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

F Blasi; E Bacchelli; S Carone; C Toma; AP Monaco; AJ Bailey; E Maestrini; IMGSAC; Chantal Kemner

doi:10.1038/sj.ejhg.5201444

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

F Blasi
, E Bacchelli
, S Carone
, C Toma
, AP Monaco
, AJ Bailey
, E Maestrini^*
, IMGSAC
, Chantal Kemner

^*Corresponding author for this work

Chair Kemner

University of Oxford

Research output: Contribution to journal › Article › Academic › 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.

Original language	English
Pages (from-to)	123-126
Number of pages	4
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

autism
chromosome 2q
association
SLC25A12
CMYA3
SNPs
LINKAGE
DISEQUILIBRIUM
CHROMOSOME-2

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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.",

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author = "F Blasi and E Bacchelli and S Carone and C Toma and AP Monaco and AJ Bailey and E Maestrini and IMGSAC and Chantal Kemner",

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doi = "10.1038/sj.ejhg.5201444",

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TY - JOUR

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

AU - Blasi, F

AU - Bacchelli, E

AU - Carone, S

AU - Toma, C

AU - Monaco, AP

AU - Bailey, AJ

AU - Maestrini, E

AU - IMGSAC

AU - Kemner, Chantal

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.

KW - autism

KW - chromosome 2q

KW - association

KW - SLC25A12

KW - CMYA3

KW - SNPs

KW - LINKAGE

KW - DISEQUILIBRIUM

KW - CHROMOSOME-2

U2 - 10.1038/sj.ejhg.5201444

DO - 10.1038/sj.ejhg.5201444

M3 - Article

SN - 1018-4813

VL - 14

SP - 123

EP - 126

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 1

ER -

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

Abstract

Keywords

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