Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Research Letter
  • Published:

Genetic and functional analyses of aldosterone synthase gene C-344T polymorphism with essential hypertension

Journal of Human Hypertension volume 24, pages 427–429 (2010)Cite this article

Subjects

Hypertension is a polygenic disorder with a train of genes listed as potential candidates. Thereof, the aldosterone synthase gene ( CYP11B2 ) ranks high on account of its pivotal role in catalysing the biosynthesis of aldosterone. 1 The overall effect of aldosterone is to increase re-absorption of ions and water in the kidney, and thus lead to elevated blood pressure.

Widely evaluated within CYP11B2 concerns a promoter polymorphism, C-344T (rs1799998), which is located in an enhancer element that affects a putative steroidogenic factor-1 (SF-1) binding capacity.2 So far, dozens of studies associating C-344T with hypertension have been conducted, whereas results are often irreproducible.3, 4, 5, 6 It is generally accepted that an association study, coupled with functional validation, represents a powerful approach to deciphering the genetic makeup of complex disease.7 However, a literature search did not trace any functional hints about the promoter activity changes driven by C-344T. Therefore, we aimed to investigate whether the C-344T polymorphism was associated with essential hypertension among the Shanghai Chinese, and to further explore the in vitro biological relevance of this polymorphism to the CYP11B2 promoter activity in 293T cell line, a type of human embryonic kidney line.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1

References

  1. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992; 355: 262–265.

    Article  CAS  Google Scholar 

  2. Bassett MH, Zhang Y, Clyne C, White PC, Rainey WE . Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1. J Mol Endocrinol 2002; 28: 125–135.

    Article  CAS  Google Scholar 

  3. Gu D, Ge D, He J, Li B, Chen J, Liu D et al. Haplotypic analyses of the aldosterone synthase gene CYP11B2 associated with stage-2 hypertension in northern Han Chinese. Clin Genet 2004; 66: 409–416.

    Article  CAS  Google Scholar 

  4. Rajput C, Makhijani K, Norboo T, Afrin F, Sharma M, Pasha ST et al. CYP11B2 gene polymorphisms and hypertension in highlanders accustomed to high salt intake. J Hypertens 2005; 23: 79–86.

    Article  CAS  Google Scholar 

  5. Henderson SO, Haiman CA, Mack W . Multiple polymorphisms in the renin-angiotensin-aldosterone system (ACE, CYP11B2, AGTR1) and their contribution to hypertension in African Americans and Latinos in the multiethnic cohort. Am J Med Sci 2004; 328: 266–273.

    Article  Google Scholar 

  6. Russo P, Loguercio M, Lauria F, Barba G, Arnout J, Cappuccio FP et al. Age- and gender-dependent association of the -344C/T polymorphism of CYP11B2 with blood pressure in European populations. J Hum Hypertens 2007; 21: 333–336.

    Article  CAS  Google Scholar 

  7. Heron SE, Sanchez L, Scheffer IE, Berkovic SF, Mulley JC . Association studies and functional validation or functional validation alone? Epilepsy Res 2007; 74: 237–238.

    Article  Google Scholar 

  8. Niu W, Qi Y, Hou S, Zhai X, Zhou W, Qiu C . Haplotype-based association of the renin-angiotensin-aldosterone system genes polymorphisms with essential hypertension among Han Chinese: the Fangshan study. J Hypertens 2009; 27: 1384–1391.

    Article  CAS  Google Scholar 

  9. Sookoian S, Gianotti TF, González CD, Pirola CJ . Association of the C-344T aldosterone synthase gene variant with essential hypertension: a meta-analysis. J Hypertens 2007; 25: 5–13.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

This work was financially supported by the Shanghai “Chen Guang” Project (CG0912), Natural Science Foundation of Shanghai (09ZR1426200 and 08ZR1422000), two items of Excellent Young Teachers Program from Ruijin Hospital and Shanghai City (JDY08025), Science Fund of Shanghai Jiaotong University School of Medicine (09XJ21019), Shanghai Education Committee (09YZ101) and the National Science Foundation for Young Scientists of China (Grant no.: 30900808).

Author information

Author notes

  1. W-Q Niu and S-J Guo: These authors contributed equally to this work.

Authors and Affiliations

  1. State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR China

    W-Q Niu, S-J Guo, Y Zhang, P-J Gao & D-L Zhu

  2. Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR China

    W-Q Niu, S-J Guo, Y Zhang, P-J Gao & D-L Zhu

  3. Shanghai Key Laboratory of Vascular Biology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR China

    W-Q Niu, S-J Guo, Y Zhang & P-J Gao

  4. Sino-French Research Center for Life Science and Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR China

    W-Q Niu, Y Zhang & D-L Zhu

Authors
  1. W-Q Niu
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S-J Guo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Y Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. P-J Gao
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. D-L Zhu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to W-Q Niu or S-J Guo.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Additional information

Supplementary Information accompanies the paper on the Journal of Human Hypertension website

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Niu, WQ., Guo, SJ., Zhang, Y. et al. Genetic and functional analyses of aldosterone synthase gene C-344T polymorphism with essential hypertension. J Hum Hypertens 24, 427–429 (2010). https://doi.org/10.1038/jhh.2010.12

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jhh.2010.12

Search

Advanced search

Quick links