A Pooled Genome-Wide Association Study of Asperger Syndrome
Varun Warrier, Bhismadev Chakrabarti, Laura Murphy, Allen Chan, Ian Craig, Uma Mallya, Silvia Lakatošová, Karola Rehnstrom, Leena Peltonen, Sally Wheelwright, Carrie Allison, Simon E Fisher, Simon Baron-Cohen
Deanery of Molecular, Genetic and Population Health Sciences
MRC Human Genetics Unit
Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.
Case-Control Studies
Genetic Predisposition to Disease
Genome, Human
Genome-Wide Association Study
Polymorphism, Single Nucleotide
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Asperger Syndrome Medicine & Life Sciences 100%
Genome-Wide Association Study Medicine & Life Sciences 73%
Single Nucleotide Polymorphism Medicine & Life Sciences 59%
Autistic Disorder Medicine & Life Sciences 46%
Stereotyped Behavior Medicine & Life Sciences 16%
Language Development Medicine & Life Sciences 14%
Interpersonal Relations Medicine & Life Sciences 12%
Warrier, V., Chakrabarti, B., Murphy, L., Chan, A., Craig, I., Mallya, U., Lakatošová, S., Rehnstrom, K., Peltonen, L., Wheelwright, S., Allison, C., Fisher, S. E., & Baron-Cohen, S. (2015). A Pooled Genome-Wide Association Study of Asperger Syndrome. PLoS ONE, 10(7), e0131202. https://doi.org/10.1371/journal.pone.0131202
Warrier, Varun ; Chakrabarti, Bhismadev ; Murphy, Laura ; Chan, Allen ; Craig, Ian ; Mallya, Uma ; Lakatošová, Silvia ; Rehnstrom, Karola ; Peltonen, Leena ; Wheelwright, Sally ; Allison, Carrie ; Fisher, Simon E ; Baron-Cohen, Simon. / A Pooled Genome-Wide Association Study of Asperger Syndrome. In: PLoS ONE. 2015 ; Vol. 10, No. 7. pp. e0131202.
@article{ce5d8e3ee56547ca895300e60854d4a5,
title = "A Pooled Genome-Wide Association Study of Asperger Syndrome",
abstract = "Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.",
keywords = "Asperger Syndrome, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide, Journal Article, Research Support, Non-U.S. Gov't",
author = "Varun Warrier and Bhismadev Chakrabarti and Laura Murphy and Allen Chan and Ian Craig and Uma Mallya and Silvia Lakato{\v s}ov{\'a} and Karola Rehnstrom and Leena Peltonen and Sally Wheelwright and Carrie Allison and Fisher, {Simon E} and Simon Baron-Cohen",
pages = "e0131202",
Warrier, V, Chakrabarti, B, Murphy, L, Chan, A, Craig, I, Mallya, U, Lakatošová, S, Rehnstrom, K, Peltonen, L, Wheelwright, S, Allison, C, Fisher, SE & Baron-Cohen, S 2015, 'A Pooled Genome-Wide Association Study of Asperger Syndrome', PLoS ONE, vol. 10, no. 7, pp. e0131202. https://doi.org/10.1371/journal.pone.0131202
A Pooled Genome-Wide Association Study of Asperger Syndrome. / Warrier, Varun; Chakrabarti, Bhismadev; Murphy, Laura; Chan, Allen; Craig, Ian; Mallya, Uma; Lakatošová, Silvia; Rehnstrom, Karola; Peltonen, Leena; Wheelwright, Sally; Allison, Carrie; Fisher, Simon E; Baron-Cohen, Simon.
In: PLoS ONE, Vol. 10, No. 7, 2015, p. e0131202.
T1 - A Pooled Genome-Wide Association Study of Asperger Syndrome
AU - Warrier, Varun
AU - Chakrabarti, Bhismadev
AU - Murphy, Laura
AU - Chan, Allen
AU - Craig, Ian
AU - Mallya, Uma
AU - Lakatošová, Silvia
AU - Rehnstrom, Karola
AU - Peltonen, Leena
AU - Wheelwright, Sally
AU - Allison, Carrie
AU - Fisher, Simon E
AU - Baron-Cohen, Simon
N2 - Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.
AB - Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.
KW - Asperger Syndrome
KW - Case-Control Studies
KW - Gene Frequency
KW - Genetic Predisposition to Disease
KW - Genome, Human
KW - Genome-Wide Association Study
KW - Humans
KW - Male
KW - Polymorphism, Single Nucleotide
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
SP - e0131202
Warrier V, Chakrabarti B, Murphy L, Chan A, Craig I, Mallya U et al. A Pooled Genome-Wide Association Study of Asperger Syndrome. PLoS ONE. 2015;10(7):e0131202. https://doi.org/10.1371/journal.pone.0131202