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HTAP: discovery of a genetic market associated with increased risk

18 Mar 2013 | By Inserm (Newsroom) | Circulation, metabolism, nutrition


A genetic marker localised on chromosome 18 is associated with a doubling of the risk of pulmonary arterial hypertension (PAH). A gene close to this marker is suspected of being responsible for an increased risk of the disease, according to an academic study (letter) published in Nature Genetics* on 17 March 2013.

PAH is a rare but severe condition that specifically affects the small arteries of the lung and causes serious heart failure. The condition is more like to affect young women and occurs without explanation in 50% of cases. Apart from mutations mainly identified in family forms of the condition, other genetic predisposition factors are as yet little understood.

This result was obtained through research performed by three French teams which involved collaboration in Europe and the United States. By studying patients suffering from PAH who were being treated by pneumologists at the French national PAH reference centre at the Bicêtre Hospital (team headed by Professors Gérald Simonneau and Marc Humbert, AP-HP, UMRS 999, Université Paris-Sud, INSERM, DHU-TORINO), geneticists (Professor Florent Soubrier’s team, UMRS 956) and biostatisticians (Dr David Tregouët’s team, UMRS 937) at the Pitié-Salpêtrière Hospital (AP-HP, Université Pierre and Marie Curie, IHU-ICAN) implemented a genetic analysis covering several hundred cases and control subjects. The analysis used DNA chip techniques that made it possible to study hundreds of thousands of genetic markers simultaneously that are distributed throughout the genome.

Thanks to international collaboration, these researchers were able to show the existence of a genetic marker situated on chromosome 18, the presence of which makes an individual twice as likely to contract PAH.

The marker is situated close to a gene which, according to the preliminary work conducted by these researchers, may participate in a vascular regulatory system that has so far not been described.

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Nature Genetic, Published online the 17 march 2013