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 Canetta & 42 others Alessandra 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

22 Citations (Scopus)

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

Fingerprint

Genes
Alleles
Odds Ratio
Viverridae
Genetic Association Studies
Autistic Disorder
Autism Spectrum Disorder
Genetic Markers
Single Nucleotide Polymorphism
Communication
Genotype
Genome

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., ... 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

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. / Prandini, Paola; Pasquali, Alessandra; Malerba, Giovanni; Marostica, Andrea; Zusi, Chiara; Xumerle, Luciano; Muglia, Pierandrea; Da Ros, Lucio; Ratti, Emiliangelo; Trabetti, Elisabetta; Pignatti, Pier Franco; Allibrio, Giovanni; Amato, Maria Cristina; Anchisi, Laura; Andruccioli, Milena; Battistella, Pier Antonio; Benedetti, Sveva; Benvenuto, Arianna; Boscaini, Flavio; Canetta, Elisabetta; Cangini, Alessandra; Conti, Sara; Curatolo, Paolo; Dalla Bernardina, Bernardo; De Giacomo, Andrea; Distefano, Grazia; Di Stefano, Maria Letizia; Di Vita, Giuseppa; Elia, Maurizio; Gitti, Filippo; Grittani, Serenella; Lafortezza, Mariaelena; Lamanna, Anna Linda; Mani, Elisa; Manzi, Barbara; Margari, Lucia; Marino, Maria; Masi, Gabriele; Molteni, Massimo; Nardocci, Franco; Parmeggiani, Antonia; Pascotto, Antonio; Patrini, Mara; Pias, Paola; Piroddi, Tiziana; Poledri, Sara; Polizzi, Miriam; Porfirio, Maria Cristina; Posar, Annio; Riccio, Maria Pia; Russo, Sebastiano; Santocchi, Elisa; Santucci, Margherita; Scifo, Renato; Tancredi, Raffaella; Tedde, Maria Rita; Tiberti, Alessandra; Valli, Angela; Dri, Valeria Vianello; Zanni, Roberta; Zoccante, Leonardo; Zuddas, Alessandro.

In: Psychiatric Genetics, Vol. 22, No. 4, 01.08.2012, p. 177-181.

Research output: Contribution to journalArticle

Prandini, P, Pasquali, A, Malerba, G, Marostica, A, Zusi, C, Xumerle, L, Muglia, P, Da Ros, L, Ratti, E, Trabetti, E, Pignatti, PF, Allibrio, G, Amato, MC, Anchisi, L, Andruccioli, M, Battistella, PA, Benedetti, S, Benvenuto, A, Boscaini, F, Canetta, E, Cangini, A, Conti, S, Curatolo, P, Dalla Bernardina, B, De Giacomo, A, Distefano, G, Di Stefano, ML, Di Vita, G, Elia, M, Gitti, F, Grittani, S, Lafortezza, M, Lamanna, AL, Mani, E, Manzi, B, Margari, L, Marino, M, Masi, G, Molteni, M, Nardocci, F, Parmeggiani, A, Pascotto, A, Patrini, M, Pias, P, Piroddi, T, Poledri, S, Polizzi, M, Porfirio, MC, Posar, A, Riccio, MP, Russo, S, Santocchi, E, Santucci, M, Scifo, R, Tancredi, R, Tedde, MR, Tiberti, A, Valli, A, Dri, VV, Zanni, R, Zoccante, L & Zuddas, A 2012, 'The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families', Psychiatric Genetics, vol. 22, no. 4, pp. 177-181. https://doi.org/10.1097/YPG.0b013e32835185c9
Prandini, Paola ; Pasquali, Alessandra ; Malerba, Giovanni ; Marostica, Andrea ; Zusi, Chiara ; Xumerle, Luciano ; Muglia, Pierandrea ; Da Ros, Lucio ; Ratti, Emiliangelo ; Trabetti, Elisabetta ; Pignatti, Pier Franco ; Allibrio, Giovanni ; Amato, Maria Cristina ; Anchisi, Laura ; Andruccioli, Milena ; Battistella, Pier Antonio ; Benedetti, Sveva ; Benvenuto, Arianna ; Boscaini, Flavio ; Canetta, Elisabetta ; Cangini, Alessandra ; Conti, Sara ; Curatolo, Paolo ; Dalla Bernardina, Bernardo ; De Giacomo, Andrea ; Distefano, Grazia ; Di Stefano, Maria Letizia ; Di Vita, Giuseppa ; Elia, Maurizio ; Gitti, Filippo ; Grittani, Serenella ; Lafortezza, Mariaelena ; Lamanna, Anna Linda ; Mani, Elisa ; Manzi, Barbara ; Margari, Lucia ; Marino, Maria ; Masi, Gabriele ; Molteni, Massimo ; Nardocci, Franco ; Parmeggiani, Antonia ; Pascotto, Antonio ; Patrini, Mara ; Pias, Paola ; Piroddi, Tiziana ; Poledri, Sara ; Polizzi, Miriam ; Porfirio, Maria Cristina ; Posar, Annio ; Riccio, Maria Pia ; Russo, Sebastiano ; Santocchi, Elisa ; Santucci, Margherita ; Scifo, Renato ; Tancredi, Raffaella ; Tedde, Maria Rita ; Tiberti, Alessandra ; Valli, Angela ; Dri, Valeria Vianello ; Zanni, Roberta ; Zoccante, Leonardo ; Zuddas, Alessandro. / The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. In: Psychiatric Genetics. 2012 ; Vol. 22, No. 4. pp. 177-181.
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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.",
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T1 - The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

AU - Prandini, Paola

AU - Pasquali, Alessandra

AU - Malerba, Giovanni

AU - Marostica, Andrea

AU - Zusi, Chiara

AU - Xumerle, Luciano

AU - Muglia, Pierandrea

AU - Da Ros, Lucio

AU - Ratti, Emiliangelo

AU - Trabetti, Elisabetta

AU - Pignatti, Pier Franco

AU - Allibrio, Giovanni

AU - Amato, Maria Cristina

AU - Anchisi, Laura

AU - Andruccioli, Milena

AU - Battistella, Pier Antonio

AU - Benedetti, Sveva

AU - Benvenuto, Arianna

AU - Boscaini, Flavio

AU - Canetta, Elisabetta

AU - Cangini, Alessandra

AU - Conti, Sara

AU - Curatolo, Paolo

AU - Dalla Bernardina, Bernardo

AU - De Giacomo, Andrea

AU - Distefano, Grazia

AU - Di Stefano, Maria Letizia

AU - Di Vita, Giuseppa

AU - Elia, Maurizio

AU - Gitti, Filippo

AU - Grittani, Serenella

AU - Lafortezza, Mariaelena

AU - Lamanna, Anna Linda

AU - Mani, Elisa

AU - Manzi, Barbara

AU - Margari, Lucia

AU - Marino, Maria

AU - Masi, Gabriele

AU - Molteni, Massimo

AU - Nardocci, Franco

AU - Parmeggiani, Antonia

AU - Pascotto, Antonio

AU - Patrini, Mara

AU - Pias, Paola

AU - Piroddi, Tiziana

AU - Poledri, Sara

AU - Polizzi, Miriam

AU - Porfirio, Maria Cristina

AU - Posar, Annio

AU - Riccio, Maria Pia

AU - Russo, Sebastiano

AU - Santocchi, Elisa

AU - Santucci, Margherita

AU - Scifo, Renato

AU - Tancredi, Raffaella

AU - Tedde, Maria Rita

AU - Tiberti, Alessandra

AU - Valli, Angela

AU - Dri, Valeria Vianello

AU - Zanni, Roberta

AU - Zoccante, Leonardo

AU - Zuddas, Alessandro

PY - 2012/8/1

Y1 - 2012/8/1

N2 - 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.

AB - 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.

KW - Autism spectrum disorders

KW - Dominance effect

KW - Rs35678

KW - Rs4307059

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