메뉴 건너뛰기




Volumn 79, Issue 4, 2010, Pages 279-287

Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: Relation to clinical parameters and comparison with left heart disease

Author keywords

Bone morphogenetic protein; Chronic thromboembolic pulmonary hypertension; Genetics; Idiopathic pulmonary arterial hypertension; Nitric oxide; Pulmonary hypertension; Serotonin

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 2; ENDOTHELIAL NITRIC OXIDE SYNTHASE; NITRIC OXIDE; SEROTONIN; SEROTONIN 2A RECEPTOR; SEROTONIN TRANSPORTER;

EID: 77949270239     PISSN: 00257931     EISSN: None     Source Type: Journal    
DOI: 10.1159/000250322     Document Type: Article
Times cited : (28)

References (54)
  • 4
    • 0028844334 scopus 로고
    • Cellular and molecular mechanisms in the pathogenesis of severe pulmonary hypertension
    • Voelkel NF, Tuder RM: Cellular and molecular mechanisms in the pathogenesis of severe pulmonary hypertension. Eur Respir J 1995;8:2129-2138.
    • (1995) Eur Respir J , vol.8 , pp. 2129-2138
    • Voelkel, N.F.1    Tuder, R.M.2
  • 8
    • 0037331512 scopus 로고    scopus 로고
    • Prostacyclin therapy before pulmonary thrombo-endarterectomy in patients with chronic thromboembolic pulmonary hypertension
    • Nagaya N, Sasaki N, Ando M, Ogino H, Sakamaki F, Kyotani S, Nakanishi N: Prostacyclin therapy before pulmonary thrombo-endarterectomy in patients with chronic thromboembolic pulmonary hypertension. Chest 2003;123:338-343.
    • (2003) Chest , vol.123 , pp. 338-343
    • Nagaya, N.1    Sasaki, N.2    Ando, M.3    Ogino, H.4    Sakamaki, F.5    Kyotani, S.6    Nakanishi, N.7
  • 9
    • 35548969912 scopus 로고    scopus 로고
    • Bosentan therapy for chronic thromboembolic pulmonary hypertension. A national open label study assessing the effect of Bosentan on haemodynamics, exercise capacity, quality of life, safety and tolerability in patients with chronic thromboembolic pulmonary hypertension (BOCTEPH-Study)
    • Ulrich S, Speich R, Domenighetti G, Geiser T, Aubert JD, Rochat T, Huber L, Treder U, Fischler M: Bosentan therapy for chronic thromboembolic pulmonary hypertension. A national open label study assessing the effect of Bosentan on haemodynamics, exercise capacity, quality of life, safety and tolerability in patients with chronic thromboembolic pulmonary hypertension (BOCTEPH-Study). Swiss Med Wkly 2007;137:573-580.
    • (2007) Swiss Med Wkly , vol.137 , pp. 573-580
    • Ulrich, S.1    Speich, R.2    Domenighetti, G.3    Geiser, T.4    Aubert, J.D.5    Rochat, T.6    Huber, L.7    Treder, U.8    Fischler, M.9
  • 10
    • 33748863750 scopus 로고    scopus 로고
    • Chronic thromboembolic and pulmonary arterial hypertension share acute vasoreactivity properties
    • Ulrich S, Fischler M, Speich R, Popov V, Maggiorini M: Chronic thromboembolic and pulmonary arterial hypertension share acute vasoreactivity properties. Chest 2006;130:841-846.
    • (2006) Chest , vol.130 , pp. 841-846
    • Ulrich, S.1    Fischler, M.2    Speich, R.3    Popov, V.4    Maggiorini, M.5
  • 11
    • 0027465172 scopus 로고
    • Pulmonary vascular lesions occurring in patients with chronic major vessel thromboembolic pulmonary hypertension
    • Moser KM, Bloor CM: Pulmonary vascular lesions occurring in patients with chronic major vessel thromboembolic pulmonary hypertension. Chest 1993;103:685-692.
    • (1993) Chest , vol.103 , pp. 685-692
    • Moser, K.M.1    Bloor, C.M.2
  • 12
    • 0033817459 scopus 로고    scopus 로고
    • Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium
    • Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC: Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet 2000;26:81-84.
    • (2000) Nat Genet , vol.26 , pp. 81-84
    • Lane, K.B.1    Machado, R.D.2    Pauciulo, M.W.3    Thomson, J.R.4    Phillips 3rd, J.A.5    Loyd, J.E.6    Nichols, W.C.7    Trembath, R.C.8
  • 14
    • 0035797529 scopus 로고    scopus 로고
    • Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred
    • Newman JH, Wheeler L, Lane KB, Loyd E, Gaddipati R, Phillips JA 3rd, Loyd JE: Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. N Engl J Med 2001;345:319-324.
    • (2001) N Engl J Med , vol.345 , pp. 319-324
    • Newman, J.H.1    Wheeler, L.2    Lane, K.B.3    Loyd, E.4    Gaddipati, R.5    Phillips 3rd, J.A.6    Loyd, J.E.7
  • 15
    • 45149132191 scopus 로고    scopus 로고
    • Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: Implications for familial pulmonary arterial hypertension
    • Yang J, Davies RJ, Southwood M, Long L, Yang X, Sobolewski A, Upton PD, Trembath RC, Morrell NW: Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: implications for familial pulmonary arterial hypertension. Circ Res 2008;102:1212-1221.
    • (2008) Circ Res , vol.102 , pp. 1212-1221
    • Yang, J.1    Davies, R.J.2    Southwood, M.3    Long, L.4    Yang, X.5    Sobolewski, A.6    Upton, P.D.7    Trembath, R.C.8    Morrell, N.W.9
  • 16
    • 44349101103 scopus 로고    scopus 로고
    • Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension
    • Nasim MT, Ghouri A, Patel B, James V, Rudarakanchana N, Morrell NW, Trembath RC: Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension. Hum Mol Genet 2008;17:1683-1694.
    • (2008) Hum Mol Genet , vol.17 , pp. 1683-1694
    • Nasim, M.T.1    Ghouri, A.2    Patel, B.3    James, V.4    Rudarakanchana, N.5    Morrell, N.W.6    Trembath, R.C.7
  • 19
    • 40049100690 scopus 로고    scopus 로고
    • Narrative review: The enigma of pulmonary arterial hypertension: new insights from genetic studies
    • Newman JH, Phillips JA 3rd, Loyd JE: Narrative review: the enigma of pulmonary arterial hypertension: new insights from genetic studies. Ann Intern Med 2008;148:278-283.
    • (2008) Ann Intern Med , vol.148 , pp. 278-283
    • Newman, J.H.1    Phillips 3rd, J.A.2    Loyd, J.E.3
  • 26
    • 0036014810 scopus 로고    scopus 로고
    • Is the serotonin transporter involved in the pathogenesis of pulmonary hypertension?
    • Eddahibi S, Raffestin B, Hamon M, Adnot S: Is the serotonin transporter involved in the pathogenesis of pulmonary hypertension? J Lab Clin Med 2002;139:194-201.
    • (2002) J Lab Clin Med , vol.139 , pp. 194-201
    • Eddahibi, S.1    Raffestin, B.2    Hamon, M.3    Adnot, S.4
  • 29
    • 0026657470 scopus 로고
    • Sub-types of serotonin receptors: Biochemical changes and pharmacological consequences
    • Leonard BE: Sub-types of serotonin receptors: biochemical changes and pharmacological consequences. Int Clin Psychopharmacol 1992;7:13-21.
    • (1992) Int Clin Psychopharmacol , vol.7 , pp. 13-21
    • Leonard, B.E.1
  • 30
    • 0035033623 scopus 로고    scopus 로고
    • Association study of the 5-HT(2A) receptor gene polymorphism, T102C and essential hypertension
    • Liolitsa D, Powell JF, Prince M, Lovestone S: Association study of the 5-HT(2A) receptor gene polymorphism, T102C and essential hypertension. J Hum Hypertens 2001;15:335-339.
    • (2001) J Hum Hypertens , vol.15 , pp. 335-339
    • Liolitsa, D.1    Powell, J.F.2    Prince, M.3    Lovestone, S.4
  • 32
    • 0034181950 scopus 로고    scopus 로고
    • T102C polymorphism of the serotonin (5-HT) 2A receptor gene in patients with non-fatal acute myocardial infarction
    • Yamada S, Akita H, Kanazawa K, Ishida T, Hirata K, Ito K, Kawashima S, Yokoyama M: T102C polymorphism of the serotonin (5-HT) 2A receptor gene in patients with non-fatal acute myocardial infarction. Atherosclerosis 2000;150:143-148.
    • (2000) Atherosclerosis , vol.150 , pp. 143-148
    • Yamada, S.1    Akita, H.2    Kanazawa, K.3    Ishida, T.4    Hirata, K.5    Ito, K.6    Kawashima, S.7    Yokoyama, M.8
  • 34
    • 0029055964 scopus 로고
    • Reduced expression of endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension
    • Giaid A, Saleh D: Reduced expression of endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension. N Engl J Med 1995;333:214-221.
    • (1995) N Engl J Med , vol.333 , pp. 214-221
    • Giaid, A.1    Saleh, D.2
  • 35
    • 1642368920 scopus 로고    scopus 로고
    • Endothelial nitric oxide synthase genotype and ischemic heart disease: Meta-analysis of 26 studies involving 23,028 subjects
    • Casas JP, Bautista LE, Humphries SE, Hingorani AD: Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studies involving 23,028 subjects. Circulation 2004;109:1359-1365.
    • (2004) Circulation , vol.109 , pp. 1359-1365
    • Casas, J.P.1    Bautista, L.E.2    Humphries, S.E.3    Hingorani, A.D.4
  • 36
    • 0037072457 scopus 로고    scopus 로고
    • Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema
    • Droma Y, Hanaoka M, Ota M, Katsuyama Y, Koizumi T, Fujimoto K, Kobayashi T, Kubo K: Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema. Circulation 2002;106:826-830.
    • (2002) Circulation , vol.106 , pp. 826-830
    • Droma, Y.1    Hanaoka, M.2    Ota, M.3    Katsuyama, Y.4    Koizumi, T.5    Fujimoto, K.6    Kobayashi, T.7    Kubo, K.8
  • 37
    • 33751236205 scopus 로고    scopus 로고
    • Heterozygotes of NOS3 polymorphisms contribute to reduced nitrogen oxides in high-altitude pulmonary edema
    • Ahsan A, Mohd G, Norboo T, Baig MA, Pasha MA: Heterozygotes of NOS3 polymorphisms contribute to reduced nitrogen oxides in high-altitude pulmonary edema. Chest 2006;130:1511-1519.
    • (2006) Chest , vol.130 , pp. 1511-1519
    • Ahsan, A.1    Mohd, G.2    Norboo, T.3    Baig, M.A.4    Pasha, M.A.5
  • 38
    • 33846524379 scopus 로고    scopus 로고
    • Endothelial nitric oxide synthase polymorphisms do not influence pulmonary artery systolic pressure at altitude
    • Smith EM, Baillie JK, Thompson AA, Irving JB, Porteous D, Webb DJ: Endothelial nitric oxide synthase polymorphisms do not influence pulmonary artery systolic pressure at altitude. High Alt Med Biol 2006;7:221-227.
    • (2006) High Alt Med Biol , vol.7 , pp. 221-227
    • Smith, E.M.1    Baillie, J.K.2    Thompson, A.A.3    Irving, J.B.4    Porteous, D.5    Webb, D.J.6
  • 41
    • 2942661490 scopus 로고    scopus 로고
    • Detection of the Arg702Trp, Gly908Arg and Leu1007fsinsC polymorphisms of the NOD2/CARD15 gene by real-time PCR with melting curve analysis
    • Ruegg C, Hersberger M, Wusk B, Rentsch K, Kullak-Ublick GA, von Eckardstein A, Maly FE: Detection of the Arg702Trp, Gly908Arg and Leu1007fsinsC polymorphisms of the NOD2/CARD15 gene by real-time PCR with melting curve analysis. Clin Chem Lab Med 2004;42:494-498.
    • (2004) Clin Chem Lab Med , vol.42 , pp. 494-498
    • Ruegg, C.1    Hersberger, M.2    Wusk, B.3    Rentsch, K.4    Kullak-Ublick, G.A.5    von Eckardstein, A.6    Maly, F.E.7
  • 42
    • 0030048029 scopus 로고    scopus 로고
    • A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide sy nthase gene
    • Wang XL, Sim AS, Badenhop RF, McCredie RM, Wilcken DE: A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide sy nthase gene. Nat Med 1996;2:41-45.
    • (1996) Nat Med , vol.2 , pp. 41-45
    • Wang, X.L.1    Sim, A.S.2    Badenhop, R.F.3    McCredie, R.M.4    Wilcken, D.E.5
  • 44
    • 26844473397 scopus 로고    scopus 로고
    • The Asp298 but not the C-786 genotype of the endothelial nitric oxide synthase is reduced with age in healthy Swiss men
    • Muntwyler J, Marti-Jaun J, Luscher TF, Hanseler E, Hersberger M: The Asp298 but not the C-786 genotype of the endothelial nitric oxide synthase is reduced with age in healthy Swiss men. Clin Chem Lab Med 2005;43:971-973.
    • (2005) Clin Chem Lab Med , vol.43 , pp. 971-973
    • Muntwyler, J.1    Marti-Jaun, J.2    Luscher, T.F.3    Hanseler, E.4    Hersberger, M.5
  • 45
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni L, Chew SL, Krainer AR: Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002;3:285-298.
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 46
    • 0037266518 scopus 로고    scopus 로고
    • Genetic studies of pulmonary arterial hypertension
    • Morse JH: Genetic studies of pulmonary arterial hypertension. Lupus 2003;12:209-212.
    • (2003) Lupus , vol.12 , pp. 209-212
    • Morse, J.H.1
  • 49
    • 35349002697 scopus 로고    scopus 로고
    • Characterization of the BMPR2 5′-untranslated region and a novel mutation in pulmonary hypertension
    • Aldred MA, Machado RD, James V, Morrell NW, Trembath RC: Characterization of the BMPR2 5′-untranslated region and a novel mutation in pulmonary hypertension. Am J Respir Crit Care Med 2007;176:819-824.
    • (2007) Am J Respir Crit Care Med , vol.176 , pp. 819-824
    • Aldred, M.A.1    Machado, R.D.2    James, V.3    Morrell, N.W.4    Trembath, R.C.5
  • 52
    • 4544266023 scopus 로고    scopus 로고
    • BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension
    • Morisaki H, Nakanishi N, Kyotani S, Takashima A, Tomoike H, Morisaki T: BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat 2004;23:632.
    • (2004) Hum Mutat , vol.23 , pp. 632
    • Morisaki, H.1    Nakanishi, N.2    Kyotani, S.3    Takashima, A.4    Tomoike, H.5    Morisaki, T.6
  • 53
    • 77949272806 scopus 로고    scopus 로고
    • Genetic polymorphisms of the serotonin transporter, but not the 2a receptor or nitric oxide synthetase, are associated with pulmonary hypertension in COPD
    • Ulrich S, Hersberger M, Fischler M, Nuss-baumer-Ochsner Y, Treder U, Russi EW, Speich R: Genetic polymorphisms of the serotonin transporter, but not the 2a receptor or nitric oxide synthetase, are associated with pulmonary hypertension in COPD. Respiration 2010;79:288-295.
    • (2010) Respiration , Issue.79 , pp. 288-295
    • Ulrich, S.1    Hersberger, M.2    Fischler, M.3    Nuss-baumer-Ochsner, Y.4    Treder, U.5    Russi, E.W.6    Speich, R.7
  • 54
    • 0031916030 scopus 로고    scopus 로고
    • Nitric oxide synthase gene polymorphisms, blood pressure and aortic stiffness in normotensive and hypertensive subjects
    • Lacolley P, Gautier S, Poirier O, Pannier B, Cambien F, Benetos A: Nitric oxide synthase gene polymorphisms, blood pressure and aortic stiffness in normotensive and hypertensive subjects. J Hypertens 1998;16:31-35.
    • (1998) J Hypertens , vol.16 , pp. 31-35
    • Lacolley, P.1    Gautier, S.2    Poirier, O.3    Pannier, B.4    Cambien, F.5    Benetos, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.