Carlo technique for identification of combinations of allelic variants underlying complex diseases in humans // Genetics. - 2005. - Vol. 171, № 4. - P. 2113-2121.

12. Funalot B., Courbon D., Brousseau T. et al. Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study // Journal of hypertension. - 2004. - Vol. 22, № 4. - P. 739-743.

13. Funke-Kaiser H. et al. Differential binding of transcription factor E2F-2 to the endothelin-converting enzyme-1b promoter affects blood pressure regulation // Human molecular genetics. - 2003. - Vol. 12, № 4. - P. 423-433.

14. Gu D., Zhao Q., Kelly T.N. et al. The Role of the Kallikrein-Kinin System Genes in the Salt Sensitivity of Blood Pressure The GenSalt Study // American journal of epidemiology. - 2012. - Vol. 176. - Suppl 7. - P. S72-S80.

15. Hiyama T.Y. et al. Endothelin-3 expression in the subfornical organ enhances the sensitivity of Na x, the brain sodium-level sensor, to suppress salt intake // Cell metabolism. - 2013. - Vol. 17, № 4. - P. 507-519.

16. Iemitsu M. et al. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects // Hypertension. - 2006. - Vol. 47, № 5. - P. 928-936.

17. Jiang C. et al. Acute effect of 17 beta-estradiol on rabbit coronary artery contractile responses to endothelin-1 // American Journal of Physiology-Heart and Circulatory Physiology. - 1992. - Vol. 263, № 1. - P. H271-H275.

18. Jin J.J., Nakura J., Wu Z. et al. Association of endothelin-1 gene variant with hypertension // Hypertension. - 2003. - Vol. 41, № 1. - P. 163-167.

19. Kohan D.E. et al. Regulation of blood pressure and salt homeostasis by endothelin // Physiological reviews. - 2011. - Vol. 91, № 1. - P. 1-77.

20. Lenoir O. et al. Direct action of endothelin-1 on podocytes promotes diabetic glomerulosclerosis // Journal of the American Society of Nephrology. - 2014. - Vol. 25, № 5. - P. 1050-1062.

21. Ling L., Maguire J.J., Davenport A.P. Endothelin-2, the forgotten isoform: emerging role in the cardiovascular system, ovarian development, immunology and cancer // British journal of pharmacology. - 2013. - Vol. 168, № 2. - P. 283-295.

22. Low S.K. et al. Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA // Human molecular genetics. - 2012. - dds020.

23. Papassotiriou J. et al. Immunoluminometric assay for measurement of the C-terminal endothelin-1 precursor fragment in human plasma // Clinical chemistry. - 2006. - Vol. 52, № 6. - P. 1144-1151.

24. Rahman T., Baker M., Hall D.H. et al. Common genetic variation in the type A endothelin-1 receptor is associated with ambulatory blood pressure: a family study // Journal of human hypertension. - 2008. - Vol. 22, № 4. - P. 282-288.

25. Rankinen T. et al. Effect of endothelin 1 genotype on blood pressure is dependent on physical activity or fitness levels // Hypertension. - 2007. - Vol. 50, № 6. - P. 1120-1125.

26. Taillе C. et al. ETB receptor polymorphism is associated with airway obstruction // BMC pulmonary medicine. - 2007. - Vol. 7, № 1. - P. 5.

27. Tatchum-Talom R. et al. Gender differences in hemodynamic responses to endothelin-1 // Journal of cardiovascular pharmacology. - 2000. - Vol. 36. - P. S102.

28. Tiret L. et al. The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people // Hypertension. - 1999. - Vol. 33, № 5. - P. 1169-1174.

29. Treiber F.A., Barbeau P., Harshfield G. et al. Endothelin-1 gene Lys198Asn polymorphism and blood pressure reactivity // Hypertension. - 2003. - Vol. 42, № 4. - P. 494-499.

30. Vadapalli S., Rani H.S., Sastry B.K.S. et al. Endothelin-1 and endothelial nitric oxide polymorphisms in idiopathic pulmonary arterial hypertension // International journal of molecular epidemiology and genetics. - 2010. - Vol. 1, № 3. - P. 208.

31. Verweij N. et al. Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1 // Hypertension. - 2013. - Vol. 61, № 3. - P. 602-608.

32. Wiltshire S., Powell B.L., Jennens M. et al. Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease // Human genetics. - 2008. - Vol. 123, № 3. - P. 307-313.

33. Yanagisawa M. et al. A novel potent vasoconstrictor peptide produced by vascular endothelial cells // Nature. - 1988. - Vol. 332, № 6163. - P. 411-415.

34. Yasuda H. et al. Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension // Journal of human hypertension. - 2007. - Vol. 21, № 11. - P. 883-892.

35. Yasuno K. et al. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk // Proceedings of the National Academy of Sciences. - 2011. - Vol. 108, № 49. - P. 19707-19712.


Review

For citations:


Timasheva Y.R., Nasibullin T.R., Imaeva E.B., Mirsaeva G.Kh., Mustafina O.E. Polymorphisms of endothelin-1 system genes and risk of essential hypertension. Medical Genetics. 2015;14(10):29-35. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-10-29-35

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