Common genetic variants on 1p13.2 associate with risk of autism

Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery ( n =2150) and three data sets of European ancestry po...

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Published inMolecular psychiatry Vol. 19; no. 11; pp. 1212 - 1219
Main Authors Xia, K, Guo, H, Hu, Z, Xun, G, Zuo, L, Peng, Y, Wang, K, He, Y, Xiong, Z, Sun, L, Pan, Q, Long, Z, Zou, X, Li, X, Li, W, Xu, X, Lu, L, Liu, Y, Hu, Y, Tian, D, Long, L, Ou, J, Zhang, L, Pan, Y, Chen, J, Peng, H, Liu, Q, Luo, X, Su, W, Wu, L, Liang, D, Dai, H, Yan, X, Feng, Y, Tang, B, Li, J, Miedzybrodzka, Z, Xia, J, Zhang, Z, Zhang, X, St Clair, D, Zhao, J, Zhang, F
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 01.11.2014
Nature Publishing Group
Subjects
631/208/726/649
692/420/2489/144
692/699/476/1312
African Americans
Asian Continental Ancestry Group - genetics
Autism
Autistic Disorder - genetics
Autistic Disorder - metabolism
Behavioral Sciences
Between-subjects design
Biological Psychology
China
Chromosomes, Human, Pair 1 - genetics
Cohort Studies
DNA-Binding Proteins - genetics
DNA-Binding Proteins - metabolism
Etiology
European Continental Ancestry Group - genetics
Genetic aspects
Genetic diversity
Genetic Predisposition to Disease
Genetic variation
Genome-wide association studies
Genome-Wide Association Study
Genomes
GTP Phosphohydrolases - genetics
GTP Phosphohydrolases - metabolism
Haplotypes
Humans
Identification and classification
Medicine
Medicine & Public Health
Membrane Proteins - genetics
Membrane Proteins - metabolism
Meta-Analysis as Topic
Neurodevelopmental disorders
Neurosciences
original-article
Pharmacotherapy
Polymorphism, Single Nucleotide
Prefrontal cortex
Prefrontal Cortex - metabolism
Psychiatry
Risk
Risk factors
RNA-Binding Proteins - genetics
RNA-Binding Proteins - metabolism
Single-nucleotide polymorphism
Systematic review
Transcription Factors - genetics
Transcription Factors - metabolism
China
human genetics
common genetic variants
association fine mapping
autism
genome-wide association study
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Abstract Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery ( n =2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 ( P =4.49 × 10 −8 ), non-synonymous rs6537835 ( P =3.26 × 10 −8 ) and rs1877455 ( P =8.70 × 10 −8 ), and related haplotypes, AMPD1-NRAS-CSDE1 , TRIM33 and TRIM33-BCAS2 , associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis -acting regulatory effect on the gene expressions of CSDE1 , NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
AbstractList Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 10 super(-8)), non-synonymous rs6537835 (P=3.26 10 super(-8)) and rs1877455 (P=8.70 10 super(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery ( n =2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 ( P =4.49 × 10 −8 ), non-synonymous rs6537835 ( P =3.26 × 10 −8 ) and rs1877455 ( P =8.70 × 10 −8 ), and related haplotypes, AMPD1-NRAS-CSDE1 , TRIM33 and TRIM33-BCAS2 , associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis -acting regulatory effect on the gene expressions of CSDE1 , NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n = 2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P = 4.49 x [10.sup.-8]), non-synonymous rs6537835 (P = 3.26 x [10.sup.-8]) and rs1877455 (P = 8.70 x [10.sup.-8]), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism. Molecular Psychiatry (2014) 19, 1212-1219; doi:10.1038/mp.2013.146; published online 5 November 2013 Keywords: association fine mapping; autism; common genetic variants; genome-wide association study; human genetics
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10−8), non-synonymous rs6537835 (P=3.26 × 10−8) and rs1877455 (P=8.70 × 10−8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n = 2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P = 4.49 x [10.sup.-8]), non-synonymous rs6537835 (P = 3.26 x [10.sup.-8]) and rs1877455 (P = 8.70 x [10.sup.-8]), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
Audience Academic
Author Liu, Y
Zou, X
St Clair, D
Pan, Y
Feng, Y
Li, J
Tang, B
Liu, Q
Long, Z
He, Y
Pan, Q
Xun, G
Tian, D
Peng, H
Chen, J
Wang, K
Guo, H
Liang, D
Zuo, L
Peng, Y
Ou, J
Miedzybrodzka, Z
Wu, L
Su, W
Zhao, J
Sun, L
Xu, X
Luo, X
Lu, L
Zhang, X
Zhang, Z
Xiong, Z
Zhang, F
Hu, Y
Hu, Z
Yan, X
Li, X
Dai, H
Xia, J
Xia, K
Li, W
Zhang, L
Long, L
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/24189344$$D View this record in MEDLINE/PubMed
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Snippet Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report...
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SubjectTerms 631/208/726/649
692/420/2489/144
692/699/476/1312
African Americans
Asian Continental Ancestry Group - genetics
Autism
Autistic Disorder - genetics
Autistic Disorder - metabolism
Behavioral Sciences
Between-subjects design
Biological Psychology
China
Chromosomes, Human, Pair 1 - genetics
Cohort Studies
DNA-Binding Proteins - genetics
DNA-Binding Proteins - metabolism
Etiology
European Continental Ancestry Group - genetics
Genetic aspects
Genetic diversity
Genetic Predisposition to Disease
Genetic variation
Genome-wide association studies
Genome-Wide Association Study
Genomes
GTP Phosphohydrolases - genetics
GTP Phosphohydrolases - metabolism
Haplotypes
Humans
Identification and classification
Medicine
Medicine & Public Health
Membrane Proteins - genetics
Membrane Proteins - metabolism
Meta-Analysis as Topic
Neurodevelopmental disorders
Neurosciences
original-article
Pharmacotherapy
Polymorphism, Single Nucleotide
Prefrontal cortex
Prefrontal Cortex - metabolism
Psychiatry
Risk
Risk factors
RNA-Binding Proteins - genetics
RNA-Binding Proteins - metabolism
Single-nucleotide polymorphism
Systematic review
Transcription Factors - genetics
Transcription Factors - metabolism
Title Common genetic variants on 1p13.2 associate with risk of autism
URI https://link.springer.com/article/10.1038/mp.2013.146
https://www.ncbi.nlm.nih.gov/pubmed/24189344
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Volume 19
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