Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs
Delphine Fradin,Delphine Fradin,Keely Cheslack-Postava,Christine Ladd-Acosta,Craig J. Newschaffer,Aravinda Chakravarti,Dan E. Arking,Andrew P. Feinberg,M. Daniele Fallin +8 more
Reads0
Chats0
TLDR
These regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.Abstract:
Background: Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association. Methods and Findings: We have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LODGH=3.79, empirical p,0.005 and LODAspex=2.96, p=0.008), 15 (LODGH=3.09, empirical p,0.005 and LODAspex=3.62, empirical p=0.003) and 20 (LODGH=3.36, empirical p,0.005 and LODAspex=3.38, empirical p=0.006). Conclusions: These regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.read more
Citations
More filters
Journal ArticleDOI
Blipped-controlled aliasing in parallel imaging for simultaneous multislice echo planar imaging with reduced g-factor penalty.
Kawin Setsompop,Borjan Gagoski,Jonathan R. Polimeni,Thomas Witzel,Thomas Witzel,Van J. Wedeen,Van J. Wedeen,Lawrence L. Wald,Lawrence L. Wald +8 more
TL;DR: In this paper, the authors introduce a method to create interslice image shifts in the phase encoding direction to increase the distance between aliasing pixels, induced using sign-and amplitude-modulated slice-select gradient blips simultaneous with the EPI phase encoding blips.
Journal ArticleDOI
The role of genomic imprinting in biology and disease: an expanding view
TL;DR: It is shown that imprinted genes influence an extraordinarily wide-ranging array of biological processes, the effects of which extend into adulthood, and play important parts in common diseases that range from obesity to psychiatric disorders.
Journal ArticleDOI
Common DNA methylation alterations in multiple brain regions in autism.
Christine Ladd-Acosta,Kasper D. Hansen,Eirikur Briem,M. D. Fallin,Walter E. Kaufmann,Andrew P. Feinberg +5 more
TL;DR: The four genome-wide significant differentially methylated regions (DMRs) identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.
Journal ArticleDOI
Epigenetic Signatures of Autism: Trimethylated H3K4 Landscapes in Prefrontal Neurons
Hennady P. Shulha,Iris Cheung,Catheryne Whittle,Jie Wang,Daniel Virgil,Cong L. Lin,Yin Guo,Andree Lessard,Schahram Akbarian,Zhiping Weng +9 more
TL;DR: Prefrontal cortex neurons from subjects with autism show changes in chromatin structures at hundreds of loci genome-wide, revealing considerable overlap between genetic and epigenetic risk maps of developmental brain disorders.
Journal ArticleDOI
Individual Brain Charting, a high-resolution fMRI dataset for cognitive mapping.
Ana Luísa Pinho,Alexis Amadon,Torsten Ruest,Murielle Fabre,Elvis Dohmatob,Isabelle Denghien,Chantal Ginisty,Séverine Becuwe-Desmidt,Séverine Roger,Laurence Laurier,Véronique Joly-Testault,Gaëlle Médiouni-Cloarec,Christine Doublé,Bernadette Martins,Philippe Pinel,Evelyn Eger,Gaël Varoquaux,Christophe Pallier,Stanislas Dehaene,Lucie Hertz-Pannier,Bertrand Thirion +20 more
TL;DR: The present article gives a detailed description of the first release of the IBC dataset, a high-resolution multi-task fMRI dataset that intends to provide the objective basis toward a comprehensive functional atlas of the human brain.
References
More filters
Journal ArticleDOI
Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
TL;DR: The revised interview has been reorganized, shortened, modified to be appropriate for children with mental ages from about 18 months into adulthood and linked to ICD-10 and DSM-IV criteria.
Journal ArticleDOI
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tohru Kitada,Shuichi Asakawa,Nobutaka Hattori,Hiroto Matsumine,Yasuhiro Yamamura,Shinsei Minoshima,Masayuki Yokochi,Yoshikuni Mizuno,Nobuyoshi Shimizu +8 more
TL;DR: Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.
Journal ArticleDOI
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.
TL;DR: The multipoint engine for rapid likelihood inference (Merlin) is a computer program that uses sparse inheritance trees for pedigree analysis; it performs rapid haplotyping, genotype error detection and affected pair linkage analyses and can handle more markers than other pedigree analysis packages.
Journal ArticleDOI
Autism as a strongly genetic disorder: evidence from a British twin study.
Anthony J. Bailey,A. Le Couteur,Irving I. Gottesman,Patrick Bolton,Emily Simonoff,E. Yuzda,Michael Rutter +6 more
TL;DR: The findings indicate that autism is under a high degree of genetic control and suggest the involvement of multiple genetic loci.
Journal ArticleDOI
Advances in autism genetics: on the threshold of a new neurobiology
TL;DR: Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.
Related Papers (5)
Advances in autism genetics: on the threshold of a new neurobiology
Strong Association of De Novo Copy Number Mutations with Autism
Jonathan Sebat,B. Lakshmi,Dheeraj Malhotra,Jennifer Troge,Christa Lese-Martin,Tom Walsh,Boris Yamrom,Seungtai Yoon,Alexander Krasnitz,Jude Kendall,Anthony Leotta,Deepa Pai,Ray Zhang,Yoon-ha Lee,James W. Hicks,Sarah J. Spence,Annette Lee,Kaija Puura,Terho Lehtimäki,David H. Ledbetter,Peter K. Gregersen,Joel D. Bregman,James S. Sutcliffe,Vaidehi Jobanputra,Wendy K. Chung,Dorothy Warburton,Mary Claire King,David Skuse,Daniel H. Geschwind,T. Conrad Gilliam,Kenny Ye,Michael Wigler +31 more