Molecular genetics of human hypertension

Journal of Hypertension

Volumn 16, Issue 12 SUPPL., 1998, Pages 1871-1878

  Luft, Friedrich C ^a  

^a FRANZ VOLHARD CLINIC   (Germany)

Author keywords

Cardiovascular risk; Genes; Genetics; Hypertension; Salt sensitivity

Indexed keywords

ADDUCIN; ANGIOTENSINOGEN; BETA 2 ADRENERGIC RECEPTOR; DIPEPTIDYL CARBOXYPEPTIDASE; GUANINE NUCLEOTIDE BINDING PROTEIN; SODIUM CHANNEL;

ALLELE; BLOOD PRESSURE; BRACHYDACTYLY; CONFERENCE PAPER; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HYPERALDOSTERONISM; HYPERTENSION; LIDDLE SYNDROME; MALE; METHODOLOGY; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; SEX DIFFERENCE;

EID: 0032422585     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004872-199816121-00004     Document Type: Conference Paper

References (52)

1. Luft FC. Scientific conference on the genome: applications to cardiovascular biology (editorial). J Mol Med 1998; 76:369-371.
2. Luft FC, Schuster H, Bilginturan N, Wienker T. 'Treasure your exceptions': what we can learn from autosomal dominant inherited forms of hypertension. J Hypertens 1995; 13:1535-1538.
3. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. A chimaeric 11 β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992; 355:262-265.
4. Mune T, Roberson FM, Nikkilä H, Agarwal AK, White PC. Human hypertension caused by mutations in the kidney isozyme of 11 β-hydroxysteroid dehydrogenase. Nat Genet 1995; 10:394-399.
5. Li A, Li KX, Marui S, Krozowski ZS, Batista MC, Whorwood CB, et al. Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygous state. J Hypertens 1997; 15:1397-1402.
6. Botero-Velez M, Curtis JJ, Warnock DG. Liddle's syndrome revisited. N Engl J Med 1994; 330: 178-181.
7. Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the β-subunit of the epithelial sodium channel. Cell 1994; 79:407-414.
8. Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, et al. Hypertension caused by a truncated epithelial sodium channel γ-subunit: genetic heterogeneity of Liddle syndrome. Nat Genet 1995; 11:76-82.
9. Palmer BF, Alpern RJ. Liddle's syndrome. Am J Med 1998; 104:301-309.
10. Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type I. Nat Genet 1996; 12:248-253.
11. Geller DS, Rodriguez-Soriano J, Boado AV, Schifter S, Bayer M, Chang SS, Lifton RP. Mutations in the mineralocorticoid receptor gene cause autosomal-dominant pseudohypoaldosteronism type I. Nat Genet 1998; 19:279-281.
12. Simon DB, Nelson-Williams C, Johnson Bia M, Ellison D, Karet FE, Molina AM, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive NaCl cotransporter. Nat Genet 1996; 12:24-30.
13. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the NaK2Cl cotransporter NKCC2. Nat Genet 1996; 13:183-188.
14. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, Dipietro A, Trachtman H, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 1996; 14:152-156.
15. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997; 17:171-178.
16. Mansfield TA, Simon DB, Farfel Z, Bia M, Tucci JR, Lebel M, et al. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q13-42 and 17p11-q21. Nat Genet 1997; 16:202-205.
17. Schuster H, Wienker TF, Bähring S, Bilginturan N, Toka HR, Neitzel H, et al. Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nat Genet 1996; 4:98-100.
18. Schuster H, Wienker TF, Toka HR, Bähring S, Jeschke E, Toka O, et al. Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension. Hypertension 1996; 28:1085-1092.
19. Toka HR, Bähring S, Chitayat D, Melby JC, Whitehead R, Jeschke E, et al. Families with autosomal-dominant brachydactyly type E, short stature, and severe hypertension. Ann Intern Med 1998; 129:204-208.
20. Bähring S, Nagai T, Toka HR, Nitz C, Toka O, Aydin A, et al. Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J Human Genet 1997; 60:732-735.
21. Soubrier F. Blood pressure gene at the angiotensin I-converting enzyme locus: chronicle of a gene foretold. Circulation 1998; 97:1763-1765.
22. O'Donnell CJ, Lindpaintner K, Larson MG, Rao VS, Ordovas JM, Schaefer EJ, et al. Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation 1998; 97:1766-1772.
23. Fornage M, Amos CI, Kardia S, Sing CF, Turner ST, Boerwinkle E. Variation in the region of the angiotensin-converting enzyme gene influences interindividual differences in blood pressure levels in young white males. Circulation 1998; 97:1773-1779.
24. Jeunmaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS, et al. Molecular basis of human hypertension: role of angiotensinogen. Cell 1992; 71:169-180.
25. Inoue I, Nakajima T, Williams CS, Quackenbush J, Puryear R, Powers M, et al. A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription. J Clin Invest 1997; 99:1786-1797.
26. Jeunemaitre X, Inoue I, Williams C, Charru A, Tichet J, Powers M, et al. Haplotypes of angiotensin in essential hypertension. Am J Hum Genet 1997; 60:1448-1460.
27. Caulfield M, Lavender P, Newell-Price J, Kamdar S, Farrall M, Clark AJL. Angiotensinogen in human essential hypertension. Hypertension 1996; 28:1123-1125.
28. Kunz R, Kreutz R, Beige J, Distler A, Sharma AM. Association between the angiotensinogen 235T-variant and essential hypertension in whites: a systematic review and methodological appraisal. Hypertension 1997; 30:1331-1337.
29. Manunta P, Cusi D, Barlassina C, Righetti M, Lanzani C, D'Amico M. et al. Alpha-adducin polymorphisms and renal sodium handling in essential hypertensive patients. Kidney Int 1998; 53:1471-1478.
30. Kato N, Sugiyama T, Nabika T, Morita H, Kurihara H, Yazaki Y, Yamori Y. Lack of association between the α-adducin locus and essential hypertension in the Japanese population. Hypertension 1998; 31: 730-733.
31. 2-adrenergic receptor locus. Hypertension 1997; 29:918-922.
32. Yang-Feng TL, Xue FY, Zhong WW, Cotecchia S, Frielle T, Caron MG, et al. Chromosomal organization of adrenergic receptor genes. Proc Natl Acad Sci USA 1990; 87:1516-1520.
33. Green SA, Turki J, Innis M, Liggett SB. Amino-terminal polymorphisms of the human β2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry 1994; 33:9414-9419.
34. Turki J, Pak J, Green SA, Martin RJ, Ligget SB. Genetic polymorphisms of the β2-adrenergic receptor in nocturnal and non-nocturnal asthma: evidence that Gyl6 correlates with the nocturnal phenotype. J Clin Invest 1995; 95:1635-1641.
35. Kotanko P, Höglinger O, Skrabal F. Beta2-adrenoceptor density in fibroblast culture correlates with human NaCl sensitivity. Am J Physiol 1992; 263:C623-C627.
36. Kotanko P, Binder A, Tasker J, DeFreitas P, Kamdar S, Clark AJL, et al. Essential hypertension in African Caribbeans associates with a variant of the β2-adrenoceptor. Hypertension 1997; 30:773-776.
37. Timmermann B, Mo R, Luft FC, Gerdts E, Busjahn A, Omvik P, et al. Beta2-adrenoceptor genetic variation is associated with genetic propensity to essential hypertension: The Bergen Blood Pressure Study. Kidney Int 1998; 53:1455-1460.
38. Siffert W. G-proteins and hypertension: an alternative candidate gene approach. Kidney Int 1998; 53:1466-1470.
39. Siffert W, Rosskopf D, Siffert G, Busch S, Moritz A, Erbel R, et al. Association of a human G-protein β3-subunit variant with hypertension. Nat Genet 1998; 18:8-10.
40. Su YR, Rutkowski MP, Klanke CA, et al. A novel variant of the β-subunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol 1996; 7:2543-2549.
41. Baker EH, Dong YB, Sagnella GA, Rothwell M, Onipinia AK, Markandu ND, et al. Association of hypertension with T594M mutation in β-subunit of epithelial sodium channels in black people resident in London. Lancet 1998; 351:1388-1392.
42. Pickering GW. Systemic arterial hypertension. Circulation of the blood, men and ideas. In: Fishman AP, Richards DW (editors). American Physiological Society, Bethesda, Maryland; 1982. pp. 487-541
43. Miall WE, Oldham PD. A study of arterial pressure and its inheritance in a sample of the general population. Clin Sci 1955; 14:459-461.
44. Jones HB. The relative power of linkage and association studies for the detection of genes involved in hypertension. Kidney Int 1998; 53:1446-1448.
45. Risch N, Merikangas K. The future of genetic studies of complex diseases. Science 1996; 273:1516-1517.
46. Ewens WJ, Spielman RS. The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 1995; 57:455-464.
47. Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998; 62:450-458.
48. Nagy Z, Busjahn A, Bähring S, Faulhaber H-D, Gohlke H-R, Knoblauch H, et al. Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, and the angiotensin II-receptor gene loci in man. Hypertension 1997; 30:494A.
49. Donelly KP. The probability that related individuals share some section of genome identical by descent. Theor Pop Biol 1983: 23:43-63.
50. Lander ES, Botstein D. Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. Cold Spring Harb Symp Quant Biol 1986; 51:49-62.
51. de Vries H, van der Meulen MA, Rozen R, Halley JJD, Scheffer H, ten Kate LP, et al. Haplotype identity between individuals who share a CFTR mutation allele 'identical by descent': demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations. Hum Genet 1996; 98:304-309.
52. de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993; 30:857-865.