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Family‐based association testing of OCD‐associated SNPs of SLC1A1 in an autism sample

Family‐based association testing of OCD‐associated SNPs of SLC1A1 in an autism sample Reports identified the neuronal glutamate transporter gene, SLC1A1 (OMIM 133550, chromosome 9p24), as a positional and functional candidate gene for obsessive–compulsive disorder (OCD). The presence of obsessions and compulsions similar to OCD in autism, the identification of this region in a genome‐wide linkage analysis of individuals with autism spectrum disorders (ASDs), and the hypothesized role of glutamate in ASDs make SLC1A1 a candidate gene for ASD as well. To test for association between SLC1A1 and autism, we typed three single nucleotide polymorphisms (SNPs, rs301430, rs301979, rs301434) previously associated with OCD in 86 strictly defined trios with autism. Family‐Based Association Tests (FBAT) with additive and recessive models were used to check for association. Additionally, an rs301430–rs301979 haplotype identified for OCD was investigated. FBAT revealed nominally significant association between autism and one SNP under a recessive model. The G allele of rs301979 was undertransmitted (equivalent to overtransmission of the C allele under a dominant model) to individuals with autism (Z=−2.47, P=0.01). The G allele was also undertransmitted in the T–G haplotype under the recessive model (Z=−2.41, P=0.02). Both findings were also observed in the male‐only sample. However, they did not withstand correction for multiple comparisons. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Autism Research Wiley

Family‐based association testing of OCD‐associated SNPs of SLC1A1 in an autism sample

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References (49)

Publisher
Wiley
Copyright
Copyright © 2008, International Society for Autism Research, Wiley Periodicals, Inc.
ISSN
1939-3792
eISSN
1939-3806
DOI
10.1002/aur.11
pmid
19360657
Publisher site
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Abstract

Reports identified the neuronal glutamate transporter gene, SLC1A1 (OMIM 133550, chromosome 9p24), as a positional and functional candidate gene for obsessive–compulsive disorder (OCD). The presence of obsessions and compulsions similar to OCD in autism, the identification of this region in a genome‐wide linkage analysis of individuals with autism spectrum disorders (ASDs), and the hypothesized role of glutamate in ASDs make SLC1A1 a candidate gene for ASD as well. To test for association between SLC1A1 and autism, we typed three single nucleotide polymorphisms (SNPs, rs301430, rs301979, rs301434) previously associated with OCD in 86 strictly defined trios with autism. Family‐Based Association Tests (FBAT) with additive and recessive models were used to check for association. Additionally, an rs301430–rs301979 haplotype identified for OCD was investigated. FBAT revealed nominally significant association between autism and one SNP under a recessive model. The G allele of rs301979 was undertransmitted (equivalent to overtransmission of the C allele under a dominant model) to individuals with autism (Z=−2.47, P=0.01). The G allele was also undertransmitted in the T–G haplotype under the recessive model (Z=−2.41, P=0.02). Both findings were also observed in the male‐only sample. However, they did not withstand correction for multiple comparisons.

Journal

Autism Research – Wiley

Published: Apr 1, 2008

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