Genetic basis of blood pressure and hypertension

Trends in Genetics

Volumn 28, Issue 8, 2012, Pages 397-408

  Padmanabhan, Sandosh ^a   Newton Cheh, Christopher ^b   Dominiczak, Anna F ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

Artery; Blood pressure; Genetics; Hypertension; Kidney; Sodium

Indexed keywords

BLOOD PRESSURE; EPIGENETICS; ESSENTIAL HYPERTENSION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC VARIABILITY; HEREDITY; HUMAN; HYPERTENSION; MORTALITY; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT;

ANIMALS; BLOOD PRESSURE; EPIGENESIS, GENETIC; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYPERTENSION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84863869708     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2012.04.001     Document Type: Review

References (69)

1. Evans J.G., Rose G. Hypertension. Br. Med. Bull. 1971, 27:37-42.
2. Kearney P.M., et al. Global burden of hypertension: analysis of worldwide data. Lancet 2005, 365:217-223.
3. Hottenga J.J., et al. Heritability and stability of resting blood pressure. Twin Res. Hum. Genet. 2005, 8:499-508.
4. Kupper N., et al. Heritability of daytime ambulatory blood pressure in an extended twin design. Hypertension 2005, 45:80-85.
5. Padmanabhan S., et al. Hypertension and genome-wide association studies: combining high fidelity phenotyping and hypercontrols. J. Hypertens. 2008, 26:1275-1281.
6. Ehret G.B., et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011, 478:103-109.
7. Johnson T., et al. Blood pressure loci identified with a gene-centric array. Am. J. Hum. Genet. 2011, 89:688-700.
8. Kato N., et al. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in East Asians. Nat. Genet. 2011, 43:531-538.
9. Levy D., et al. Genome-wide association study of blood pressure and hypertension. Nat. Genet. 2009, 41:677-687.
10. Newton-Cheh C., et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat. Genet. 2009, 41:666-676.
11. Padmanabhan S., et al. Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet. 2010, 6:e1001177.
12. Salvi E., et al. Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Hypertension 2012, 59:248-255.
13. Dominiczak A.F., Munroe P.B. Genome-wide association studies will unlock the genetic basis of hypertension: pro side of the argument. Hypertension 2010, 56:1017-1020.
14. Kurtz T.W. Genome-wide association studies will unlock the genetic basis of hypertension: con side of the argument. Hypertension 2010, 56:1021-1025.
15. Gudbjartsson D.F., et al. Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. PLoS Genet. 2010, 6:e1001039.
16. Kottgen A., et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat. Genet. 2009, 41:712-717.
17. Gudbjartsson D.F., et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat. Genet. 2009, 41:342-347.
18. Schunkert H., et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat. Genet. 2011, 43:333-338.
19. Stahl E.A., et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat. Genet. 2010, 42:508-514.
20. Dubois P.C., et al. Multiple common variants for celiac disease influencing immune gene expression. Nat. Genet. 2010, 42:295-302.
21. Ganesh S.K., et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat. Genet. 2009, 41:1191-1198.
22. Ikram M.K., et al. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet. 2010, 6:e1001184.
23. Teslovich T.M., et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010, 466:707-713.
24. Wain L.V., et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat. Genet. 2011, 43:1005-1011.
25. Pichler I., et al. Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum. Mol. Genet. 2011, 20:1232-1240.
26. Chambers J.C., et al. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat. Genet. 2009, 41:1170-1172.
27. Coronary Artery Disease (C4D) Genetics Consortium A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat. Genet. 2011, 43:339-344.
28. Ripke S., et al. Genome-wide association study identifies five new schizophrenia loci. Nat. Genet. 2011, 43:969-976.
29. Simon-Sanchez J., et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat. Genet. 2009, 41:1308-1312.
30. Yasuno K., et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat. Genet. 2010, 42:420-425.
31. Newton-Cheh C., et al. Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. Nat. Genet. 2009, 41:348-353.
32. Manolio T.A., et al. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
33. Busst C.J., et al. The epithelial sodium channel gamma-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses. Hypertension 2011, 58:1073-1078.
34. Raychaudhuri S., et al. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 2009, 5:e1000534.
35. Oikonen M., et al. Genetic variants and blood pressure in a population-based cohort: the Cardiovascular Risk in Young Finns study. Hypertension 2011, 58:1079-1085.
36. Taal H.R., et al. Genome-wide profiling of blood pressure in adults and children. Hypertension 2012, 59:241-247.
37. Renigunta A., et al. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. J. Biol. Chem. 2011, 286:2224-2235.
38. Boyden L.M., et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012, 482:98-102.
39. Ji W., et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet. 2008, 40:592-599.
40. Lifton R.P., et al. Molecular mechanisms of human hypertension. Cell 2001, 104:545-556.
41. Eyre-Walker A. 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 2010, 107(Suppl. 1):1752-1756.
42. Xin M., et al. MicroRNAs miR-143 and miR-145 modulate cytoskeletal dynamics and responsiveness of smooth muscle cells to injury. Genes Dev. 2009, 23:2166-2178.
43. Wang G., et al. Intrarenal expression of miRNAs in patients with hypertensive nephrosclerosis. Am. J. Hypertens. 2010, 23:78-84.
44. Marques F.Z., et al. Gene expression profiling reveals renin mRNA overexpression in human hypertensive kidneys and a role for microRNAs. Hypertension 2011, 58:1093-1098.
45. Li S., et al. Signature microRNA expression profile of essential hypertension and its novel link to human cytomegalovirus infection. Circulation 2011, 124:175-184.
46. Cheng J., et al. Cytomegalovirus infection causes an increase of arterial blood pressure. PLoS Pathog. 2009, 5:e1000427.
47. Esler M.D., et al. Renal sympathetic denervation in patients with treatment-resistant hypertension (The Symplicity HTN-2 Trial): a randomised controlled trial. Lancet 2010, 376:1903-1909.
48. Mu S., et al. Epigenetic modulation of the renal beta-adrenergic-WNK4 pathway in salt-sensitive hypertension. Nat. Med. 2011, 17:573-580.
49. Ellison D.H., Brooks V.L. Renal nerves, WNK4, glucocorticoids, and salt transport. Cell Metab. 2011, 13:619-620.
50. Zhang D., et al. Epigenetics and the control of epithelial sodium channel expression in collecting duct. Kidney Int. 2009, 75:260-267.
51. Gerszten R.E., Wang T.J. The search for new cardiovascular biomarkers. Nature 2008, 451:949-952.
52. Leitschuh M., et al. High-normal blood pressure progression to hypertension in the Framingham Heart Study. Hypertension 1991, 17:22-27.
53. Franklin S.S., et al. Hemodynamic patterns of age-related changes in blood pressure. The Framingham Heart Study. Circulation 1997, 96:308-315.
54. Burt V.L., et al. Prevalence of hypertension in the US adult population. Results from the Third National Health and Nutrition Examination Survey, 1988-1991. Hypertension 1995, 25:305-313.
55. Kaminer B., Lutz W.P. Blood pressure in Bushmen of the Kalahari Desert. Circulation 1960, 22:289-295.
56. Truswell A.S., et al. Blood pressures of Kung bushmen in Northern Botswana. Am. Heart J. 1972, 84:5-12.
57. Poulter N.R., et al. The Kenyan Luo migration study: observations on the initiation of a rise in blood pressure. BMJ 1990, 300:967-972.
58. Crews D.E., Mancilha-Carvalho J.J. Correlates of blood pressure in Yanomami Indians of northwestern Brazil. Ethn. Dis. 1993, 3:362-371.
59. Carvalho J.J., et al. Blood pressure in four remote populations in the INTERSALT Study. Hypertension 1989, 14:238-246.
60. Laville M., et al. Epidemiological profile of hypertensive disease and renal risk factors in black Africa. J. Hypertens. 1994, 12:839-843.
61. Neel J.V. Diabetes mellitus: a 'thrifty' genotype rendered detrimental by 'progress'?. Am. J. Hum. Genet. 1962, 14:353-362.
62. Nakajima T., et al. 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. 2004, 74:898-916.
63. Weder A.B. Evolution and hypertension. Hypertension 2007, 49:260-265.
64. Young J.H., et al. Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet. 2005, 1:e82.
65. Pickering G.W. The genetic factor in essential hypertension. Ann. Intern. Med. 1955, 43:457-464.
66. Oldham P.D., et al. The nature of essential hypertension. Lancet 1960, 1:1085-1093.
67. Adeyemo A., et al. A genome-wide association study of hypertension and blood pressure in African Americans. PLoS Genet. 2009, 5:e1000564.
68. Krzywinski M., et al. Circos: an information aesthetic for comparative genomics. Genome Res. 2009, 19:1639-1645.
69. Kent W.J., et al. The human genome browser at UCSC. Genome Res. 2002, 12:996-1006.