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Molecular Genetics and Familial Arterial Hypertension

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Genetic Approaches to Coronary Heart Disease and Hypertension

Summary

Human essential hypertension is a heterogeneous disorder of multifactorial origin. Genetic susceptibility plays an important role in the development of the disease and it has been estimated, from family and twin studies, that about 30% of the observed variation in blood pressure in the population is genetically determined The unimodal distribution of blood pressure in the general population as well as in the offspring of hypertensive parents, suggests that several genes are probably involved in genetic predisposition. Polymorphic variations in the structure of the genes involved in blood pressure regulation may be the origin of hypertension. One way of identifying these genes is to examining the role of potential candidate genes which influence blood pressure regulation and for which molecular molecular probes are available.

We have summarized in this chapter the results of three different genetic studies in which we have evaluated the effect of allelic variation on candidate genes, either on blood pressure level or on the phenotypic expression of these genes.

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References

  • Alhenc-Gelas F, Weare J, Johnson R, Erdƶs EG (1983) Measurement of human converting enzyme level by direct radioimmunoassay. J Lab Clin Med 101: 83ā€“96

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Cambien F, Alhenc-Gelas F, Herbeth B, Andre JL, Rakotovao R, Gonzales MF, Allegrini J, Bloch C (1988) Familial resemblance of plasma angiotensin-converting enzyme level: the Nancy study. Am J Hum Genet 43: 774ā€“780

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Canessa M, Adragna N, Solomon H, Connolly TM, Tosteson BS, Tosteson DC (1980) Increased sodium-lithium countertransport in red cells of patients with essential hypertension. N Engl J Med 302: 772ā€“776

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Cotton R, Rodrigues N, Campbell D (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85: 4397ā€“4401

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Cox NJ, Baker L, Spielman RS (1988) Insulin gene sharing in sib-pairs with insulin-dependent diabetes mellitus: no evidence for linkage. Am J Hum Genet 42: 167ā€“172

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Frossard PM, Gonzalez PA, Dillan NA, Coleman RT, Atlas SM (1986a) Human renin (REN) gene locus: Bgl II, Rsa I and Taq I RFLPs. Nucleic Acids Res 14: 6778

    Google ScholarĀ 

  • Frossard PM, Gonzalez PA, Fritz LC, Ponte PA, Fiddes JC, Atlas SM (1986b) Two RFLPs at the human renin (ren) gene locus. Nucleic Acids Res 14: 4380

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Ganguly A, Prockop DJ (1990) Detection of single-base mutations by reaction of DNA heteroduplexes with water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction. Nucleic Acid Res 18: 3933ā€“3939

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Gerbase-DeLima M, DeLima JJG, Persoli LB, Bernardes Silva H, Marcondes M, Bellotti G (1989) Essential hypertension and histocompatibility antigens. Hypertension 14: 604ā€“609

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Gyllensten UB, Erlich HA (1988) Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 85: 7652ā€“7656

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Hasstedt SJ, Wu LL, Ash KO, Kuida H, Williams RR (1988) Hypertension and sodium-lithium countertransport in Utah pedigrees: evidence for major locus inheritance. Am J Hum Genet 43: 014ā€“022

    CASĀ  Google ScholarĀ 

  • Hollenberg NK, Williams GH (1990) Abnormal renal function, sodium volume homeostasis, and renin system behavior in normal-renin essential hypertension. In: Laragh JH, Brenner BM (eds) Hypertension: pathophysiology, diagnosis and management. Raven, New York, pp 1349ā€“1370

    Google ScholarĀ 

  • Kurtz TW, Simonet L, Kabra PM, Wolfe S, Chan L, Hjelle BL (1990) Cosegregation of the renin allele of the spontaneously hypertensive rat with an increase in blood pressure. J Clin Invest 85: 1328ā€“1332

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Lange K (1986) The affected sib-pair method using identity by state relations. Am J Hum Genet 39: 148ā€“150

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Lifton RP, Hunt SC, Williams RR, Pouyssegur J, Lalouel JM (1991) Exclusion of the Ne/H+ antiporter as a candidate gene in human essential hypertension. Hypertension (in press)

    Google ScholarĀ 

  • Lindpaintner K, Takahasi S, Ganten D (1990) Structural alterations of the renin gene in stroke-prone spontaneously hypertensive rats: examination of genotype-phenotype correlations. J Hypertens 8: 763ā€“773

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Morris BJ, Griffiths LR (1988) Frequency in hypertensives of alleles for a RFLP associated with the renin gene. Biochem Biophys Res Commun 150: 219ā€“224

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Naftilan AJ, Williams R, Burt D, Paul M, Pratt RE, Hobart P, Chirgwin J, Dzau V (1989) A lack of genetic linkage of renin gene restriction length polymorphisms with human hypertension. Hypertension 14: 614ā€“618

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Nakamura Y, Leppert M, Oā€™Connell P, Wolf R, Hom T, Culver M, Martin C, Fujimoto E, Hoff M, Kumlin E, White R (1987) Variable number of tandem repeat ( VNTR) markers for human gene mapping. Science 235: 1616ā€“1622

    Google ScholarĀ 

  • Paterson AH, Lander ES, Hewitt JD, Peterson S, Lincoln SE, Tanksley SD (1988) Resolution of quantitative traits into Mendelian factors by using a complete linkage map of restriction fragment length polymorphisms. Nature 335: 721ā€“726

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Perusse L, Rice T, Bouchard C, Vogler GP, Rao DC (1989) Cardiovascular risk factors in a french-canadian population: resolution of genetic and familial environmental effects on blood pressure by using extensive information on environmental correlates. Am J Hum Genet 45: 240ā€“251

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Rapp JH, Wang SM, Dene H (1989) A genetic polymorphism in the renin gene of Dahl rats cosegregate with blood pressure. Science 243: 542ā€“544

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Ravogli A, Trazzi S, Villani A, Mutti E, Cuspidi C, Sampieri L, De Ambroggi L, Parti G, Zanchetti A, Mancia G (1990) Early 24-hour blood pressure elevation in normotensive subjects with parental hypertension. Hypertension 16: 491ā€“497

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F (1990) An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 86: 1343ā€“1346

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Sardet C, Franchi A, Pouyssegur J (1989) Molecular cloning, primary structure and expression of the human growth factor-activatable Na+/H+ antiporter. Cell 56: 271ā€“280

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Sealey J, Campbell GA, Preibisz JJ (1990) Hormone assays: renin, aldosterone, peripheral vein, renal vein, and urinary assays. In: Laragh JH, Brenner BM (eds) Hypertension: pathophysiology, diagnosis and management, Raven, New York, pp 1443ā€“1460

    Google ScholarĀ 

  • Soubrier F, Alhenc-Gelas F, Hubert C, Allegrini J, John M, Tregear G, Corvol P (1988) Two putative active centers in human angiotensin I-converting enzyme revealed by molecular cloning. Proc Natl Acad Sci USA 85: 9386ā€“9390

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Soubrier F, Jeunemaitre X, Rigat B, Houot AM, Cambien F, Corvol P (1990) Similar frequencies of renin gene RFLPs in hypertensive and normotensive subjects. Hypertension 16: 712ā€“717

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Toffelmire EB, Slater K, Corvol P, MĆ©nard J, Schambelan M (1989) Response of plasma prorenin and active renin to chronic and acute alterations of renin secretion in normal humans. J Clin Invest 83: 679ā€“687

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Turner S, Weidman W, Michels V, Reed T, Ormson C, Fuller T, Sing C (1989) Distribution of sodium lithium countertransport and blood pressure in caucasians five to eighty-nine years of age. Hypertension 13: 378ā€“391

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Walker WG, Whelton PK, Saito H, Russell RP, Hermann J (1979) Relation between blood pressure and renin, renin substrate, angiotensin II, aldosterone and urinary sodium and potassium in 574 ambulatory subjects. Hypertension 1: 287ā€“291

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Weber JL, May P (1989) Abundant class of human DNA polymorphisms which can be typed using polymerase chain reaction. Am J Hum Genet 44: 388ā€“396

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Zinner SH, Margolius HS, Rosner B, Keiser HR, Kass EH (1976) Familial aggregation of urinary kallikrein concentration in childhood: relation to blood pressure, race and urinary electrolytes. Am J Epidemiol 104: 124ā€“132

    PubMedĀ  CASĀ  Google ScholarĀ 

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Ā© 1991 Springer-Verlag Berlin Heidelberg

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Soubrier, F., JeunemaƮtre, X., Rigat, B., Cambien, F., Corvol, P. (1991). Molecular Genetics and Familial Arterial Hypertension. In: Berg, K., Bulyzhenkov, V., Christen, Y., Corvol, P. (eds) Genetic Approaches to Coronary Heart Disease and Hypertension. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-76891-0_4

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  • DOI: https://doi.org/10.1007/978-3-642-76891-0_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-76893-4

  • Online ISBN: 978-3-642-76891-0

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