Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A

Guia Guffanti, Luisa Strik Lievers, Maria Teresa Bonati, Margherita Marchi, Lupo Geronazzo, Nardo Nardocci, Margherita Estienne, Lidia Larizza, Fabio Macciardi, Silvia Russo

Research output: Contribution to journalArticle

Abstract

The aetiology of autism is still largely unknown despite analyses from family and twin studies demonstrating substantial genetic role in the aetiology of the disorder. Data from linkage studies and analyses of chromosomal abnormalities identified 15q11-q13 as a region of particular aetiopathogenesis interest. We screened a set of markers spanning two known imprinted, maternally expressed genes, UBE3A and ATP10A, harboured in this candidate region. We replicated evidence of linkage disequilibrium (LD) at marker D15S122, located at the 5' end of UBE3A and originally reported by Nurmi et al. (2001). The potential role of UBE3A in our family-based association study is further supported by the association of two haplotypes that include one of the alleles of D15S122 and by the transmission disequilibrium test (TDT) evidence of the same allele in a parent of origin effect analysis. In a secondary analysis, we provided the first evidence of a significant association between first word delay and psychomotor regression with the 15q11-q13 region. Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism.

Original languageEnglish
Pages (from-to)33-38
Number of pages6
JournalPsychiatry Research
Volume185
Issue number1-2
DOIs
Publication statusPublished - Jan 30 2011

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Autistic Disorder
Alleles
Twin Studies
Information Storage and Retrieval
Linkage Disequilibrium
Chromosome Aberrations
Haplotypes
Population
Genes

Keywords

  • ATP10A
  • Endophenotypes
  • Parent of origin effect

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry

Cite this

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population : A positive replication for UBE3A. / Guffanti, Guia; Lievers, Luisa Strik; Bonati, Maria Teresa; Marchi, Margherita; Geronazzo, Lupo; Nardocci, Nardo; Estienne, Margherita; Larizza, Lidia; Macciardi, Fabio; Russo, Silvia.

In: Psychiatry Research, Vol. 185, No. 1-2, 30.01.2011, p. 33-38.

Research output: Contribution to journalArticle

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