title: Bone morphogenetic protein receptor 2 in patients with idiopathic portal hypertension.
abstract: In idiopathic portal hypertension (IPH) typical vascular lesions are present in the branches of the portal vein or in the perisinusoidal area of the liver. Similar histological alterations have been reported in the pulmonary vasculature of patients with idiopathic pulmonary artery hypertension (IPAH). As IPAH is associated with mutations of the bone morphogenetic protein receptor 2 (BMPR2) gene, the aim of this study was to investigate whether this association might also be found in patients with IPH. Twenty-three samples belonging to 21 unrelated caucasian patients with IPH followed in the hepatic haemodynamic laboratory of the Hospital Clinic in Barcelona were included in the study. All patients were studied for the entire open reading frame and splice site of the BMPR2 gene by direct sequencing and multiple ligation probe amplification (MLPA) in order to detect large deletions/duplications. None of the 23 patients had pulmonary artery hypertension. Four patients presented one single nucleotide polymorphism (SNP) in intron 5, four patients had a SNP in exon 12 and a SNP in exon 1 was found in two cases. Two patients had both intron 5 and exon 12 polymorphisms. All SNPs were previously described. Except for these three SNPs, neither mutations nor rearrangements have been identified in the BMPR2 gene in this population. We did not detect mutations or rearrangements in the coding region of the BMPR2 gene in our patients with IPH. These findings suggest that, in contrast to IPAH, mutations in BMPR2 are not involved in the pathogenesis of IPH.
authors: Hepatic Hemodynamic Laboratory, Liver Unit, Institut d'Investigacions Biomédiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain.
authors: Andrea
authors: A
authors: De Gottardi
authors: Susana
authors: S
authors: Seijo
authors: Montserrat
authors: M
authors: Milá
authors: M Isabel
authors: MI
authors: Alvarez
authors: Miquel
authors: M
authors: Bruguera
authors: Juan G
authors: JG
authors: Abraldes
authors: Jaime
authors: J
authors: Bosch
authors: Juan-Carlos
authors: JC
authors: García-Pagán
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics* / Q000378:metabolism; D002648:Child; D005091:Exons; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D006975:Hypertension, Portal / Q000235:genetics* / Q000503:physiopathology; D007438:Introns; D008103:Liver Cirrhosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D009154:Mutation; D010198:Pancytopenia / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D013163:Splenomegaly / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult; D000094724:Idiopathic Noncirrhotic Portal Hypertension
chemical_list: D012313:RNA; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II