Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: A model of the complex relationship between ACE quantitative trait locus and pathological phenotypes

Human Molecular Genetics

Volumn 14, Issue 16, 2005, Pages 2357-2367

  Catarsi, Paolo ^a   Ravazzolo, Roberto ^a,d   Emma, Francesco ^b   Fruci, Doriana ^b   Finos, Livio ^c   Frau, Andrea ^a   Morreale, Giacomo ^a   Carrea, Alba ^a   Ghiggeri, Gian Marco ^a  

^a G GASLINI INSTITUTE   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM ANTAGONIST; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; DIPEPTIDYL CARBOXYPEPTIDASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GUANINE; METHYLPREDNISOLONE; NUCLEOTIDE; PLASMINOGEN ACTIVATOR INHIBITOR 1; STEROID;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BLOOD DONOR; BLOOD PRESSURE; CHILD; CLADISTICS; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DRUG HYPERSENSITIVITY; DRUG RESPONSE; DRUG SENSITIVITY; DRUG WITHDRAWAL; ENVIRONMENTAL FACTOR; ENZYME BLOOD LEVEL; FEMALE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC MODEL; GENETIC RECOMBINATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTENSION; INTRON; ITALY; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; REGRESSION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; TREATMENT OUTCOME;

ADOLESCENT; ADULT; BLOOD PRESSURE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CYCLOSPORINE; ENZYME INHIBITORS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; HYPERTENSION; INFANT; KIDNEY FAILURE; MALE; PEPTIDYL-DIPEPTIDASE A; PHENOTYPE; PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYMORPHISM, GENETIC; QUANTITATIVE TRAIT LOCI; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 26444517149     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi238     Document Type: Article

References (61)

1. Hollenberg, N.K., Fisher, N.D. and Price, D.A. (1998) Pathways for angiotensin II generation in intact human tissue: Evidence from comparative pharmacological interruption of the renin system. [i#Hypertension#1i], [b#32#1b], 387-392.
2. McKenzie, C.A., Julier, C., Forrester, T., McFarlane-Anderson, N., Keavney, B., Lathrop, G.M., Ratcliffe, P.J. and Farrall, M. (1995) Segregation and linkage analysis of serum angiotensin I-converting enzyme levels: Evidence for two quantitative-trait loci. [i#Am. J. Hum. Genet.#1i], [b#57#1b], 1426-1435.
3. Rigat, B., Hubert, C., Alhenc-Gelas, F., Cambien, F., Corvol, P. and Soubrier, F. (1990) An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. [i#J. Clin. Invest.#1i], [b#86#1b], 1343-1346.
4. Tiret, L., Rigat, B., Visvikis, S., Breda, C., Corvol, P., Cambien, F. and Soubrier, F. (1992) Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. [i#Am. J. Hum. Genet.#1i], [b#51#1b], 197-205.
5. Villard, E., Tiret, L., Visvikis, S., Rakotovao, R., Cambien, F. and Soubrier, F. (1996) Identification of new polymorphisms of the angiotensin I-converting enzyme (ACE) gene, and study of their relationship to plasma ACE levels by two-QTL segregation-linkage analysis. [i#Am. J. Hum. Genet.#1i], [b#58#1b], 1268-1278.
6. Farrall, M., Keavney, B., McKenzie, C., Delepine, M., Matsuda, F. and Lathrop, G.M. (1999) Fine-mapping of an ancestral recombination breakpoint in DCP1. [i#Nat. Genet.#1i], [b#23#1b], 270-271.
7. Keavney, B., McKenzie, C.A., Connell, J.M., Julier, C., Ratcliffe, P.J., Sobel, E., Lathrop, M. and Farrall, M. (1998) Measured haplotype analysis of the angiotensin-I converting enzyme gene. [i#Hum. Mol. Genet.#1i], [b#7#1b], 1745-1751.
8. Rieder, M.J., Taylor, S.L., Clark, A.G. and Nickerson, D.A. (1999) Sequence variation in the human angiotensin-converting enzyme. [i#Nat. Genet.#1i], [b#22#1b], 59-62.
9. Zhu, X., Bouzekri, N., Southam, L., Cooper, R.S., Adeyemo, A., McKenzie, C.A., Luke, A., Chen, G., Elston, R.C. and Ward, R. (2001) Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentration and blood pressure. [i#Am. J. Hum. Genet.#1i], [b#68#1b], 1139-1148.
10. McKenzie, C.A., Abecasis, G.R., Keavney, B., Forrester, T., Ratcliffe, P.J., Julier, C., Connell, J.M., Bennett, F., McFarlane-Anderson, N., Lathrop, G.M. [i#et al.#1i] (2001) Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE). [i#Hum. Mol. Genet.#1i], [b#10#1b], 1077-1084.
11. Zhu, X., McKenzie, C.A., Forrester, T., Nickerson, D.A., Broeckel, U., Schunkert, H., Doering, A., Jacob, H.J., Cooper, R.S. and Rieder, M.J. (2000) Localization of a small genomic region associated with elevated ACE. [i#Am. J. Hum. Genet.#1i], [b#67#1b], 1144-1153.
12. Cox, R., Bouzekri, N., Martin, S., Southam, L., Hugill, A., Golamaully, M., Cooper, R., Adeyemo, A., Soubrier, F., Ward, R. [i#et al.#1i] (2002) Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides. [i#Hum. Mol. Genet.#1i], [b#11#1b], 2969-2977.
13. Gambaro, G., Anglani, F. and D'Angelo, A. (2000) Association studies of genetic polymorphisms and complex disease. [i#Lancet#1i], [b#355#1b], 308-311.
14. Border, W.A. and Noble, N.A. (1998) Interactions of transforming growth factor-beta and angiotensin II in renal fibrosis. [i#Hypertension#1i], [b#31#1b], 181-188.
15. Jeunemaitre, X., Soubrier, F., Kotelevtsev, Y.V., Lifton, R.P., Williams, C.S., Charru, A., Hunt, S.C., Hopkins, P.N., Williams, R.R., Lalouel, J.M. [i#et al.#1i] (1992) Molecular basis of human hypertension: role of angiotensinogen. [i#Cell#1i], [b#71#1b], 169-180.
16. Bonnardeaux, A., Davies, E., Jeunemaitre, X., Fery, I., Charru, A., Clauser, E., Tiret, L., Cambien, F., Corvol, P. and Soubrier, F. (1994) Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. [i#Hypertension#1i], [b#24#1b], 63-69.
17. Yamamoto, N., Nakayama, J., Yamakawa-Kobayashi, K., Hamaguchi, H., Miyazaki, R. and Arinami, T. (2002) Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase [i#(ALAP)#1i] gene and possible association with hypertension. [i#Hum. Mutat.#1i], [b#19#1b], 251-257.
18. Ma, L.J., Nakamura, S., Aldigier, J.C., Rossini, M., Yang, H., Liang, X., Nakamura, I., Marcantoni, C. and Fogo, A.B. (2005) Regression of glomerulosclerosis with high-dose angiotensin inhibition is linked to decreased plasminogen activator inhibitor-1. [i#J. Am. Soc. Nephrol.#1i], [b#16#1b], 966-976.
19. Di Paolo, S., Schena, A., Stallone, G., Grandaliano, G., Soccio, M., Cerullo, G., Gesualdo, L. and Paolo Schena, F. (2002) Captopril enhances transforming growth factor (TGF)-beta1 expression in peripheral blood mononuclear cells: A mechanism independent from angiotensin-converting enzyme inhibition? A study in cyclosporine-treated kidney-transplanted patients. [i#Transplantation#1i], [b#74#1b], 1710-1715.
20. Iijima, K., Hamahira, K., Kobayashi, A., Nakamura, H. and Yoshikawa, N. (2000) Immunohistochemical analysis of renin activity in chronic cyclosporine nephropathy in childhood nephrotic syndrome. [i#J. Am. Soc. Nephrol.#1i], [b#11#1b], 2265-2271.
21. Lassila, M. (2002) Interaction of cyclosporine A and the renin-angiotensin system: New perspectives. [i#Curr. Drug. Metab.#1i], [b#3#1b], 61-71.
22. Lassila, M., Finckenberg, P., Pere, A.K., Krogerus, L., Ahonen, J., Vapaatalo, H. and Nurminen, M.L. (2000) Comparison of enalapril and valsartan in cyclosporine A-induced hypertension and nephrotoxicity in spontaneously hypertensive rats on high-sodium diet. [i#Br. J. Pharmacol.#1i], [b#130#1b], 1339-1347.
23. Lassila, M., Santisteban, J., Finckenberg, P., Salmenpera, P., Riutta, A., Moilanen, E., Virtanen, I., Vapaatalo, H. and Nurminen, M.L. (2001) Vascular changes in cyclosporine A-induced hypertension and nephrotoxicity in spontaneously hypertensive rats on high-sodium diet. [i#J. Physiol. Pharmacol.#1i], [b#52#1b], 21-38.
24. Nishiyama, A., Kobori, H., Fukui, T., Zhang, G.X., Yao, L., Rahman, M., Hitomi, H., Kiyomoto, H., Shokoji, T., Kimura, S. [i#et al.#1i] (2003) Role of angiotensin II and reactive oxygen species in cyclosporine A-dependent hypertension. [i#Hypertension#1i], [b#42#1b], 754-760.
25. Padi, S.S. and Chopra, K. (2002) Selective angiotensin II type 1 receptor blockade ameliorates cyclosporine nephrotoxicity. [i#Pharmacol. Res.#1i], [b#45#1b], 413-420.
26. Soubrier, F., Martin, S., Alonso, A., Visvikis, S., Tiret, L., Matsuda, F., Lathrop, G.M. and Farrall, M. (2002) High-resolution genetic mapping of the ACE-linked QTL influencing circulating ACE activity. [i#Eur. J. Hum. Genet.#1i], [b#10#1b], 553-561.
27. Zhu, X., Yan, D., Cooper, R.S., Luke, A., Ikeda, M.A., Chang, Y.P., Weder, A. and Chakravarti, A. (2003) Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure program. [i#Genome. Res.#1i], [b#13#1b], 173-181.
28. Kaessmann, H., Zöllner, S., Gustafsson, A.C., Wiebe, V., Laan, M., Lunderberg, J., Uhlén, M. and Pääbo, S. (2002) Extensive linkage disequilibrium in small human population in Eurasia. [i#Am. J. Hum. Genet.#1i], [b#70#1b], 673-685.
29. Danilov, S., Savoie, F., Lenoir, B., Jeunemaitre, X., Azizi, M., Tarnow, L. and Alhenc-Gelas, F. (1996) Development of enzyme-linked immunoassays for human angiotensin I converting enzyme suitable for large-scale studies. [i#J. Hypertens.#1i], [b#14#1b], 719-727.
30. Ghiggeri, G.M., Catarsi, P., Scolari, F., Caridi, G., Bertelli, R., Carrea, A., Sanna-Cherchi, S., Emma, F., Allegri, L., Cancarini, G. [i#et al.#1i] (2004) Cyclosporine in patients with steroid-resistant nephrotic syndrome: An open-label, nonrandomized, retrospective study. [i#Clin. Ther.#1i], [b#26#1b], 1411-1418.
31. Bianchi, G., Baer, P.G., Fox, U. and Guidi, E. (1977) The role of the kidney in the rat with genetic hypertension. [i#Postgrad. Med. J.#1i], [b#53#1b] (Suppl. 2), 123-138.
32. Dahl, L.K. and Heine, M. (1975) Primary role of renal homografts in setting chronic blood pressure levels in rats. [i#Circ. Res.#1i], [b#36#1b] 692-696.
33. Curtis, J.J., Luke, R.G., Dustan, H.P., Kashgarian, M., Whelchel, J.D., Jones, P. and Diethelm, A.G. (1983) Remission of essential hypertension after renal transplantation. [i#N. Engl. J. Med.#1i], [b#309#1b], 1009-1015.
34. Lifton, R.P. (1996) Molecular genetics of human blood pressure variation. [i#Science#1i], [b#272#1b], 676-680.
35. Johnson, R.J., Herrera-Acosta, J., Schreiner, G.F. and Rodriguez-Iturbe, B. (2002) Subtle acquired renal injury as a mechanism of salt-sensitive hypertension. [i#N. Engl. J. Med.#1i], [b#346#1b], 913-923.
36. Krege, J.H., Kim, H.S., Moyer, J.S., Jennette, J.C., Peng, L., Hiller, S.K. and Smithies, O. (1997) Angiotensin-converting enzyme gene mutations, blood pressures, and cardiovascular homeostasis. [i#Hypertension#1i], [b#29#1b], 150-157.
37. Cole, J.M., Khokhlova, N., Sutliff, R.L., Adams, J.W., Disher, K.M., Zhao, H., Capecchi, M.R., Corvol, P. and Bernstein, K.E. (2003) Mice lacking endothelial ACE: Normal blood pressure with elevated angiotensin II. [i#Hypertension#1i], [b#41#1b], 313-321.
38. Knight, J., Munroe, P.B., Pembroke, J.C. and Caulfield, M.J. (2003) Human chromosome 17 in essential hypertension. [i#Ann. Hum. Genet.#1i], [b#67#1b], 193-206.
39. Julier, C., Delepine, M., Keavney, B., Terwilliger, J., Davis, S., Weeks, D.E., Bui, T., Jeunemaitre, X., Velho, G., Froguel, P. [i#et al.#1i] (1997) Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. [i#Hum. Mol. Genet.#1i], [b#6#1b], 2077-2085.
40. Baima, J., Nicolaou, M., Schwartz, F., DeStefano, A.L., Manolis, A., Gavras, I., Laffer, C., Elijovich, F., Farrer, L., Baldwin, C.T. [i#et al.#1i] (1999) Evidence for linkage between essential hypertension and a putative locus on human chromosome 17. [i#Hypertension#1i], [b#34#1b], 4-7.
41. Levy, D., DeStefano, A.L., Larson, M.G., O'Donnell, C.J., Lifton, R.P., Gavras, H., Cupples, L.A. and Myers, R.H. (2000) Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the Framingham heart study. [i#Hypertension#1i], [b#36#1b], 477-483.
42. O'Donnell, C.J., Lindpaintner, K., Larson, M.G., Rao, V.S., Ordovas, J.M., Schaefer, E.J., Myers, R.H. and Levy, D. (1998) 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. [i#Circulation#1i], [b#97#1b], 1766-1772.
43. Fornage, M., Amos, C.I., Kardia, S., Sing, C.F., Turner, S.T. and Boerwinkle, E. (1998) Variation in the region of the angiotensin-converting enzyme gene influences interindividual differences in blood pressure levels in young white males. [i#Circulation#1i], [b#97#1b], 1773-1779.
44. Wu, S.Y., Fann, C.S., Jou, Y.S., Chen, J.W. and Pan, W.H. (2002) Association between markers in chromosomal region 17q23 and young onset hypertension: A TDT study. [i#J. Med. Genet.#1i], [b#39#1b], 42-44.
45. Letizia, C., d'Ambrosio, C., De Ciocchis, A., Scavo, D. and Pozzilli, P. (1995) Serum angiotensin-converting enzyme levels in patients with recent-onset insulin-dependent diabetes after one year of low-dose cyclosporin therapy. IMDIAB Study Group. [i#Int. J. Clin. Pharmacol. Res.#1i], [b#15#1b], 209-213.
46. Taillon-Miller, P., Saccone, S.F., Saccone, N.L., Duan, S., Kloss, E.F., Lovins, E.G., Donaldson, R., Phong, A., Ha, C., Flagstad, L. [i#et al.#1i] (2004) Linkage disequilibrium maps constructed with common SNPs are useful for first-pass disease association screens. [i#Genomics#1i], [b#84#1b] 899-912.
47. Kohler, H.P. and Grant, P.J. (2000) Plasminogen-activator inhibitor type 1 and coronary artery disease. [i#N. Engl. J. Med.#1i], [b#342#1b], 1792-1801.
48. Task Force on Blood Pressure Control in Children and National Heart Lung, and Blood Institute, Bethesda, Maryland (1987) Report of the Second Task Force on Blood Pressure Control in Children - 1987. [i#Pediatrics#1i], [b#79#1b], 1-25.
49. National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents (1996) Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: A working group report from the National High Blood Pressure Education Program. [i#Pediatrics#1i], [b#98#1b], 649-658.
50. Report of the International Study of Kidney Disease in Children (1981) Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. [i#Kidney Int.#1i], [b#20#1b], 765-771.
51. Report of the International study of Kidney Disease in Children (1974) Prospective, controlled trial of cyclophosphamide therapy in children with nephrotic syndrome. [i#Lancet#1i], [b#2#1b], 423-427.
52. Lo, Y.M., Patel, P., Newton, C.R., Markham, A.F., Fleming, K.A. and Wainscoat, J.S. (1991) Direct haplotype determination by double ARMS: specificity, sensitivity and genetic applications. [i#Nucleic Acids Res.#1i] [b#19#1b], 3561-3567.
53. Newton, C.R., Graham, A., Heptinstall, L.E., Powell, S.J., Summers, C., Kalsheker, N., Smith, J.C. and Markham, A.F. (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). [i#Nucleic Acids Res.#1i], [b#17#1b], 2503-2516.
54. Lindpaintner, K., Pfeffer, M.A., Kreutz, R., Stampfer, M.J., Grodstein, F., LaMotte, F., Buring, J. and Hennekens, C.H. (1995) A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease. [i#N. Engl. J. Med.#1i], [b#332#1b], 706-711.
55. Russ, A.P., Maerz, W., Ruzicka, V., Stein, U. and Gross, W. (1993) Rapid detection of the hypertension-associated Met235 → Thr allele of the human angiotensinogen gene. [i#Hum. Mol. Genet.#1i], [b#2#1b], 609-610.
56. Margaglione, M., Grandone, E., Cappucci, G., Colaizzo, D., Giuliani, N., Vecchione, G., d'Addedda, M. and Di Minno, G. (1997) An alternative method for PAI-1 promoter polymorphism (4G/5G) typing. [i#Thromb. Haemost.#1i], [b#77#1b], 605-606.
57. Stephens, M. and Donnelly, P. (2003) A comparison of Bayesian methods for haplotype reconstruction from population genotype data. [i#Am. J. Hum. Genet.#1i], [b#73#1b], 1162-1169.
58. Stephens, M., Smith, N.J. and Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. [i#Am. J. Hum. Genet.#1i], [b#68#1b], 978-989.
59. Slatkin, M., Excoffier, L. and Roessli, D. (2000) [i#Arlequin: A Software for Population Genetics Data Analysis#1i], 2nd ed. Genetics and Biometry Laboratory, University of Geneva, Switzerland.
60. Lewontin, R.C. (1964) The interaction of selection and linkage. I. General considerations: Heterotic models. [i#Genetics#1i], [b#49#1b], 49-67.
61. Lieberman, J. (1975) Elevation of serum angiotensin-converting-enzyme (ACE) level in sarcoidosis. [i#Am. J. Med.#1i], [b#59#1b], 365-372.