The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

Paola Prandini, Alessandra Pasquali, Giovanni Malerba, Andrea Marostica, Chiara Zusi, Luciano Xumerle, Pierandrea Muglia, Lucio Da Ros, Emiliangelo Ratti, Elisabetta Trabetti, Pier Franco Pignatti, Giovanni Allibrio, Maria Cristina Amato, Laura Anchisi, Milena Andruccioli, Pier Antonio Battistella, Sveva Benedetti, Arianna Benvenuto, Flavio Boscaini, Elisabetta CanettaAlessandra Cangini, Sara Conti, Paolo Curatolo, Bernardo Dalla Bernardina, Andrea De Giacomo, Grazia Distefano, Maria Letizia Di Stefano, Giuseppa Di Vita, Maurizio Elia, Filippo Gitti, Serenella Grittani, Mariaelena Lafortezza, Anna Linda Lamanna, Elisa Mani, Barbara Manzi, Lucia Margari, Maria Marino, Gabriele Masi, Massimo Molteni, Franco Nardocci, Antonia Parmeggiani, Antonio Pascotto, Mara Patrini, Paola Pias, Tiziana Piroddi, Sara Poledri, Miriam Polizzi, Maria Cristina Porfirio, Annio Posar, Maria Pia Riccio, Sebastiano Russo, Elisa Santocchi, Margherita Santucci, Renato Scifo, Raffaella Tancredi, Maria Rita Tedde, Alessandra Tiberti, Angela Valli, Valeria Vianello Dri, Roberta Zanni, Leonardo Zoccante, Alessandro Zuddas

Research output: Contribution to journalArticle

Abstract

Objective The objective of this study was to replicate an association study on a newly collected Italian autism spectrum disorder (ASD) cohort by studying the genetic markers associated with ASDs from recent genome-wide and candidate gene association studies. Methods We have genotyped 746 individuals from 227 families of the Italian Autism Network using allelic discrimination TaqMan assays for seven common single-nucleotide polymorphisms: rs2292813 (SLC25A12 gene), rs35678 (ATP2B2 gene), rs4307059 (between CDH9 and CDH10 genes), rs10513025 (between SEMA5A and TAS2R1 genes), rs6872664 (PITX1 gene), rs1861972 (EN2 gene), and rs4141463 (MACROD2 gene). A family-based association study was conducted. Results A significant association was found for two of seven markers: rs4307059 T allele (odds ratio: 1.758, SE = 0.236; P-value = 0.017) and rs35678 TC genotype (odds ratio: 0.528, SE = 0.199; P-value = 0.0013). Conclusion A preferential allele transmission of two markers located at loci previously associated with social and verbal communication skill has been confirmed in patients of a new ASD family sample. Psychiatr Genet 00:000-000.

Original languageEnglish
Pages (from-to)177-181
Number of pages5
JournalPsychiatric Genetics
Volume22
Issue number4
DOIs
Publication statusPublished - Aug 1 2012

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Keywords

  • Autism spectrum disorders
  • Dominance effect
  • Rs35678
  • Rs4307059

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Genetics
  • Biological Psychiatry

Cite this

Prandini, P., Pasquali, A., Malerba, G., Marostica, A., Zusi, C., Xumerle, L., Muglia, P., Da Ros, L., Ratti, E., Trabetti, E., Pignatti, P. F., Allibrio, G., Amato, M. C., Anchisi, L., Andruccioli, M., Battistella, P. A., Benedetti, S., Benvenuto, A., Boscaini, F., ... Zuddas, A. (2012). The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. Psychiatric Genetics, 22(4), 177-181. https://doi.org/10.1097/YPG.0b013e32835185c9