Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

Fiche publication

Date publication

janvier 2020

Journal

EBioMedicine

Auteurs

Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis , Dr NAMOUR Bernard , Dr OUSSALAH Abderrahim

Tous les auteurs :
Oussalah A, Jeannesson-Thivisol E, Chéry C, Perrin P, Rouyer P, Josse T, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, De Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Rodriguez-Guéant RM, Feillet F, Guéant JL, Namour F

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/31923802

Résumé

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichment according to geographical areas and patients' ethnicity using a multiethnic nationwide cohort of patients with PKU in France. We subsequently appraised the population differentiation, balancing selection and the molecular evolutionary history of the PAH locus.