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Genetics and Hypertension: Which Information for Clinical Practice

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Abstract

Essential hypertension is a complex genetic disease determined by multiple biological pathways and influenced by both genetic and environmental factors. The high prevalence of hypertension, with its major impact on morbidity and mortality, results in a significant health and financial burden on the individual and on society. Genetic insights from monogenic syndromes and genome-wide association studies have advanced our understanding of biological pathways underlying interindividual variation in blood pressure. In this chapter, we describe the genetic basis of blood pressure and hypertension with the implications of these in current clinical practice.

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References

  1. Lewington S, Clarke R, Qizilbash N et al (2002) 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 360:1903–1913

    Article  PubMed  Google Scholar 

  2. Pickering GW (1955) The genetic factor in essential hypertension. Ann Intern Med 43:457–464

    PubMed  CAS  Google Scholar 

  3. Oldham PD, Pickering G, Roberts JA et al (1960) The nature of essential hypertension. Lancet 1:1085–1093

    Article  PubMed  CAS  Google Scholar 

  4. Guyton AC, Coleman TG, Fourcade JC et al (1969) Physiologic control of arterial pressure. Bull NY Acad Med 45:811–830

    Google Scholar 

  5. Guyton AC, Coleman TG, Cowley AW Jr et al (1972) Systems analysis of arterial pressure regulation and hypertension. Ann Biomed Eng 1:254–281

    Google Scholar 

  6. Guyton AC, Coleman TG, Granger HJ (1972) Circulation: overall regulation. Annu Rev Physiol 34:13–46

    Google Scholar 

  7. Lifton RP, Gharavi AG, Geller DS (2001) Molecular mechanisms of human hypertension. Cell 104:545–556

    Article  PubMed  CAS  Google Scholar 

  8. Neel JV (1962) Diabetes mellitus: a “thrifty” genotype rendered detrimental by “progress”? Am J Hum Genet 14:353–362

    Google Scholar 

  9. Burt VL, Whelton P, Roccella EJ et al (1995) Prevalence of hypertension in the US adult population. Results from the third national health and nutrition examination survey, 1988–1991. Hypertension 25:305–313

    Article  PubMed  CAS  Google Scholar 

  10. Nakajima T, Wooding S, Sakagami T et al (2004) Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world. Am J Hum Genet 74:898–916

    Article  PubMed  CAS  Google Scholar 

  11. Weder AB (2007) Evolution and hypertension. Hypertension 49:260–265

    Article  PubMed  Google Scholar 

  12. Young JH, Chang YP, Kim JD et al (2005) Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet 1:e82

    Google Scholar 

  13. Brunner HR, Gavras H (1980) Is the renin system necessary? Am J Med 69:739–745

    Article  PubMed  CAS  Google Scholar 

  14. Bochud M, Bovet P, Elston RC et al (2005) High heritability of ambulatory blood pressure in families of East African descent. Hypertension 45:445–450

    Article  PubMed  CAS  Google Scholar 

  15. Havlik RJ, Garrison RJ, Feinleib M et al (1979) Blood pressure aggregation in families. Am J Epidemiol 110:304–312

    PubMed  CAS  Google Scholar 

  16. Hottenga JJ, Boomsma DI, Kupper N et al (2005) Heritability and stability of resting blood pressure. Twin Res Hum Genet 8:499–508

    Article  PubMed  Google Scholar 

  17. Kupper N, Willemsen G, Riese H et al (2005) Heritability of daytime ambulatory blood pressure in an extended twin design. Hypertension 45:80–85

    PubMed  CAS  Google Scholar 

  18. Snieder H, Harshfield GA, Treiber FA (2003) Heritability of blood pressure and hemodynamics in African- and European-American youth. Hypertension 41:1196–1201

    Article  PubMed  CAS  Google Scholar 

  19. Lifton RP, Dluhy RG, Powers M et al (1992) A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355:262–265

    Article  PubMed  CAS  Google Scholar 

  20. Lafferty AR, Torpy DJ, Stowasser M et al (2000) A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). J Med Genet 37:831–835

    Article  PubMed  CAS  Google Scholar 

  21. Cerame BI, New MI (2000) Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. J Pediatr Endocrinol Metab 13:1537–1547

    Article  PubMed  CAS  Google Scholar 

  22. Geller DS, Farhi A, Pinkerton N et al (2000) Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 289:119–123

    Article  PubMed  CAS  Google Scholar 

  23. Rafestin-Oblin ME, Souque A, Bocchi B et al (2003) The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related. Endocrinology 144:528–533

    Article  PubMed  CAS  Google Scholar 

  24. Alikhani-Koopaei R, Fouladkou F, Frey FJ et al (2004) Epigenetic regulation of 11 beta-hydroxysteroid dehydrogenase type 2 expression. J Clin Invest 114:1146–1157

    PubMed  CAS  Google Scholar 

  25. Friso S, Pizzolo F, Choi SW et al (2008) Epigenetic control of 11 beta-hydroxysteroid dehydrogenase 2 gene promoter is related to human hypertension. Atherosclerosis 199:323–327

    Article  PubMed  CAS  Google Scholar 

  26. New MI, Levine LS (1980) Hypertension of childhood with suppressed renin. Endocr Rev 1:421–430

    Article  PubMed  CAS  Google Scholar 

  27. Wilson FH, Disse-Nicodeme S, Choate KA et al (2001) Human hypertension caused by mutations in WNK kinases. Science 293:1107–1112

    Article  PubMed  CAS  Google Scholar 

  28. Hansson JH, Nelson-Williams C, Suzuki H et al (1995) Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet 11:76–82

    Article  PubMed  CAS  Google Scholar 

  29. Shimkets RA, Warnock DG, Bositis CM et al (1994) Liddle’s syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 79:407–414

    Article  PubMed  CAS  Google Scholar 

  30. Ji W, Foo JN, O’Roak BJ et al (2008) Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40:592–599

    Article  PubMed  CAS  Google Scholar 

  31. Welander J, Soderkvist P, Gimm O (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 18:R253–R276

    Article  PubMed  CAS  Google Scholar 

  32. Opocher G, Schiavi F (2010) Genetics of pheochromocytomas and paragangliomas. Best Pract Res Clin Endocrinol Metab 24:943–956

    Article  PubMed  CAS  Google Scholar 

  33. Iacobone M, Schiavi F, Bottussi M et al (2011) Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas? Surgery 150:1194–1201

    Article  PubMed  Google Scholar 

  34. Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273:1516–1517

    Article  PubMed  CAS  Google Scholar 

  35. Koivukoski L, Fisher SA, Kanninen T et al (2004) Meta-analysis of genome-wide scans for hypertension and blood pressure in caucasians shows evidence of susceptibility regions on chromosomes 2 and 3. Hum Mol Genet 13:2325–2332

    Article  PubMed  CAS  Google Scholar 

  36. Barkley RA, Chakravarti A, Cooper RS et al (2004) Positional identification of hypertension susceptibility genes on chromosome 2. Hypertension 43:477–482

    Article  PubMed  CAS  Google Scholar 

  37. Padmanabhan S, Wallace C, Munroe PB et al (2006) Chromosome 2p shows significant linkage to antihypertensive response in the British genetics of hypertension study. Hypertension 47:603–608

    Article  PubMed  CAS  Google Scholar 

  38. Newton-Cheh C, Larson MG, Vasan RS et al (2009) Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. Nat Genet 41:348–353

    Article  PubMed  CAS  Google Scholar 

  39. Newton-Cheh C, Johnson T, Gateva V et al (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 41:666–676

    Article  PubMed  CAS  Google Scholar 

  40. Levy D, Ehret GB, Rice K et al (2009) Genome-wide association study of blood pressure and hypertension. Nat Genet 41:677–687

    Article  PubMed  CAS  Google Scholar 

  41. Ho JE, Levy D, Rose L et al (2011) Discovery and replication of novel blood pressure genetic loci in the women’s genome health study. J Hypertens 29:62–69

    Article  PubMed  CAS  Google Scholar 

  42. Kato N, Takeuchi F, Tabara Y et al (2011) Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in East Asians. Nat Genet 43:531–538

    Article  PubMed  CAS  Google Scholar 

  43. Adeyemo A, Gerry N, Chen G et al (2009) A genome-wide association study of hypertension and blood pressure in African Americans. PLoS Genet 5:e1000564

    Google Scholar 

  44. Fox ER, Young JH, Li Y et al (2011) Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association resource study. Hum Mol Genet 20:2273–2284

    Article  PubMed  CAS  Google Scholar 

  45. Ehret GB, Munroe PB, Rice KM et al (2011) Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478:103–109

    Article  PubMed  CAS  Google Scholar 

  46. Padmanabhan S, Melander O, Johnson T et al (2010) Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet 6:e1001177

    Google Scholar 

  47. Johnson T, Gaunt TR, Newhouse SJ et al (2011) Blood pressure loci identified with a gene-centric array. Am J Hum Genet 89:688–700

    Article  PubMed  CAS  Google Scholar 

  48. Manolio TA, Collins FS, Cox NJ et al (2009) Finding the missing heritability of complex diseases. Nature 461:747–753

    Article  PubMed  CAS  Google Scholar 

  49. Eyre-Walker A (2010) Evolution in health and medicine Sackler Colloquium: genetic architecture of a complex trait and its implications for fitness and genome-wide association studies. Proc Natl Acad Sci U S A 107 Suppl 1:1752–1756

    Google Scholar 

  50. Pritchard JK (2001) Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124–137

    Article  PubMed  CAS  Google Scholar 

  51. Padmanabhan S, Newton-Cheh C, Dominiczak AF (2012) Genetic basis of blood pressure and hypertension. Trends Genet 28:397–408

    Google Scholar 

  52. Dominiczak AF, Munroe PB (2010) Genome-wide association studies will unlock the genetic basis of hypertension: pro side of the argument. Hypertension 56:1017–1020

    Article  PubMed  CAS  Google Scholar 

  53. Kurtz TW (2010) Genome-wide association studies will unlock the genetic basis of hypertension.: con side of the argument. Hypertension 56:1021–1025

    Article  PubMed  CAS  Google Scholar 

  54. Cirulli ET, Goldstein DB (2010) Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11:415–425

    Article  PubMed  CAS  Google Scholar 

  55. Gerszten RE, Wang TJ (2008) The search for new cardiovascular biomarkers. Nature 451:949–952

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK

    Sandosh Padmanabhan

  2. Regius Chair of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK

    Anna F. Dominiczak

Authors
  1. Sandosh Padmanabhan
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  2. Anna F. Dominiczak
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Corresponding author

Correspondence to Anna F. Dominiczak .

Editor information

Editors and Affiliations

  1. , Internal Medicine, American University of Beirut Medical Ce, Riad El Solh, Beirut, 1107-2020, Lebanon

    Adel E. Berbari

  2. Clinica Medica, Ospedale S. Gerardo, Università di Milano-Bicocca, V .Donizetti 106, Milano, Monza, 20133, Italy

    Giuseppe Mancia

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Padmanabhan, S., Dominiczak, A.F. (2012). Genetics and Hypertension: Which Information for Clinical Practice. In: Berbari, A., Mancia, G. (eds) Special Issues in Hypertension. Springer, Milano. https://doi.org/10.1007/978-88-470-2601-8_33

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  • DOI: https://doi.org/10.1007/978-88-470-2601-8_33

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  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-2600-1

  • Online ISBN: 978-88-470-2601-8

  • eBook Packages: MedicineMedicine (R0)

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