Genetics of hypertension

Current Opinion in Genetics and Development

Volumn 10, Issue 3, 2000, Pages 325-329

  Munroe, Patricia B ^a   Caulfield, Mark J ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE SYNTHASE; ANGIOTENSIN; ANGIOTENSINOGEN; DIPEPTIDYL CARBOXYPEPTIDASE; SODIUM; SODIUM CHANNEL;

ANIMAL EXPERIMENT; ANIMAL MODEL; BLOOD PRESSURE REGULATION; ESSENTIAL HYPERTENSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENOME; HAPLOTYPE; HOMEOSTASIS; HUMAN; HYPERTENSION; MOLECULAR GENETICS; MOUSE; NONHUMAN; PRIORITY JOURNAL; REVIEW;

ALDOSTERONE SYNTHASE; ANGIOTENSINOGEN; ANIMALS; EPITHELIAL SODIUM CHANNEL; GENOME, HUMAN; HUMANS; HYPERTENSION; MICE; RATS; RATS, INBRED SHR; SODIUM CHANNELS;

ANIMALIA;

EID: 0034028863     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(00)00081-2     Document Type: Review

References (38)

1. Horan M., Lenfant C. Epidemiology of blood pressure and predictors of hypertension. Hypertension. 15:1990;120-124.
2. Ward R. Familial aggregation and genetic epidemiology of blood pressure. Laragh J.H., Brenner B.M. Hypertension: Pathophysiology, Diagnosis and Management. 1990;81-100 Raven Press, New York.
3. Zhao Y.Y., Zhou J., Narayanan C.S., Cui Y., Kumar A. Role of C/A polymorphism at -20 on the expression of human angiotensinogen gene. Hypertension. 33:1999;108-115. This paper describes in vitro studies of expression vectors containing variations of the A-20C polymorphism of the angiotensinogen gene. Analysis reveals preferential binding to the oestrogen receptor if adenine is present at position -20 and preferential binding of a viral transcription factor if cytosine is at this position. Constructs containing cytosine at position -20 are also found to have increased basal promoter activity.
4. Ishigami T., Tamura K., Fujita T., Kobayashi I., Hibi K., Kihara M., Toya Y., Ochiai H., Umemura S. Angiotensinogen gene polymorphism near transcription site and blood pressure: role of a T-to-C transition in intron 1. Hypertension. 34:1999;430-434.
5. Inoue I., Nakajimi T., Williams C.S., Quackenbush J., Puryear R., Powers M., Cheng T., Ludwig E.H., Sharma A.M., Hata A.et al. A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro. J Clin Invest. 99:1997;1786-1797.
6. Paillard F., Chansel D., Brand E., Benetos A., Thomas F., Czekalski S., Ardailou R., Soubrier F. Genotype-phenotype relationships for the renin-angiotensin-aldosterone system in a normal population. Hypertension. 34:1999;423-429.
7. Nakajimi T., Cheng T., Rohrwasser A., Bloem L.J., Pratt J.H., Inoue I., Lalouel J-M. Functional analysis of a mutation occuring between two in-frame AUG codons of human angiotensinogen. J Biol Chem. 274:1999;35749-35755.
8. Brand E., Chatelain N., Mulatero P., Fery I., Curnow K., Jeunemaitre X., Corvol P., Pascoe L., Soubrier F. Structural analysis and evaluation of the aldosterone synthase gene in hypertension. Hypertension. 32:1998;198-204.
9. Davies E., Holloway C.D., Ingram M.C., Inglis G.C., Friel E.C., Morrison C., Anderson N.H., Fraser R., Connell J.M.C. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene, CYP11B2. Hypertension. 33:1999;703-707.
10. Wong Z.Y.H., Stebbing M., Ellis J.A., Lamantia A., Harrap S.B. Genetic linkage of β and γ subunits of epithelial sodium channel to systolic blood pressure. Lancet. 353:1999;1222-1225.
11. Nagy Z., Busjahn A., Bahring S., Faulhaber H.D., Gohlke H.R., Knoblach H., Rosenthal M., MullerMyhsok B., Schuster K., Luft F.C. Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin type II-receptor gene and renin loci in man. J Am Soc Nephrology. 10:1999;1709-1716.
12. Krushkal J., Ferrell R., Mockrin S., Turner S., Sing C.F., Boerwinkle E. Genome-wide linkage analysis of systolic blood pressure using highly discordant siblings. Circulation. 99:1999;1407-1410. This rapid communication reports data on the first published genome screen for blood pressure genes in humans. A discordant sib-pair design is used, and four chromosomal regions are found to have significant statistical linkage to systolic blood pressure.
13. Lander E., Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 11:1995;241-247.
14. Xu X., Rogus J.J., Terwedow H.A., Yang J., Wang Z., Chen C., Niu T., Wang B., Xu H., Weiss S.et al. An extreme-sib-pair genome scan for genes regulating blood pressure. Am J Hum Genet. 64:1999;1694-1701. This paper describes a systematic search for genes controlling systolic and diastolic blood pressure in high concordant, low concordant and discordant sib-pairs selected from a screen of more than 200 000 adults from Anqing in China. No chromosomal regions reach statistical significance, but five regions give suggestive linkage to blood pressure and eight regions are regarded as promising.
15. Xu X., Yang J., Rogus J., Chen C., Schork N., Xu X. Mapping of a blood pressure quantitative locus to chromosome 15q in a Chinese population. Hum Mol Genet. 8:1999;2551-2555. This paper describes confirmation of a diastolic blood pressure QTL mapping to the long arm of chromosome 15 in Chinese concordant hypotensive sib-pairs.
16. Wright F.A., O'Connor D.T., Roberts E., Kutey G., Berry C.C., Yoneda L.U., Timberlake D., Schlager S. Genome scan for blood pressure loci in mice. Hypertension. 34:1999;625-630. This paper describes the results from the first genome screen for genes involved in regulating blood pressure in the mouse. Significant linkage is found on two chromosomal regions; four regions have suggestive evidence of linkage to blood pressure. There are other regions with suggestive evidence of linkage to pulse rate and haemocrit levels.
17. Dominiczak A.F., Clark J.S., Jeffs B., Anderson N.H., Negrin C.D., Lee W.K., Brosnan M.J. Genetics of experimental hypertension. J Hypertension. 16:1998;1859-1869.
18. Kantachuvesiri S., Haley C.S., Fleming S., Kurian K., Whitworth C.E., Wenham P., Kotelevtsev Y., Mullins J.J. Genetic mapping of modifier loci affecting malignant hypertension in TGRmRen2 rats. Kidney Int. 56:1999;414-420. This paper describes the application of a transgene being used as a main gene to determine modifier loci. The transgenic rat (TGRmRen2) develops malignant hypertension; however, the severity varies according to the control rat with which it is bred. Genome-wide screening and QTL analysis reveal the location of potential modifier genes in the Fischer and Lewis control rats.
19. Kato N., Hyne G., Bihoreau M.T., Gauguier D., Lathrop M., Rapp J.P. Complete genome searches for quantitative trait loci controlling blood pressure and related traits in four segregating populations derived from Dahl sensitive hypertensive rats. Mammalian Genome. 10:1999;259-265.
20. Hubner N., Lee A.E., Lindpaintner K., Ganten D., Kreutz R. Congenic substitution mapping excludes Sa as a candidate gene locus for a blood pressure quantitative trait locus on rat chromosome 1. Hypertension. 34:1999;643-648.
21. St Lezin E., Zhang L., Yang Y., Wang J-M., Qi N., Steadman J.S., Liu W., Kren V., Zidek V., Krenova D.et al. Effect of a chromosome 19 transfer on blood pressure in the spontaneously hypertensive rat. Hypertension. 33:1999;256-260.
22. St Lezin E., Griffin K.A., Picken M., Churchill M.C., Churchill P.C., Kurtz T.W., Liu W., Wang N., Kren V., Zidek V.et al. Genetic isolation of a chromosome 1 region affecting susceptibility to hypertension-induced renal damage in the spontaneously hypertensive rat. Hypertension. 34:1999;187-191.
23. Watanabe T.K., Bihoreau M.T., McCarthy L.C., Kiguwa S.L., Hishigaki H., Tsuji A., Browne J., Yamasaki Y., Mizoguchi-Miyakita A., Oga K.et al. A radiation hybrid map of the rat genome containing 5,255 markers. Nat Genet. 22:1999;27-36. This paper describes new resources for genomic studies in the rat. It includes a whole-genome radiation hybrid map, a high-resolution map containing over 3 000 new microsatellites and a comparative map with over 500 genes localised to the radiation hybrid map from mapping information available from the mouse and human maps.
24. Hilbert P., Lindpaintner K., Beckmann J.S., Serikawa T., Soubrier F., Dubay Cartwright P., De Gouyon B., Julier C., Takahasi S. Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats. Nature. 353:1991;521-529.
25. Jacob H.J., Lindpaintner K., Lincoln S.E., Kusumi K., Bunker R.K., Mao Y.P., Ganten D., Dzau V.J., Lander E.S. Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. Cell. 67:1991;213-224.
26. Julier C., Delephine M., Keavney B., Terwilliger J., Davis S., Weeks D.E., Bui T., Jeunemaitre X., Velho G., Froguel P.et al. Genetic susceptibility for familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. Hum Mol Genet. 6:1997;2077-2085.
27. Baima J., Nicolaou M., Schwartz F., DeStefano A.L., Manolis A., Gavras I., Laffer C., Elijovich F., Farrer L., Baldwin C., Gavras H. Evidence for linkage between essential hypertension and a putative locus on human chromosome 17. Hypertension. 34:1999;4-7. This paper confirms linkage between a small region on human chromosome 17q and blood pressure in Caucasian hypertensive sib-pairs. No support for linkage of this region is found in black hypertensive sib-pairs.
28. Marshall E. Drug firms to create public database of genetic mutations. Science. 284:1999;406-407.
29. Cambien F., Poirier O., Nicaud V., Herrmann S-M., Mallet C., Ricard S., Behague I., Hallet V., Blanc H., Loukaci V.et al. Sequence diversity in 36 candidate genes for cardiovascular disorders. Am J Hum Genet. 65:1999;183-191. This paper describes the molecular screening of 36 candidate genes for cardiovascular diseases. DNA variations are discovered using single-stranded conformation polymorphism analysis and allele frequencies are determined in a cohort of 750 individuals.
30. Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J.et al. Characterisation of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 22:1999;231-238. This paper describes the molecular variation in the coding region of 106 genes that are relevant to cardiovascular disease, neuropyschiatry and endocrine disorders. Single-nucleotide polymorphism detection is carried out by using chip technology and denaturing high performance liquid chromotography.
31. Halushka M.K., Fan J-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A. Patterns of single-nucleotide polymorphisms in candidate genes for blood pressure homeostasis. Nat Genet. 22:1999;239-247. This paper describes the molecular variation in 75 candidate genes for blood pressure homeostasis and hypertension in individuals of northern European and African descent. Single-nucleotide polymorphism detection is performed using chip technology.
32. MacGregor G.A., Markandu N.D., Roulston J.E., Jones J.C., Morton J.J. Maintenance of blood pressure by the renin-angiotensin system in normal man. Nature. 291:1981;329-331.
33. Cambien F., Poirer O., Lecerl L., Evans A., Cambous J-P., Arvelier D., Luc G., Bard J-M., Bara L., Ricard S.et al. Deletion polymorphism in the gene for the angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature. 359:1992;641-644.
34. Soubrier F., Nadaud S., Williams T.A. Angiotensin 1 converting enzyme gene: regulation, polymorphism and implications for cardiovascular disease. Eur Heart J. 15:1994;24-29.
35. Lindpaintner K., Pfeffer M.A., Kreutz R., Stampfer M.J., Grodstein F., LaMotte F., Buring J., Hennekens C.H. A prospective evaluation of an angiotensin-converting enzyme gene polymorphism and the risk of ischaemic heart disease. New Eng J Med. 332:1995;706-711.
36. Rieder M.J., Taylor S.L., Clark A.G., Nickerson D.A. Sequence variation in the human angiotensin converting enzyme. Nat Genet. 22:1999;59-62. This paper describes the complete genomic sequence and polymorphisms of the angiotensin-converting enzyme. Seventy-eight variants are found and these are used to determine the haplotypes associated with an insertion/deletion polymorphism in intron 16 and circulating concentrations of the enzyme.
37. •] are used.
38. Keavney B., McKenzie C.A., Connell J.M.C., Julier C., Ratcliffe P.J., Sobel E., Lathrop M., Farrall M. Measured haplotype analysis of the angiotensin-1 converting enzyme gene. Hum Mol Genet. 7:1998;1745-1751.