(Circulation. 1997;95:2603-2606.)
© 1997 American Heart Association, Inc.
Articles |
Mapping of Familial Primary Pulmonary Hypertension Locus (PPH1) to Chromosome 2q31-q32
From the Departments of Medicine (J.H.M.), Neurology (A.C.J., T.G.N.), Pediatrics (R.J.B.), and Psychiatry (S.E.H.), Columbia University College of Physicians and Surgeons, New York, NY; Columbia University School of Public Health and New York State Psychiatric Institute, New York, NY (S.E.H.); and Department of Neurology, University of California, San Francisco (K.C.W.).
Correspondence to Dr Jane H. Morse, Columbia University College of Physicians and Surgeons, 630 W 168th St, PH8W-879, New York, NY 10032. E-mail jhm4{at}columbia.edu
Background The pathogenesis of primary pulmonary hypertension (PPH) is unknown, although in some instances families with multiple affected members suggest a genetic etiology.
Methods and Results We used microsatellite markers and linkage analysis in a large family with PPH to determine the chromosomal location of their disease gene. We tested a second, ethnically distinct, family for cosegregation of disease with markers from the linked region. We mapped the disease locus PPH1; GDB/HUGO designation (GDB:1381541; July 1996), approved when this work was accepted for publication in abstract form (Circulation. 1996;94[suppl I]:I-49.), in these families to a 27-cM region on chromosome 2q31-q32, with a maximum lod score of 3.87 associated with markers D2S350 and D2S364.
Conclusions Cosegregation of this region with disease in different ethnic groups suggests that we mapped an important locus in familial PPH. Careful study of additional families and sporadic cases will be required to confirm this localization of PPH1 and characterize its overall role.
Key Words: hypertension, pulmonary • genetics • mapping
This article has been cited by other articles:
 |
|
 |
|
  N. H. Robin, P. B. Tabereaux, R. Benza, and B. R. Korf Genetic Testing in Cardiovascular Disease J. Am. Coll. Cardiol., August 21, 2007; 50(8): 727 - 737. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. R. Klinger Pulmonary Arterial Hypertension: An Overview Seminars in Cardiothoracic and Vascular Anesthesia, June 1, 2007; 11(2): 96 - 103. [Abstract] [PDF]
|
|
|
|
 |
|
 S. Rich The current treatment of pulmonary arterial hypertension: time to redefine success. Chest, October 1, 2006; 130(4): 1198 - 1202. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Zaiman, I. Fijalkowska, P. M. Hassoun, and R. M. Tuder One Hundred Years of Research in the Pathogenesis of Pulmonary Hypertension Am. J. Respir. Cell Mol. Biol., November 1, 2005; 33(5): 425 - 431. [Full Text] [PDF]
|
|
|
|
 |
|
 R Koehler, E Grunig, M W Pauciulo, M M Hoeper, H Olschewski, H Wilkens, M Halank, J Winkler, R Ewert, H Bremer, et al. Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension J. Med. Genet., December 1, 2004; 41(12): e127 - e127. [Full Text] [PDF]
|
|
|
|
|
|
J. H. Newman, R. C. Trembath, J. A. Morse, E. Grunig, J. E. Loyd, S. Adnot, F. Coccolo, C. Ventura, J. A. Phillips III, J. A. Knowles, et al. Genetic basis of pulmonary arterial hypertension: Current understanding and future directions J. Am. Coll. Cardiol., June 16, 2004; 43(12_Suppl_S): 33S - 39S. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. Eickelberg, M. E Yeager, and F. Grimminger The tantalizing triplet of pulmonary hypertension--BMP receptors, serotonin receptors, and angiopoietins Cardiovasc Res, December 1, 2003; 60(3): 465 - 467. [Full Text] [PDF]
|
|
|
|
|
|
M. Rindermann, E. Grunig, A. von Hippel, R. Koehler, G. Miltenberger-Miltenyi, D. Mereles, K. Arnold, M. Pauciulo, W. Nichols, H. Olschewski, et al. Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31 J. Am. Coll. Cardiol., June 18, 2003; 41(12): 2237 - 2244. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. van den Driesche, C. L. Mummery, and C. J.J. Westermann Hereditary hemorrhagic telangiectasia: an update on transforming growth factor {beta} signaling in vasculogenesis and angiogenesis Cardiovasc Res, April 1, 2003; 58(1): 20 - 31. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J H Morse Genetic studies of pulmonary arterial hypertension Lupus, March 1, 2003; 12(3): 209 - 212. [Abstract] [PDF]
|
|
|
|
|
|
R. Budhiraja and P. M. Hassoun Portopulmonary Hypertension: A Tale of Two Circulations Chest, February 1, 2003; 123(2): 562 - 576. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Humbert, Z. Deng, G. Simonneau, R.J. Barst, O. Sitbon, M. Wolf, N. Cuervo, K.J. Moore, S.E. Hodge, J.A. Knowles, et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives Eur. Respir. J., September 1, 2002; 20(3): 518 - 523. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. N. Bugnone, M. Viamonte Jr, and H. Garcia Imaging Findings in Human Immunodeficiency Virus-related Pulmonary Hypertension: Report of Five Cases and Review of the Literature Radiology, June 1, 2002; 223(3): 820 - 827. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. E. Loyd Genetics and Gene Expression in Pulmonary Hypertension : Parker B. Francis Lecture Chest, March 1, 2002; 121(2007): 46S - 50S. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. H. Morse Bone Morphogenetic Protein Receptor 2 Mutations in Pulmonary Hypertension Chest, March 1, 2002; 121(2007): 50S - 53S. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. C. Trembath, J. R. Thomson, R. D. Machado, N. V. Morgan, C. Atkinson, I. Winship, G. Simonneau, N. Galie, J. E. Loyd, M. Humbert, et al. Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia N. Engl. J. Med., August 2, 2001; 345(5): 325 - 334. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R.M. Tuder, M.E. Yeager, M. Geraci, H.A. Golpon, and N.F. Voelkel Severe pulmonary hypertension after the discovery of the familial primary pulmonary hypertension gene Eur. Respir. J., June 1, 2001; 17(6): 1065 - 1069. [Full Text] [PDF]
|
|
|
|
 |
|
 J R Thomson and R C Trembath Primary pulmonary hypertension: the pressure rises for a gene J. Clin. Pathol., December 1, 2000; 53(12): 899 - 903. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Archer and S. Rich Primary Pulmonary Hypertension : A Vascular Biology and Translational Research "Work in Progress" Circulation, November 28, 2000; 102(22): 2781 - 2791. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Kereveur, J. Callebert, M. Humbert, P. Herve, G. Simonneau, J.-M. Launay, and L. Drouet High Plasma Serotonin Levels in Primary Pulmonary Hypertension : Effect of Long-Term Epoprostenol (Prostacyclin) Therapy Arterioscler. Thromb. Vasc. Biol., October 1, 2000; 20(10): 2233 - 2239. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. R Thomson, R. D Machado, M. W Pauciulo, N. V Morgan, M. Humbert, G. C Elliott, K. Ward, M. Yacoub, G. Mikhail, P. Rogers, et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family J. Med. Genet., October 1, 2000; 37(10): 741 - 745. [Abstract] [Full Text]
|
|
|
|
|
|
E. Grunig, B. Janssen, D. Mereles, U. Barth, M. M. Borst, I. R. Vogt, C. Fischer, H. Olschewski, H. F. Kuecherer, and W. Kubler Abnormal Pulmonary Artery Pressure Response in Asymptomatic Carriers of Primary Pulmonary Hypertension Gene Circulation, September 5, 2000; 102(10): 1145 - 1150. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W.-C. Hsueh, B. D. Mitchell, J. L. Schneider, M. J. Wagner, C. J. Bell, E. Nanthakumar, and A. R. Shuldiner QTL Influencing Blood Pressure Maps to the Region of PPH1 on Chromosome 2q31-34 in Old Order Amish Circulation, June 20, 2000; 101(24): 2810 - 2816. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Z. DENG, F. HAGHIGHI, L. HELLEBY, K. VANTERPOOL, E. M. HORN, R. J. BARST, S. E. HODGE, J. H. MORSE, and J. A. KNOWLES Fine Mapping of PPH1, a Gene for Familial Primary Pulmonary Hypertension, to a 3-cM Region on Chromosome 2q33 Am. J. Respir. Crit. Care Med., March 1, 2000; 161(3): 1055 - 1059. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Langleben, E. Lamoureux, F. Marcotte, R. Schlesinger, L. Dragatakis, M. J. Crowe, Y. Langlois, F. Lemire, and M. White Mitral stenosis obscuring the diagnosis of plexogenic pulmonary arteriopathy and familial pulmonary hypertension Thorax, March 1, 2000; 55(3): 247 - 248. [Abstract] [Full Text]
|
|
|
|
|
|
A J Peacock Rare diseases bullet 5: Primary pulmonary hypertension Thorax, December 1, 1999; 54(12): 1107 - 1118. [Full Text]
|
|
|
|
|
|
J. H Morse, E. M Horn, and R. J Barst Hormone Replacement Therapy : A Possible Risk Factor in Carriers of Familial Primary Pulmonary Hypertension Chest, September 1, 1999; 116(3): 847 - 847. [Full Text] [PDF]
|
|
|
|
|
|
F. C. Arnett High-Altitude Pulmonary Edema : An Immunogenetically Mediated Disease? Circulation, March 31, 1998; 97(12): 1111 - 1113. [Full Text] [PDF]
|
|