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Mutation burden of rare variants in schizophrenia candidate genes

Girard Simon, Dion P. A., Bourassa C. V., Geoffroy S., Lachance-Touchette P., Barhdadi A., Langlois M., Joober R., Krebs M. O., Dube M. P. et Rouleau G. A.. (2015). Mutation burden of rare variants in schizophrenia candidate genes. PLoS ONE, 10, (6-e0128988), p. 1-11.

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URL officielle: http://dx.doi.org/doi:10.1371/journal.pone.0128988

Résumé

BACKGROUND: Schizophrenia (SCZ) is a very heterogeneous disease that affects approximately 1% of the general population. Recently, the genetic complexity thought to underlie this condition was further supported by three independent studies that identified an increased number of damaging de novo mutations DNM in different SCZ probands. While these three reports support the implication of DNM in the pathogenesis of SCZ, the absence of overlap in the genes identified suggests that the number of genes involved in SCZ is likely to be very large; a notion that has been supported by the moderate success of Genome-Wide Association Studies (GWAS).

METHODS: To further examine the genetic heterogeneity of this disease, we resequenced 62 genes that were found to have a DNM in SCZ patients, and 40 genes that encode for proteins known to interact with the products of the genes with DNM, in a cohort of 235 SCZ cases and 233 controls.

RESULTS: We found an enrichment of private nonsense mutations amongst schizophrenia patients. Using a kernel association method, we were able to assess for association for different sets. Although our power of detection was limited, we observed an increased mutation burden in the genes that have DNM.

Type de document:Article publié dans une revue avec comité d'évaluation
ISSN:1932-6203 (Electronic) 1932-6203 (Linking)
Volume:10
Numéro:6-e0128988
Pages:p. 1-11
Version évaluée par les pairs:Oui
Date:2015
Sujets:Sciences de la santé > Sciences médicales > Génétique
Département, module, service et unité de recherche:Départements et modules > Département des sciences fondamentales
Mots-clés:Schizophrenia, genetics, single nucleotide polymorphisms, SNPs, de novo mutations
Déposé le:30 août 2019 00:14
Dernière modification:30 août 2019 00:14
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