21 novembre 2014

Analyse de l'association et du reséquençage de PTPRA, une gène de susceptibilité possible pour la schizophrénie et les troubles du spectre autistique

Traduction: G.M.

PLoS One. 2014 Nov 13;9(11):e112531. doi: 10.1371/journal.pone.0112531. eCollection 2014.

Resequencing and Association Analysis of PTPRA, a Possible Susceptibility Gene for Schizophrenia and Autism Spectrum Disorders



The PTPRA gene, which encodes the protein RPTP-α, is critical to neurodevelopment. Previous linkage studies, genome-wide association studies, controlled expression analyses and animal models support an association with both schizophrenia and autism spectrum disorders, both of which share a substantial portion of genetic risks.
Le gène PTPRA, qui code pour la protéine RPTP-α, est critique pour le développement neurologique. Des études précédentes de liaisons , des études d'association pangénomique, des analyses de l'expression contrôlée et des modèles animaux confirment une association à la fois avec la schizophrénie et les troubles du spectre autistique, qui tous deux partagent une partie importante des risques génétiques.


We sequenced the protein-encoding areas of the PTPRA gene for single nucleotide polymorphisms or small insertions/deletions (InDel) in 382 schizophrenia patients. To validate their association with the disorders, rare (minor allele frequency <1%), missense mutations as well as one InDel in the 3'UTR region were then genotyped in another independent sample set comprising 944 schizophrenia patients, 336 autism spectrum disorders patients, and 912 healthy controls.


Eight rare mutations, including 3 novel variants, were identified during the mutation-screening phase. In the following association analysis, L59P, one of the two missense mutations, was only observed among patients of schizophrenia. Additionally, a novel duplication in the 3'UTR region, 174620_174623dupTGAT, was predicted to be located within a Musashi Binding Element.


No evidence was seen for the association of rare, missense mutations in the PTPRA gene with schizophrenia or autism spectrum disorders; however, we did find some rare variants with possibly damaging effects that may increase the susceptibility of carriers to the disorders.
Aucune preuve n'a été observée pour l'association de rares mutations faux-sens dans le gène PTPRA avec la schizophrénie ou les troubles du spectre autistique; Cependant, nous avons trouvé des variantes rares avec des effets éventuellement néfastes qui peuvent augmenter la sensibilité pour les porteurs de troubles.
PMID: 25393624

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