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Toma C, Torrico B, Hervás A, et al. Common and rare variants of microRNA genes in autism spectrum disorders. World J Biol Psychiatry. 2015;16(6):376-386doi: 10.3109/15622975.2015.1029518.
Toma, C., Torrico, B., Hervás, A., Salgado, M., Rueda, I., Valdés-Mas, R., Buitelaar, J. K., Rommelse, N., Franke, B., Freitag, C., Reif, A., Pérez-Jurado, L. A., Battaglia, A., Mazzone, L., Bacchelli, E., Puente, X. S., & Cormand, B. (2015). Common and rare variants of microRNA genes in autism spectrum disorders. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, 16(6), 376-386. https://doi.org/10.3109/15622975.2015.1029518
Toma, Claudio, et al. "Common and rare variants of microRNA genes in autism spectrum disorders." The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry vol. 16,6 (2015): 376-386. doi: https://doi.org/10.3109/15622975.2015.1029518
Toma C, Torrico B, Hervás A, Salgado M, Rueda I, Valdés-Mas R, Buitelaar JK, Rommelse N, Franke B, Freitag C, Reif A, Pérez-Jurado LA, Battaglia A, Mazzone L, Bacchelli E, Puente XS, Cormand B. Common and rare variants of microRNA genes in autism spectrum disorders. World J Biol Psychiatry. 2015 Sep;16(6):376-386. doi: 10.3109/15622975.2015.1029518. Epub 2015 Apr 23. PMID: 25903372.
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World J Biol Psychiatry. 2015 Sep;16(6):376-386. doi: 10.3109/15622975.2015.1029518. Epub 2015 Apr 23.

Common and rare variants of microRNA genes in autism spectrum disorders.

The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry

Claudio Toma, Bàrbara Torrico, Amaia Hervás, Marta Salgado, Isabel Rueda, Rafael Valdés-Mas, Jan K Buitelaar, Nanda Rommelse, Barbara Franke, Christine Freitag, Andreas Reif, Luis Alberto Pérez-Jurado, Agatino Battaglia, Luigi Mazzone, Elena Bacchelli, Xose S Puente, Bru Cormand

Affiliations

  1. a Departament de Genètica, Universitat de Barcelona , Spain.
  2. b Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Spain.
  3. c Child and Adolescent Mental Health Unit, Hospital Universitari Mútua de Terrassa , Spain.
  4. d Developmental Disorders Unit (UETD), Hospital Sant Joan de Déu, Esplugues de Llobregat , Barcelona , Spain.
  5. e Department of Biochemistry and Molecular Biology , University of Oviedo-IUOPA , Spain.
  6. f Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Department of Cognitive Neuroscience , Nijmegen , The Netherlands.
  7. g Karakter Child and Adolescent Psychiatry University Centre , Nijmegen , The Netherlands.
  8. h Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Department of Psychiatry , Nijmegen , The Netherlands.
  9. i Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics , Nijmegen , The Netherlands.
  10. j Department of Psychiatry , Psychosomatic Medicine and Psychotherapy, University Hospital , Frankfurt , Germany.
  11. k Department of Psychiatry , Psychosomatics, and Psychotherapy, University of Wuerzburg , Germany.
  12. l Unitat de Genètica, Universitat Pompeu Fabra , Barcelona , Spain.
  13. m Hospital del Mar Research Institute, IMIM , Barcelona , Spain.
  14. n Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry , Calambrone, Pisa , Italy.
  15. o Child Neuropsychiatry Unit, Department of Neuroscience , I.R.C.C.S. Children's Hospital Bambino Gesù , Rome , Italy.
  16. p Department of Pharmacy and Biotechnology , University of Bologna , Italy.
  17. q Institut de Biomedicina de la Universitat de Barcelona (IBUB) , Spain.

PMID: 25903372 DOI: 10.3109/15622975.2015.1029518

Abstract

OBJECTIVES: MicroRNAs (miRNAs) are post-transcriptional regulators that have been shown to be involved in disease susceptibility. Here we explore the possible contribution of common and rare variants in miRNA genes in autism spectrum disorders (ASD).

METHODS: A total of 350 tag SNPs from 163 miRNA genes were genotyped in 636 ASD cases and 673 controls. A replication study was performed in a sample of 449 ASD cases and 415 controls. Additionally, rare variants in 701 miRNA genes of 41 ASD patients were examined using whole-exome sequencing.

RESULTS: The most significant association in the discovery sample was obtained for the miR-133b/miR-206 cluster (rs16882131, P = 0.00037). The replication study did not reach significance. However, the pooled analysis (1,085 cases and 1,088 controls) showed association with two miRNA clusters: miR-133b/miR-206 (rs16882131, permP = 0.037) and miR-17/miR-18a/miR-19a/miR-20a/miR-19b-1/miR92a-1 (rs6492538, permP = 0.019). Both miR-133b and miR-206 regulate the MET gene, previously associated with ASD. Rare variant analysis identified mutations in several miRNA genes, among them miR-541, a brain-specific miRNA that regulates SYN1, found mutated in ASD.

CONCLUSIONS: Although our results do not establish a clear role for miRNAs in ASD, we pinpointed a few candidate genes. Further exome and GWAS studies are warranted to get more insight into their potential contribution to the disorder.

Keywords: MicroRNAs; autistic disorder; biological psychiatry; exome; genetic association studies

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