Skip to main content
Log in

Effect of SNP Polymorphisms of EDN1, EDNRA, and EDNRB Gene on Ischemic Stroke

  • Original Paper
  • Published:
Cell Biochemistry and Biophysics Aims and scope Submit manuscript

Abstract

The objective of this study is to investigate the association between SNP polymorphisms of endothelin-1 (EDN1) and endothelin receptor (EDNRA and EDNRB) gene and ischemic stroke (IS) in the Chinese Han population in northern. A case–control study was introduced. We genotyped eight SNPs (rs1800541, rs2070699, and rs5370 in EDN1 gene; rs1801708, rs5333, and rs5335 in EDNRA gene; and rs3818416 and rs5351 in EDNRB gene) and calculated their polymorphic distribution in control group, IS group, and the IS subgroups. In male population, EDN1 gene rs2070699 G allele increased the incidence risk to 1.78 times (P = 0.009; OR 1.78; 95 % CI 1.15–2.75) and the risk of morbidity of rs5370 T allele carrying increased to 1.49 times (P = 0.048; OR 1.49; 95 % CI 1.00–2.21). EDNRA gene mutation rs5335 homozygous CC morbidity risk was significantly lower (P = 0.016; OR 0.52; 95 % CI 0.31–0.88). In the female population, the mutant homozygous AA cancer risk was significantly higher than G allele carriers (P = 0.019; OR 2.65; 95 % CI 1.18–6.00) on EDNRA gene rs1801708. In EDN1 gene, T allele of rs5370 and G allele of rs2070699 may be IS incidence risk factors in Northern Han male population. A allele of rs1801708 in EDNRA gene can increase the risk of IS in Northern Han women population.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Yanagisawa, M., Kurihara, H., Kimura, S., et al. (1988). A novel potent vasoconstrictor peptide produced by vascular endothelial cells[J]. Nature, 332(6163), 411–415.

    Article  CAS  PubMed  Google Scholar 

  2. von Websky, K., Heiden, S., Pfab, T., et al. (2009). Pathophysiology of the endothelin system—Lessons from genetically manipulated animal models[J]. European Journal of Medical Research, 14(1), 1–6.

    Google Scholar 

  3. Jin, J. J., Nakura, J., Wu, Z., et al. (2003). Association of endothelin-1 gene variant with hypertension[J]. Hypertension, 41(1), 163–167.

    Article  CAS  PubMed  Google Scholar 

  4. Barath, A., Endreffy, E., Bereczki, C., et al. (2007). Endothelin-1 gene and endothelial nitric oxide synthase gene polymorphisms in adolescents with juvenile and obesity-associated hypertension[J]. Acta Physiologica Hungarica, 94(1–2), 49–66.

    Article  CAS  PubMed  Google Scholar 

  5. Pare, G., Serre, D., Brisson, D., et al. (2007). Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol[J]. American Journal of Human Genetics, 80(4), 673–682.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  6. Liwei, Hang, Jianzhong, Zhou, Zhen, Wang, et al. (2009). Association between genetic polymorphism of ET-1 and hypertensive ischemic stroke[J]. Journal of Southwest University (Natural Science Edition), 31(01), 116–121.

    Google Scholar 

  7. Zhu, G., Carlsen, K., Carlsen, K. H., et al. (2008). Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations[J]. Genes and Immunity, 9(1), 23–29.

    Article  CAS  PubMed  Google Scholar 

  8. Panoulas, V. F., Douglas, K. M., Smith, J. P., et al. (2008). Polymorphisms of the endothelin-1 gene associate with hypertension in patients with rheumatoid arthritis[J]. Endothelium, 15(4), 203–212.

    Article  CAS  PubMed  Google Scholar 

  9. Mazzuca, M. Q., & Khalil, R. A. (2012). Vascular endothelin receptor type B: Structure, function and dysregulation in vascular disease[J]. Biochemical Pharmacology, 84(2), 147–162.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  10. Yasuda, H., Kamide, K., Takiuchi, S., et al. (2007). Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension[J]. Journal of Human Hypertension, 21(11), 883–892.

    Article  CAS  PubMed  Google Scholar 

  11. Darrah, R., McKone, E., O’Connor, C., et al. (2010). EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity[J]. Physiological Genomics, 41(1), 71–77.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  12. Rahman, T., Baker, M., Hall, D. H., et al. (2008). Common genetic variation in the type A endothelin-1 receptor is associated with ambulatory blood pressure: A family study[J]. Journal of Human Hypertension, 22(4), 282–288.

    Article  CAS  PubMed  Google Scholar 

  13. Schiffrin, E. L., Deng, L. Y., Sventek, P., et al. (1997). Enhanced expression of endothelin-1 gene in resistance arteries in severe human essential hypertension[J]. Journal of Hypertension, 15(1), 57–63.

    Article  CAS  PubMed  Google Scholar 

  14. Tiret, L., Poirier, O., Hallet, V., et al. (1999). The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people[J]. Hypertension, 33(5), 1169–1174.

    Article  CAS  PubMed  Google Scholar 

  15. Barath, A., Endreffy, E., Bereczki, C., et al. (2007). Endothelin-1 gene and endothelial nitric oxide synthase gene polymorphisms in adolescents with juvenile and obesity-associated hypertension[J]. Acta Physiologica Hungarica, 94(1–2), 49–66.

    Article  CAS  PubMed  Google Scholar 

  16. Tiret, L., Poirier, O., Hallet, V., et al. (1999). The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people[J]. Hypertension, 33(5), 1169–1174.

    Article  CAS  PubMed  Google Scholar 

  17. Calabro, P., Limongelli, G., Maddaloni, V., et al. (2012). Analysis of endothelin-1 and endothelin-1 receptor A gene polymorphisms in patients with pulmonary arterial hypertension[J]. Internal and Emergency Medicine, 7(5), 425–430.

    Article  PubMed  Google Scholar 

  18. Schulz, U. G., Flossmann, E., & Rothwell, P. M. (2004). Heritability of ischemic stroke in relation to age, vascular risk factors, and subtypes of incident stroke in population-based studies[J]. Stroke, 35(4), 819–824.

    Article  CAS  PubMed  Google Scholar 

  19. Gormley, K., Bevan, S., Hassan, A., et al. (2005). Polymorphisms in genes of the endothelin system and cerebral small-vessel disease[J]. Stroke, 36(8), 1656–1660.

    Article  CAS  PubMed  Google Scholar 

  20. MacClellan, L. R., Howard, T. D., Cole, J. W., et al. (2009). Relation of candidate genes that encode for endothelial function to migraine and stroke: The Stroke Prevention in Young Women study[J]. Stroke, 40(10), e550–e557.

    Article  PubMed Central  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Rubo Sui.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zhang, L., Sui, R. Effect of SNP Polymorphisms of EDN1, EDNRA, and EDNRB Gene on Ischemic Stroke. Cell Biochem Biophys 70, 233–239 (2014). https://doi.org/10.1007/s12013-014-9887-6

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12013-014-9887-6

Keywords

Navigation