Genome-wide association study and identification of chromosomal enhancer maps in multiple brain regions related to autism spectrum disorder

Autism Research : Official Journal of the International Society for Autism Research
Lu ZhangFeng Zhang

Abstract

Autism spectrum disorder (ASD) is a complex developmental disorder with strong genetic components involved. Recent studies have demonstrated the importance of non-coding regulatory variants for complex diseases. To explore the roles of chromosomal enhancer regions in the pathogenesis of ASD, we conducted an integrative analysis of genome-wide association study (GWAS) and brain region related enhancer-gene networks for ASD. The GWAS data of ASD were driven from a published study, involving 7,387 ASD cases and 8,567 controls. The enhancer-gene networks of eight brain regions were used here. The GWAS of ASD was first merged respectively with the enhancer datasets of eight brain regions. Pathway enrichment analysis was then performed to detect ASD associated pathways based on the enhancer-related single nucleotide polymorphism (SNPs) of each brain region. We detected multiple genes with brain region specific or common association signals, such as PGM3 (P value = 1.93 × 10-5 ) and RWDD2A (P value = 1.93 × 10-5 ) for hippocampus middle, and ENPP4 (all P values <0.05), and ENPP5 (all P values <0.05) for seven brain regions. By comparing the pathway enrichment analysis results of various brain regions, several cross brain regions pathw...Continue Reading

References

Jun 1, 1989·Journal of Autism and Developmental Disorders·C LordE Schopler
Jan 1, 1995·Psychological Medicine·A BaileyM Rutter
Apr 17, 1998·American Journal of Medical Genetics·R J SchroerR E Stevenson
Sep 25, 2004·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Tetsuya MaruiTsukasa Sasaki
Oct 4, 2005·Proceedings of the National Academy of Sciences of the United States of America·Aravind SubramanianJill P Mesirov
Jun 7, 2006·The Journal of Biological Chemistry·Igor SplawskiMark T Keating
Feb 15, 2007·Nature Reviews. Neuroscience·Matthew B DalvaMatthew S Kayser
May 9, 2007·Epigenetics : Official Journal of the DNA Methylation Society·Raman P NagarajanJanine M LaSalle
Oct 30, 2007·American Journal of Human Genetics·Kai WangMaja Bucan
Feb 9, 2008·Trends in Neurosciences·David G AmaralChristine Wu Nordahl
May 31, 2008·Nature Genetics·Bin XuMaria Karayiorgou
Oct 30, 2008·Biochemical and Biophysical Research Communications·Yu ZhilingMariko Y Momoi
Nov 22, 2008·Brain : a Journal of Neurology·L W de JongJ van der Grond
May 1, 2009·Nature·Joseph T GlessnerHakon Hakonarson
Jun 23, 2009·Trends in Neurosciences·Catalina BetancurJoseph D Buxbaum
Jul 10, 2010·Bioinformatics·Cristen J WillerGonçalo R Abecasis
Mar 2, 2011·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Angela Scheuerle, Kathleen Wilson
May 27, 2011·Nature·Irina VoineaguDaniel H Geschwind
May 28, 2011·Journal of Neurodevelopmental Disorders·Randi HagermanPaul Hagerman
Jun 23, 2012·Cold Spring Harbor Perspectives in Biology·Jennifer C Darnell, Joel D Richter
Aug 21, 2013·Journal of Alzheimer's Disease : JAD·Naomi Nihonmatsu-KikuchiYoshitaka Tatebayashi
Mar 13, 2014·Harvard Review of Psychiatry·Michael E TalkowskiJames F Gusella
Mar 29, 2014·Nature·Robin AnderssonAlbin Sandelin
Feb 20, 2015·Nature·UNKNOWN Roadmap Epigenomics ConsortiumManolis Kellis
Mar 19, 2015·Frontiers in Cellular Neuroscience·Luca GuglielmiMauro Pessia
Jun 16, 2015·Frontiers in Neurology·Yuk Jing LokeJeffrey Mark Craig
Jul 15, 2015·Human Molecular Genetics·Feng Zhang, James R Lupski
May 26, 2017·Molecular Autism·UNKNOWN Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium

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Nov 21, 2019·Aging·Sabah NisarMohammad Haris

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