Koumakis, Eugenie, Wipff, Julien, Dieude, Philippe ORCID: 0000-0002-4814-0307, Ruiz, Barbara, Bouaziz, Matthieu, Revillod, Lucile, Guedj, Mickael, Distler, Joerg H. W., Matucci-Cerinic, Marco, Humbert, Marc ORCID: 0000-0003-0703-2892, Riemekasten, Gabriella, Airo, Paolo, Melchers, Inga, Hachulla, Eric, Cusi, Daniele, Wichmann, H-Erich, Hunzelmann, Nicolas, Tiev, Kiet, Caramaschi, Paola, Diot, Elisabeth, Kowal-Bielecka, Otylia ORCID: 0000-0002-0613-1306, Cuomo, Giovanna ORCID: 0000-0002-4292-3589, Walker, Ulrich, Czirjak, Laszlo, Damjanov, Nemanja, Lupoli, Sara, Conti, Costanza, Mueller-Nurasyid, Martina, Mueller-Ladner, Ulf, Riccieri, Valeria, Cracowski, Jean-Luc, Cozzi, Franco, Bournia, Vasiliki Kalliopi, Vlachoyiannopoulos, P., Chiocchia, Gilles, Boileau, Catherine and Allanore, Yannick (2012). TGF beta receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients. Ann. Rheum. Dis., 71 (11). S. 1900 - 1904. LONDON: BMJ PUBLISHING GROUP. ISSN 0003-4967

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Abstract

Introduction Systemic sclerosis (SSc)-related pulmonary arterial hypertension (PAH) has emerged as a major mortality prognostic factor. Mutations of transforming growth factor beta (TGF beta) receptor genes strongly contribute to idiopathic and familial PAH. Objective To explore the genetic bases of SSc-PAH, we combined direct sequencing and genotyping of candidate genes encoding TGF beta receptor family members. Materials and methods TGF beta receptor genes, BMPR2, ALK1, TGFR2 and ENG, were sequenced in 10 SSc-PAH patients, nine SSc and seven controls. In addition, 22 single-nucleotide polymorphisms (SNP) of these four candidate genes were tested for association in a first set of 824 French Caucasian SSc patients (including 54 SSc-PAH) and 939 controls. The replication set consisted of 1516 European SSc (including 219 SSc-PAH) and 3129 controls from the European League Against Rheumatism Scleroderma Trials and Research group network. Results No mutation was identified by direct sequencing. However, two repertoried SNP, ENG rs35400405 and ALK1 rs2277382, were found in SSc-PAH patients only. The genotyping of 22 SNP including the latter showed that only rs2277382 was associated with SSc-PAH (p=0.0066, OR 2.13, 95% CI 1.24 to 3.65). Nevertheless, this was not replicated with the following result in combined analysis: p=0.123, OR 0.79, 95% CI 0.59 to 1.07. Conclusions This study demonstrates the lack of association between these TGF beta receptor gene polymorphisms and SSc-PAH using both sequencing and genotyping methods.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Koumakis, EugenieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wipff, JulienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dieude, PhilippeUNSPECIFIEDorcid.org/0000-0002-4814-0307UNSPECIFIED
Ruiz, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bouaziz, MatthieuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Revillod, LucileUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guedj, MickaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Distler, Joerg H. W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matucci-Cerinic, MarcoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Humbert, MarcUNSPECIFIEDorcid.org/0000-0003-0703-2892UNSPECIFIED
Riemekasten, GabriellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Airo, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Melchers, IngaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hachulla, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cusi, DanieleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wichmann, H-ErichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tiev, KietUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caramaschi, PaolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diot, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kowal-Bielecka, OtyliaUNSPECIFIEDorcid.org/0000-0002-0613-1306UNSPECIFIED
Cuomo, GiovannaUNSPECIFIEDorcid.org/0000-0002-4292-3589UNSPECIFIED
Walker, UlrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czirjak, LaszloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Damjanov, NemanjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lupoli, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Conti, CostanzaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller-Nurasyid, MartinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller-Ladner, UlfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riccieri, ValeriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cracowski, Jean-LucUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cozzi, FrancoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bournia, Vasiliki KalliopiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vlachoyiannopoulos, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chiocchia, GillesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boileau, CatherineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Allanore, YannickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-480348
DOI: 10.1136/annrheumdis-2012-201755
Journal or Publication Title: Ann. Rheum. Dis.
Volume: 71
Number: 11
Page Range: S. 1900 - 1904
Date: 2012
Publisher: BMJ PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 0003-4967
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
HEREDITARY HEMORRHAGIC TELANGIECTASIA; MUTATIONS; DISEASE; ASSOCIATION; ALK-1Multiple languages
RheumatologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48034

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