Skip to main content
SpringerLink
Log in

Recent Advances in the Genetics of Hypertension

  • Chapter
Hypertension: from basic research to clinical practice

Part of the book series: Advances in Experimental Medicine and Biology ((AIM,volume 956))

Abstract

Hypertension is a silent killer worldwide, caused by both genetic and environmental factors. Until now, genetic and genomic association studies of hypertension are reporting different degree of association on hypertension. Hence, it is essential to gather all the available information on the reported genetic loci and to determine if any biomarker(s) is/are significantly associated with hypertension. Current review concluded the potential biomarkers for hypertension, with regards to electrolyte and fluid transports, as well as sodium/potassium ions homeostasis, which are supported by the results of case-controls and meta-analyses.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

BP:

Blood pressure

SBP:

Systolic blood pressure

DBP:

Diastolic blood pressure

SNP:

Single nucleotide polymorphism

RAS:

Renin-angiotensin-aldosterone system

REN:

Renin

AGT:

Angiotensinogen

Ang II:

Angiotensin II

ACE:

Angiotensin-converting enzyme

AGTR1:

Angiotensin II type I receptor

AGTR2:

Angiotensin II type 2 receptor

CYP11B2:

Aldosterone synthase

ECE-1/ECE-2:

Endothelin converting enzyme 1/2

EDN1/EDN2:

Endothelin 1/2

EDNRA/ENDRBB:

Endothelin receptor A/B

eNOS:

Endothelial nitric oxide synthase

ApoB/ApoC/ApoE:

Apolipoprotein B/C/E

LPL:

Lipoprotein lipase

VLDL:

Very low density lipoprotein

ENaC:

Epithelial sodium channel

SCNN1A/SCNN1B/SCNN1G:

Sodium channel non voltage gated 1 alpha subunit/beta subunit/gamma subunit

TSC:

Thiazide sensitive Na+Cl- cotransporter

ATP1A2:

ATPase, Na+/K+ transporting, alpha 2 polypeptide

ATP1B1:

ATPase, Ca++ transporting, plasma membrane 1

ADD:

Alpha-adducin

NEDD4L:

Neural precursor cell expressed developmentally downregulated gene 4-like

SNS:

Sympathetic nervous system

ADRB1:

β1-adrenergic receptor

ADRB2:

β2-adrenergic receptor

cAMP:

Cyclic adenosine monophosphate

IGF-1:

Insulin-like growth factor 1

IGF-1R:

Insulin-like growth factor 1 receptor

GWAS:

Genome-wide association studies

WTCCC:

Wellcome Trust Case control consortium

RYR2:

Ryanodine receptor 2

WNK1:

WNK lysine Deficient Protein Kinase 1

UMOD:

Uromodulin

PMS1:

Post-meiotic segregation increased 1

SLC24A4:

Solute carrier family 24 member 4

YWHAZ:

Tyrosine 3-monooxygenaseltrytophan 5-monooxygenase activation protein, zeta polypeptide

IPO7:

Importin 7

P4HA2:

Prolyl 4-hydroxylase, alpha polypeptide II

CHARGE:

Cohorts for Heart and Aging Research in Genome Epidemiology

ICBP:

International Consortium for Blood pressure

NPR3-C5orf23:

Natriuretic peptide receptor 3-chromosome 5 open reading frame 23

HFE:

Human hemochromatosis protein

BAT2-BAT5:

HLA-B associated transcript 2-HLA-B associated transcript 5

PLCE1:

Phospholipase C epsilon 1

FLJ32810-TMEM133:

rho-type guanosine triphosphate activating protein-transmembrane gene 133

GNAS-EDN3:

Guanine nucleotide-binding protein alpha stimulating activity polypeptide 1-endothelin 3

MTHFR-NPPB:

Methylenetetrahydrofolate reductase-natriuretic peptide B

CACNB2:

Calcium channel voltage dependent beta 2 subunit

C10orf107:

Chromosome 10 open reading frame 107

CYP1A1-ULK3:

Cytochrome P450 family 1 subfamily A polypeptide-unc 51 like kinase 3

ANP:

Natriuretic peptides encompass atrial natriuretic peptide

BNP:

Brain-natriuretic peptide

CNP:

C-type natriuretic peptide

INVEST-GENES:

International Verapamil SR-Trandolapril Study Genetic Substudy

References

  • Abou-Saleh H, Pathan AR, Daalis A, Hubrack S, Abou-Jassoum H, Al-Naeimi H et al (2013) Inositol 1, 4, 5-trisphosphate (IP3) receptor up-regulation in hypertension is associated with sensitization of Ca2+ release and vascular smooth muscle contractility. J Biol Chem 288(46):32941–32951

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H et al (2009) A genome-wide association study of hypertension and blood pressure in African Americans. PLoS Genet 5(7):e1000564–e1000575

    Article  PubMed  PubMed Central  Google Scholar 

  • Alfakih K, Maqbool A, Sivananthan M, Walters K, Bainbridge G, Ridgway J et al (2004) Left ventricle mass index and the common, functional, X-linked angiotensin II type-2 receptor gene polymorphism (−1332 G/A) in patients with systemic hypertension. Hypertension 43(6):1189–1194

    Article  CAS  PubMed  Google Scholar 

  • Annapareddy SNR, Kumbakonam VS, Elumalai R, Ramanathan G, Periyasamy S, Lakkakula BVKS (2016) ECE1 gene variant shows tendency toward chronic kidney disease advancement among autosomal polycystic kidney disease patients. Hong Kong J Nephrol 18:20–25

    Article  Google Scholar 

  • Atlas SA (2007) The renin-angiotensin aldosterone system: pathophysiological role and pharmacologic inhibition. J Manag Care Pharm 13(8 Supp B):9–20

    PubMed  Google Scholar 

  • Au A, Griffiths LR, Cheng K-K, Kooi CW, Irene L, Wei LK (2015) The influence of OLR1 and PCSK9 gene polymorphisms on ischemic stroke: evidence from a meta-analysis. Sci Rep 5:18224. doi:10.1038/srep18224

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brini M, Carafoli E (2011) The plasma membrane Ca2+ ATPase and the plasma membrane sodium calcium exchanger cooperate in the regulation of cell calcium. Cold Spring Harb Perspect Biol 3(2):a004168–a004185

    Article  PubMed  PubMed Central  Google Scholar 

  • Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A et al (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447(7145):661–678

    Article  CAS  Google Scholar 

  • Bush WS, Moore JH (2012) Genome-wide association studies. PLoS Comput Biol 8(12):e1002822–e1002833

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Caprioli J, Mele C, Mossali C, Gallizioli L, Giacchetti G, Noris M et al (2008) Polymorphisms of EDNRB, ATG, and ACE genes in salt-sensitive hypertension. Can J Physiol Pharmacol 86(8):505–510

    Article  CAS  PubMed  Google Scholar 

  • Carstens N, van der Merwe L, Revera M, Heradien M, Goosen A, Brink PA et al (2010) Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure. J Renin Angiotensin Aldosterone Syst 12(3):274–280

    Article  PubMed  Google Scholar 

  • Cat AND, Montezano AC, Touyz RM (2013) Renin–angiotensin–aldosterone system: new concepts. Hypertension 84–100

    Google Scholar 

  • Chang Y-PC, Liu X, Kim JDO, Ikeda MA, Layton MR, Weder AB et al (2007) Multiple genes for essential-hypertension susceptibility on chromosome 1q. Am J Hum Genet 80(2):253–264

    Article  CAS  PubMed  Google Scholar 

  • Chobanian AV, Bakris GL, Black HR, Cushman WC, Green LA, Izzo JL et al. (2003) The seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure (JNC 7). JAMA 289(19):2560–2571.

    Article  CAS  PubMed  Google Scholar 

  • Das B, Pawar N, Saini D, Seshadri M (2009) Genetic association study of selected candidate genes (ApoB, LPL, Leptin) and telomere length in obese and hypertensive individuals. BMC Med Genet 10(1):99–112

    Article  PubMed  PubMed Central  Google Scholar 

  • Dhawan V, Sharma I, Mahajan N, Sangwan SM, Jain S (2014) Implication of endothelin-2 and oxidative stress biomarkers in essential hypertension. J Hypertens 3(170):1095–2167

    Google Scholar 

  • Dimke H, San-Cristobal P, de Graaf M, Lenders JW, Deinum J, Hoenderop JGJ et al (2011) γ-Adducin stimulates the thiazide-sensitive NaCl cotransporter. J Am Soc Nephrol 22(3):508–517

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ehret GB (2010) Genome-wide association studies: contribution of genomics to understanding blood pressure and essential hypertension. Curr Hypertens Rep 12(1):17–25

    Article  PubMed  PubMed Central  Google Scholar 

  • Fang YJ, Deng HB, Thomas GN, Tzang CH, Li CX, Xu ZL et al (2010) Linkage of angiotensinogen gene polymorphisms with hypertension in a sibling study of Hong Kong Chinese. J Hypertens 28(6):1203–1209

    CAS  PubMed  PubMed Central  Google Scholar 

  • Faruque MU, Chen G, Doumatey A, Huang H, Zhou J, Dunston GM et al (2011) Association of ATP1B1, RGS5 and SELE polymorphisms with hypertension and blood pressure in African-Americans. J Hypertens 29(10):1906–1912

    Article  CAS  PubMed  Google Scholar 

  • Fava C, Von Wowern F, Berglund G, Carlson J, Hedblad B, Rosberg L et al (2006) 24-h ambulatory blood pressure is linked to chromosome 18q21-22 and genetic variation of NEDD4L associates with cross-sectional and longitudinal blood pressure in Swedes. Kidney Int 70(3):562–569

    Article  CAS  PubMed  Google Scholar 

  • Fayyad HAR, Aziz IH (2015) Genetic polymorphism of angiotensinogen gene in high blood pressure. World J Pharm Pharm Sci 4(10):1910–1917

    Google Scholar 

  • Fedorowski A, Franceschini N, Brody J, Liu C, Verwoert GC, Boerwinkle E et al (2012) Orthostatic hypotension and novel blood pressure-associated gene variants: genetics of Postural Hemodynamics (GPH) Consortium. Eur Heart J 33(18):2331–2341

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Förstermann U, Münzel T (2006) Endothelial nitric oxide synthase in vascular disease: from marvel to menace. Circulation 113(13):1708–1714

    Article  PubMed  Google Scholar 

  • Fox ER, Young JH, Li Y, Dreisbach AW, Keating BJ, Musani SK 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(11):2273–2284

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fujita T (2014) Mechanism of salt-sensitive hypertension: focus on adrenal and sympathetic nervous systems. J Am Soc Nephrol 25(6):1148–1155

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Galati F, Galati A, Massari S (2016) RyR2 QQ2958 genotype and risk of malignant ventricular arrhythmias. Cardiol Res Pract 2016, Available from: http://dx.doi.org/10.1155/2016/2868604

  • Ghattas M, Badawy H, Mesbah N, Abo-Elmatty D (2013) Apolipoprotein CIII3238C/G gene polymorphism influences oxidized low-density lipoprotein with a risk of essential hypertension. J Biochem Pharmacol Res 1(3):143–147

    Google Scholar 

  • Gibson G (2012) Rare and common variants: twenty arguments. Nat Rev Genet 13(2):135–145

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Harrison-Bernard LM (2009) The renal renin-angiotensin system. Adv Physiol Educ 33(4):270–274

    Article  PubMed  Google Scholar 

  • Higashi Y, Sukhanov S, Anwar A, Shai S-Y, Delafontaine P (2012) Aging, atherosclerosis, and IGF-1. J Gerontol A Biol Sci Med Sci 67(6):626–639

    Article  PubMed  Google Scholar 

  • Hong GL, Chen XZ, Liu Y, Liu YH, Fu X, Lin SB et al (2013) Genetic variations in MOV10 and CACNB2 are associated with hypertension in a Chinese Han population. Genet Mol Res 12(4):6220–6227

    Article  CAS  PubMed  Google Scholar 

  • Horio T, Kamide K, Takiuchi S, Yoshii M, Miwa Y, Matayoshi T et al (2010) Association of insulin-like growth factor-1 receptor gene polymorphisms with left ventricular mass and geometry in essential hypertension. J Hum Hypertens 24(5):320–326

    Article  CAS  PubMed  Google Scholar 

  • Huber M, Völler H, Jakob S, Reibis R, Do V, Bolbrinker J et al (2010) Role of the angiotensin II type 2 receptor gene (+1675G/A) polymorphism on left ventricular hypertrophy and geometry in treated hypertensive patients. J Hypertens 28(6):1221–1229

    Article  CAS  PubMed  Google Scholar 

  • Iglarz M, Benessiano J, Philip I, Vuillaumier-Barrot S, Lasocki S, Hvass U et al (2002) Preproendothelin-1 gene polymorphism is related to a change in vascular reactivity in the human mammary artery in vitro. Hypertension 39(2):209–213

    Article  CAS  PubMed  Google Scholar 

  • International Consortium for Blood Pressure Genome-Wide Association Studies (2011) Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478(7367):103–109

    Article  Google Scholar 

  • Iwai N, Baba S, Mannami T, Katsuya T, Higaki J, Ogihara T et al (2001) Association of sodium channel γ-subunit promoter variant with blood pressure. Hypertension 38(1):86–89

    Article  CAS  PubMed  Google Scholar 

  • Iwai N, Baba S, Mannami T, Ogihara T, Ogata J (2002) Association of a sodium channel α subunit promoter variant with blood pressure. J Am Soc Nephrol 13(1):80–85

    CAS  PubMed  Google Scholar 

  • Jin HS, Hong KW, Lim JE, Oh B (2011) Replication of an African-American GWAS on blood pressure and hypertension in the Korean population. Genes Genomics 33(2):127–132

    Article  Google Scholar 

  • Johnson T, Gaunt TR, Newhouse SJ, Padmanabhan S, Tomaszewski M, Kumari M et al (2011a) Blood pressure loci identified with a gene-centric array. Am J Hum Genet 89(6):688–700

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Johnson AD, Newton-Cheh C, Chasman DI, Ehret GB, Johnson T, Rose L et al (2011b) Association of hypertension drug target genes with blood pressure and hypertension in 86588 individuals. Hypertension 57(5):903–910

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Juhola J, Oikonen M, Magnussen CG, Mikkilä V, Siitonen N, Jokinen E et al (2012) Childhood physical, environmental and genetic predictors of adult hypertension: the cardiovascular risk in young Finns study. Circulation 126(4):402–409

    Article  PubMed  Google Scholar 

  • Kato N, Miyata T, Tabara Y, Katsuya T, Yanai K, Hanada H et al (2008) High-density association study and nomination of susceptibility genes for hypertension in the Japanese National Project. Hum Mol Genet 17(4):617–627

    Article  CAS  PubMed  Google Scholar 

  • Kato N, Takeuchi F, Tabara Y, Kelly TN, Go MJ, Sim X et al (2011) Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. Nat Genet 43(6):531–538

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Keszei AP, Tisler A, Backx PH, Andrulis IL, Bull SB, Logan AG (2007) Molecular variants of the thiazide-sensitive Na+−Cl- cotransporter in hypertensive families. J Hypertens 25(10):2074–2081

    Google Scholar 

  • Kidambi S, Ghosh S, Kotchen JM, Grim CE, Krishnaswami S, Kaldunski ML et al (2012) Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans. BMC Med Genet 13(1):27–35

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kim JY, Park JB, Kim DS, Kim KS, Jeong JW, Park JC et al (2014) Gender difference in arterial stiffness in a multicenter cross-sectional study: the Korean Arterial Aging Study (KAAS). Pulse 2(1-4):11–17

    Article  PubMed  PubMed Central  Google Scholar 

  • Kremastinos DT, Farmakis D (2011) Iron overload cardiomyopathy in clinical practice. Circulation 124(20):2253–2263

    Article  PubMed  Google Scholar 

  • Kuo M-L, Lee MB-E, Tang M, den Besten W, Hu S, Sweredoski MJ et al (2016) PYCR1 and PYCR2 interact and collaborate with RRM2B to protect cells from overt oxidative stress. Sci Rep 6:18846. doi:10.1038/srep18846

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lacolley P, Challande P, Osborne-Pellegrin M, Regnault V (2009) Genetics and pathophysiology of arterial stiffness. Cardiovasc Res 81(4):637–648

    Article  CAS  PubMed  Google Scholar 

  • Lajemi M, Labat C, Gautier S, Lacolley P, Safar M, Asmar R et al (2001) Angiotensin II type 1 receptor − 153A/G and 1166A/C gene polymorphisms and increase in aortic stiffness with age in hypertensive subjects. J Hypertens 19(3):407–413

    Article  CAS  PubMed  Google Scholar 

  • Lardjam-Hetraf SA, Mediene-Benchekor S, Ouhaibi-Djellouli H, Meroufel DN, Boulenouar H, Hermant X et al (2015) Effects of established blood pressure loci on blood pressure values and hypertension risk in an Algerian population sample. J Hum Hypertens 29(5):296–302

    Article  CAS  PubMed  Google Scholar 

  • Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A et al (2009) Genome-wide association study of blood pressure and hypertension. Nat Genet 41(6):677–687

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ling L, Maguire JJ, Davenport AP (2013) Endothelin‐2, the forgotten isoform: emerging role in the cardiovascular system, ovarian development, immunology and cancer. Br J Pharmacol 168(2):283–295

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ljungberg LU, De Basso R, Alehagen U, Björck HM, Persson K, Dahlström U et al (2011) Impaired abdominal aortic wall integrity in elderly men carrying the angiotensin-converting enzyme D allele. Eur J Vasc Endovasc Surg 42(3):309–316

    Article  CAS  PubMed  Google Scholar 

  • Ludwiczek S, Theurl I, Muckenthaler MU, Jakab M, Mair SM, Theurl M et al (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1. Nat Med 13(4):448–454

    Article  CAS  PubMed  Google Scholar 

  • Luo F, Wang Y, Wang X, Sun K, Zhou X, Hui R (2009) A functional variant of NEDD4L is associated with hypertension, antihypertensive response, and orthostatic hypotension. Hypertension 54(4):796–801

    Article  CAS  PubMed  Google Scholar 

  • Manning J, Beutler K, Knepper MA, Vehaskari VM (2002) Upregulation of renal BSC1 and TSC in prenatally programmed hypertension. Am J Physiol Renal Physiol 283(1):F202–F206

    Article  CAS  PubMed  Google Scholar 

  • Matsubara M, Sato T, Nishimura T, Suzuki M, Kikuya M, Metoki H et al (2004) CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: the Ohasama study. Hypertens Res 27(1):1–6

    Article  CAS  PubMed  Google Scholar 

  • Mishra A, Srivastava A, Mittal T, Garg N, Mittal B (2012) Impact of renin-angiotensin-aldosterone system gene polymorphisms on left ventricular dysfunction in coronary artery disease patients. Dis Markers 32(1):33–41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Miyaki K, Htun NC, Song Y, Ikeda S, Muramatsu M, Shimbo T (2012) The combined impact of 12 common variants on hypertension in Japanese men, considering GWAS results. J Hum Hypertens 26(7):430–436

    Article  CAS  PubMed  Google Scholar 

  • Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, Cushman M et al (2016) Heart disease and stroke statistics-2016 update a report from the American Heart Association. Circulation 133:e38–e360

    Article  PubMed  Google Scholar 

  • Muñoz-Barrios S, Guzmán-Guzmán IP, Muñoz-Valle JF, Salgado-Bernabé AB, Salgado-Goytia L, Parra-Rojas I (2012) Association of the HindIII and S447X polymorphisms in LPL gene with hypertension and type 2 diabetes in Mexican families. Dis Markers 33(6):313–320

    Article  PubMed  PubMed Central  Google Scholar 

  • Newhouse SJ, Wallace C, Dobson R, Mein C, Pembroke J, Farrall M et al (2005) Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study. Hum Mol Genet 14(13):1805–1814

    Article  CAS  PubMed  Google Scholar 

  • Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L et al (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 41(6):666–676

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Nie SJ, Wen-Ru T, Bi-Feng C, Jin L, Wen Z, Sheng-Jun L et al (2010) Haplotype-based case-control study of the human AGTR1 gene and essential hypertension in Han Chinese subjects. Clin Biochem 43(3):253–258

    Article  CAS  PubMed  Google Scholar 

  • Org E, Eyheramendy S, Juhanson P, Gieger C, Lichtner P, Klopp N et al (2009) Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations. Hum Mol Genet 18(12):2288–2296

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Padmanabhan S, Melander O, Johnson T, Di Blasio AM, Lee WK, Gentilini D et al (2010) Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet 6(10):e1001177–e1001188

    Article  PubMed  PubMed Central  Google Scholar 

  • Panoulas VF, Douglas KMJ, Smith JP, Taffé P, Stavropoulos-Kalinoglou A, Toms TE et al (2008) Polymorphisms of the endothelin-1 gene associate with hypertension in patients with rheumatoid arthritis. Endothelium 15(4):203–212

    Article  CAS  PubMed  Google Scholar 

  • Paternoster L, González NAM, Lewis S, Sudlow C (2008) Association between apolipoprotein E genotype and carotid intima-media thickness may suggest a specific effect on large artery atherothrombotic stroke. Stroke 39(1):48–54

    Article  PubMed  Google Scholar 

  • Patkar S, Charita BH, Ramesh C, Padma T (2009) High risk of essential hypertension in males with intron 4 VNTR polymorphism of eNOS gene. Indian J Hum Genet 15(2):49–53

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Penesova A, Cizmarova E, Kvetnansky R, Koska J, Sedlakova B, Krizanova O (2006) Insertion/deletion polymorphism on ACE gene is associated with endothelial dysfunction in young patients with hypertension. Horm Metab Res 38(9):592–597.

    Article  CAS  PubMed  Google Scholar 

  • Pereira NL, Lin D, Pelleymounter L, Moon I, Stilling G, Eckloff BW et al (2013) Natriuretic peptide receptor-3 gene (NPR3) nonsynonymous polymorphism results in significant reduction in protein expression because of accelerated degradation. Circ Cardiovasc Genet 6(2):201–210

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rahman T, Baker M, Hall DH, Avery PJ, Keavney B (2008) Common genetic variation in the type A endothelin-1 receptor is associated with ambulatory blood pressure: a family study. J Hum Hypertens 22(4):282–288

    Article  CAS  PubMed  Google Scholar 

  • Rossi A, Baldo-Enzi G, Ganzaroli C, Coscetti G, Calabrò A, Baiocchi MR et al (2001) Relationship of early carotid artery disease with lipoprotein (a), apolipoprotein B, and fibrinogen in asymptomatic essential hypertensive patients and normotensive subjects. J Investig Med 49(6):505–513

    Article  CAS  PubMed  Google Scholar 

  • Russo CJ, Melista E, Cui J, DeStefano AL, Bakris GL, Manolis AJ et al (2005) Association of NEDD4L ubiquitin ligase with essential hypertension. Hypertension 46(3):488–491

    Article  CAS  PubMed  Google Scholar 

  • Salah A, Khan M, Esmail N, Habibullah S, Al LY (2009) Genetic polymorphism of S447X lipoprotein lipase (LPL) and the susceptibility to hypertension. J Crit Care 24(3):e11–e14

    Article  PubMed  Google Scholar 

  • Seidlerová J, Staessen JA, Bochud M, Nawrot T, Casamassima N, Citterio L et al (2009) Arterial properties in relation to genetic variations in the adducin subunits in a white population. Am J Hypertens 22(1):21–26

    Article  PubMed  Google Scholar 

  • Sethi AA, Nordestgaard BG, Tybjærg-Hansen A (2003) Angiotensinogen gene polymorphism, plasma angiotensinogen, and risk of hypertension and ischemic heart disease a meta-analysis. Arterioscler Thromb Vasc Biol 23(7):1269–1275

    Article  CAS  PubMed  Google Scholar 

  • Shimamoto K, Ando K, Fujita T, Hasebe N, Higaki J, Horiuchi M et al (2014) The Japanese Society of Hypertension guidelines for the management of hypertension. Hypertens Res 37:253–392

    Article  PubMed  Google Scholar 

  • Snyder EM, Johnson BD, Joyner MJ (2008) Genetics of β2-adrenergic receptors and the cardiopulmonary response to exercise. Exerc Sport Sci Rev 36(2):98–105

    Article  PubMed  PubMed Central  Google Scholar 

  • Song W, Wang H, Wu Q (2015) Atrial natriuretic peptide in cardiovascular biology and disease (NPPA). Gene 569(1):1–6

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Soualmia H (2012) Candidate genes in hypertension. In: Khullar M (ed) Genetics and pathophysiology of essential hypertension, 1st edn. InTech, Rijeka, pp 139–168

    Google Scholar 

  • Soudani NY, Fakhoury RM, Kaissi SS, Zgheib NK (2014) The role of genetic polymorphisms in endothelial nitric oxide synthase and beta2-adrenergic receptors with risk of hypertension in a sample of Lebanese people. Saudi Med J 35(3):255–260

    PubMed  Google Scholar 

  • Sun B, Williams JS, Pojoga L, Chamarthi B, Lasky-Su J, Raby BA et al (2011) Renin gene polymorphism: its relationship to hypertension, renin levels and vascular responses. J Renin Angiotensin Aldosterone Syst 12(4):564–571

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Tabara Y, Kohara K, Kita Y, Hirawa N, Katsuya T, Ohkubo T et al (2010) Common Variants in the ATP2B1 Gene Are Associated With Susceptibility to Hypertension The Japanese Millennium Genome Project. Hypertension 56(5):973–980

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T et al (2010) Blood pressure and hypertension are associated with 7 loci in the Japanese population. Circulation 121(21):2302–2309

    Article  PubMed  Google Scholar 

  • Tang W, Yang Y, Wang B, Xiao C (2008a) Association between a G894T polymorphism of eNOS gene and essential hypertension in Hani and Yi minority groups of China. Arch Med Res 39(2):222–225

    Article  CAS  PubMed  Google Scholar 

  • Tang M, Dai Y, Huang Y, Cai X, Tian X, Tu Z (2008b) The univariation and multiple linear regression analyses for seventeen SNPs in thirteen cardiovascular disease-predisposing genes and blood pressure in Chinese Han males. Clin Exp Hypertens 30(7):648–661

    Article  CAS  PubMed  Google Scholar 

  • Tikhonoff V, Kuznetsova T, Stolarz K, Bianchi G, Casiglia E, Kawecka-Jaszcz K et al (2003) Blood pressure phenotypes in relation to the β-adducin C1797T polymorphism in the European Project on Genes in Hypertension (EPOGH). Blood Press Monit 8(4):151–154

    Article  PubMed  Google Scholar 

  • Tomaszewski M, Debiec R, Braund PS, Nelson CP, Hardwick R, Christofidou P et al (2010) Genetic architecture of ambulatory blood pressure in the general population insights from cardiovascular gene-centric array. Hypertension 56(6):1069–1076

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Trott DW, Harrison DG (2014) The immune system in hypertension. Adv Physiol Educ 38(1):20–24

    Article  PubMed  PubMed Central  Google Scholar 

  • Valdenaire O, Lepailleur‐Enouf D, Egidy G, Thouard A, Barret A, Vranckx R et al (1999) A fourth isoform of endothelin‐converting enzyme (ECE‐1) is generated from an additional promoter. Eur J Biochem 264(2):341–349

    Article  CAS  PubMed  Google Scholar 

  • Vangjeli C, Clarke N, Quinn U, Dicker P, Tighe O, Ho C et al (2010) Confirmation that the renin gene distal enhancer polymorphism REN-5312C/T is associated with increased blood pressure. Circ Cardiovasc Genet 3(1):53–59

    Article  CAS  PubMed  Google Scholar 

  • Wang Y, O’Connell JR, McArdle PF, Wade JB, Dorff SE, Shah SJ et al (2009) Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci 106(1):226–231

    Article  CAS  PubMed  Google Scholar 

  • Wei LK, Menon S, Griffiths LR, Gan SH (2015a) Signaling pathway genes for blood pressure, folate and cholesterol levels among hypertensives: an epistasis analysis. J Hum Hypertens 29(2):99–104

    Article  CAS  PubMed  Google Scholar 

  • Wei LK, Au A, Menon S, Gan SH, Griffiths LR (2015b) Clinical Relevance of MTHFR, eNOS, ACE, and ApoE Gene Polymorphisms and Serum Vitamin Profile among Malay Patients with Ischemic Stroke. J Stroke Cerebrovasc 9:2017–2025

    Google Scholar 

  • Xi B, Tang W, Wang Q (2012) Polymorphism near the ATP2B1 gene is associated with hypertension risk in East Asians: a meta-analysis involving 15909 cases and 18529 controls. Blood Press 21(2):134–138

    Article  CAS  PubMed  Google Scholar 

  • Xi B, Shen Y, Zhao X, Chandak GR, Cheng H, Hou D et al (2014) Association of common variants in/near six genes (ATP2B1, CSK, MTHFR, CYP17A1, STK39 and FGF5) with blood pressure/hypertension risk in Chinese children. J Hun Hypertens 28(1):32–36

    Article  CAS  Google Scholar 

  • Xiao B, Zhang Y, Niu W, Gao P, Zhu D (2009) Association of ATP1B1 single-nucleotide polymorphisms with blood pressure and hypertension in a Chinese population. Clin Chim Acta 407(1):47–50

    Article  CAS  PubMed  Google Scholar 

  • Yang H-C, Liang Y-J, Wu Y-L, Chung C-M, Chiang K-M, Ho H-Y et al (2009) Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan. PLoS ONE 4(5):e5459–e5470

    Article  PubMed  PubMed Central  Google Scholar 

  • Yang X, He J, Gu D, Hixson JE, Huang J, Rao DC et al (2014) Associations of epithelial sodium channel genes with blood pressure changes and hypertension incidence: the GenSalt study. Am J Hypertens 27(11):1370–1376

    Article  PubMed  PubMed Central  Google Scholar 

  • Yan-yan L (2011) Endothelial nitric oxide synthase G894T gene polymorphism and essential hypertension in the Chinese population: a meta-analysis involving 11,248 subjects. Intern Med 50(19):2099–2106

    Article  Google Scholar 

  • Zafarmand MH, van der Schouw YT, Grobbee DE, de Leeuw PW, Bots ML (2008) α-adducin Gly460Trp variant increases the risk of stroke in hypertensive Dutch women. Hypertension 51(6):1665–1670

    Article  CAS  PubMed  Google Scholar 

  • Zhang A, Huang S (2012) Progress in pathogenesis of proteinuria. Int J Nephrol 2012, Available from: http://dx.doi.org/10.1155/2012/314251

Download references

Acknowledgement

We acknowledge the financial support from a Fundamental Research Grant Scheme (FRGS/1/2015/SKK08/UTAR/02/3).

Author information

Authors and Affiliations

  1. Department of Biological Science, Faculty of Science, Universiti Tunku Abdul Rahman, Bandar Barat, 31900, Kampar, Perak, Malaysia

    Loo Keat Wei

  2. Institute of Bioproduct Development and Department of Bioprocess Engineering, Faculty of Chemical Engineering, Universiti Teknologi Malaysia, 81300, Skudai, Malaysia

    Anthony Au

  3. Department of Biomedical Science, Faculty of Science, Universiti Tunku Abdul Rahman, Jalan Universiti, Bandar Barat, 31900, Kampar, Perak, Malaysia

    Lai Kuan Teh

  4. Department of Agricultural and Food Science, Faculty of Science, Universiti Tunku Abdul Rahman, Jalan Universiti, Bandar Barat, 31900, Kampar, Perak, Malaysia

    Huey Shi Lye

Authors
  1. Loo Keat Wei
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anthony Au
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Lai Kuan Teh
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Huey Shi Lye
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Loo Keat Wei .

Editor information

Editors and Affiliations

  1. Department of Clinical Science and Education Södersjukhuset, Karolinska Institutet, Stockholm, Sweden

    Md. Shahidul Islam

  2. Department of Internal Medicine and Emergency Medicine, Uppsala University Hospital, Uppsala, Sweden

    Md. Shahidul Islam

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer International Publishing AG

About this chapter

Cite this chapter

Wei, L.K., Au, A., Teh, L.K., Lye, H.S. (2016). Recent Advances in the Genetics of Hypertension. In: Islam, M.S. (eds) Hypertension: from basic research to clinical practice. Advances in Experimental Medicine and Biology(), vol 956. Springer, Cham. https://doi.org/10.1007/5584_2016_75

Download citation

  • DOI: https://doi.org/10.1007/5584_2016_75

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-44250-1

  • Online ISBN: 978-3-319-44251-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation