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Koumakis, Eugénie; Wipff, Julien; Dieudé, Philippe; Ruiz, Barbara; Bouaziz, Matthieu; Revillod, Lucile; Guedj, Mickaël; Distler, Jörg H W; Matucci-Cerinic, Marco; Humbert, Marc; Riemekasten, Gabriella; Airo, Paolo; Melchers, Inga; Hachulla, Eric; Cusi, Daniele; Wichmann, H- Erich; Hunzelmann, Nicolas; Tiev, Kiet; Caramaschi, Paola; Diot, Elisabeth; Kowal-Bielecka, Otylia; Cuomo, Giovanna; Walker, Ulrich; Czirjak, Laszló; Damjanov, Nemanja; Lupoli, Sara; Conti, Costanza; Muller-Nurasyid, Martina; Muller-Ladner, Ulf; Riccieri, Valeria; Cracowski, Jean-Luc; Cozzi, Franco; Bournia, Vasiliki Kalliopi; Vlachoyiannopoulos, P; Chiocchia, Gilles; Boileau, Catherine; Allanore, Yannick
Annals of the rheumatic diseases, 11/2012, Volume: 71, Issue: 11Journal Article
Introduction Systemic sclerosis (SSc)-related pulmonary arterial hypertension (PAH) has emerged as a major mortality prognostic factor. Mutations of transforming growth factor beta (TGFβ) receptor genes strongly contribute to idiopathic and familial PAH. Objective To explore the genetic bases of SScâeuro"PAH, we combined direct sequencing and genotyping of candidate genes encoding TGFβ receptor family members. Materials and methods TGFβ receptor genes, BMPR2, ALK1 , TGFR2 and ENG , were sequenced in 10 SScâeuro"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 SScâeuro"PAH) and 939 controls. The replication set consisted of 1516 European SSc (including 219 SScâeuro"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 SScâeuro"PAH patients only. The genotyping of 22 SNP including the latter showed that only rs2277382 was associated with SScâeuro"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 TGFβ receptor gene polymorphisms and SScâeuro"PAH using both sequencing and genotyping methods.
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