SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

Jonathan Green; Francesca Blasi; Elena Bacchelli; Simona Carone; Claudio Toma; Anthony P. Monaco; Anthony J. Bailey; Elena Maestrini; Janine Lamb

doi:10.1038/sj.ejhg.5201444

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

Jonathan Green, Francesca Blasi, Elena Bacchelli, Simona Carone, Claudio Toma, Anthony P. Monaco, Anthony J. Bailey, Elena Maestrini, Janine Lamb

Research output: Contribution to journal › Article › peer-review

Abstract

Autism is a severe neurodevelopmental disorder with a complex genetic predisposition. Linkage findings from several genome scans suggest the presence of an autism susceptibility locus on chromosome 2q24-q33, making this region the focus of candidate gene and association studies. Recently, significant association with autism has been reported for single-nucleotide polymorphisms (SNPs) in the SLC25A12 and CMYA3 genes on chromosome 2q. We attempted to replicate these findings in the collection of families from the International Molecular Genetic Study of Autism Consortium (IMGSAC), using the transmission disequilibrium test and case-control comparison. Our study failed to reveal any significant association for the SNPs tested at either locus, suggesting that these variants are unlikely to play a major role in genetic susceptibility to autism in our sample. © 2006 Nature Publishing Group. All rights reserved.

Original language	English
Pages (from-to)	123-126
Number of pages	3
Journal	European Journal of Human Genetics
Volume	14
Issue number	1
DOIs	https://doi.org/10.1038/sj.ejhg.5201444
Publication status	Published - Jan 2006

Keywords

Association
Autism
Chromosome 2q
CMYA3
SLC25A12
SNPs

Access to Document

10.1038/sj.ejhg.5201444

Preschool Autism Communication Trial (PACT).
Green, J. (PI), Macdonald, W. (CoI) & Pickles, A. (CoI)
13/02/06 → 18/04/10
Project: Research

Cite this

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title = "SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample",

abstract = "Autism is a severe neurodevelopmental disorder with a complex genetic predisposition. Linkage findings from several genome scans suggest the presence of an autism susceptibility locus on chromosome 2q24-q33, making this region the focus of candidate gene and association studies. Recently, significant association with autism has been reported for single-nucleotide polymorphisms (SNPs) in the SLC25A12 and CMYA3 genes on chromosome 2q. We attempted to replicate these findings in the collection of families from the International Molecular Genetic Study of Autism Consortium (IMGSAC), using the transmission disequilibrium test and case-control comparison. Our study failed to reveal any significant association for the SNPs tested at either locus, suggesting that these variants are unlikely to play a major role in genetic susceptibility to autism in our sample. {\textcopyright} 2006 Nature Publishing Group. All rights reserved.",

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author = "Jonathan Green and Francesca Blasi and Elena Bacchelli and Simona Carone and Claudio Toma and Monaco, {Anthony P.} and Bailey, {Anthony J.} and Elena Maestrini and Janine Lamb",

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T1 - SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

AU - Green, Jonathan

AU - Blasi, Francesca

AU - Bacchelli, Elena

AU - Carone, Simona

AU - Toma, Claudio

AU - Monaco, Anthony P.

AU - Bailey, Anthony J.

AU - Maestrini, Elena

AU - Lamb, Janine

PY - 2006/1

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AB - Autism is a severe neurodevelopmental disorder with a complex genetic predisposition. Linkage findings from several genome scans suggest the presence of an autism susceptibility locus on chromosome 2q24-q33, making this region the focus of candidate gene and association studies. Recently, significant association with autism has been reported for single-nucleotide polymorphisms (SNPs) in the SLC25A12 and CMYA3 genes on chromosome 2q. We attempted to replicate these findings in the collection of families from the International Molecular Genetic Study of Autism Consortium (IMGSAC), using the transmission disequilibrium test and case-control comparison. Our study failed to reveal any significant association for the SNPs tested at either locus, suggesting that these variants are unlikely to play a major role in genetic susceptibility to autism in our sample. © 2006 Nature Publishing Group. All rights reserved.

KW - Association

KW - Autism

KW - Chromosome 2q

KW - CMYA3

KW - SLC25A12

KW - SNPs

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SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

Abstract

Keywords

Access to Document

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Projects

Preschool Autism Communication Trial (PACT).

Cite this