A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Jacob L McCauleyJames S Sutcliffe

Abstract

Autism is a complex genetic neuropsychiatric condition characterized by deficits in social interaction and language and patterns of repetitive or stereotyped behaviors and restricted interests. Chromosome 15q11.2-q13 is a candidate region for autism susceptibility based on observations of chromosomal duplications in a small percentage of affected individuals and findings of linkage and association. We performed linkage disequilibrium (LD) mapping across a 1-Mb interval containing a cluster of GABA(A) receptor subunit genes (GABRB3, GABRA5, and GABRG3) which are good positional and functional candidates. Intermarker LD was measured for 59 single nucleotide polymorphism (SNP) markers spanning this region, corresponding to an average marker spacing of 17.7 kb(-1). We identified haplotype blocks, and characterized these blocks for common (>5%) haplotypes present in the study population. At this marker resolution, haplotype blocks comprise <50% of the DNA in this region, consistent with a high local recombination rate. Identification of haplotype tag SNPs reduces the overall number of markers necessary to detect all common alleles by only 12%. Individual SNPs and multi-SNP haplotypes were examined for evidence of allelic association...Continue Reading

References

Sep 1, 1977·Journal of Child Psychology and Psychiatry, and Allied Disciplines·S Folstein, M Rutter
May 1, 1989·Journal of Child Psychology and Psychiatry, and Allied Disciplines·S SteffenburgM Bohman
Jan 1, 1995·Psychological Medicine·A BaileyM Rutter
Aug 1, 1994·Developmental Medicine and Child Neurology·S BundeyJ A Corbett
Jan 1, 1993·European Journal of Human Genetics : EJHG·W P RobinsonA Schinzel
Apr 1, 1997·Genomics·K GlattM Lalande
Aug 5, 1998·Current Opinion in Genetics & Development·Y JiangA L Beaudet
Mar 2, 1999·American Journal of Medical Genetics·T K MohandasJ B Moeschler
Apr 10, 1999·Human Molecular Genetics·A PhilippeL van Malldergerme
Jul 27, 1999·American Journal of Human Genetics·N RischR M Myers
Sep 3, 1999·Psychological Medicine·E Fombonne
Dec 3, 1999·American Journal of Medical Genetics·S BarrettS Slager
Feb 25, 2000·American Journal of Medical Genetics·E R MartinM A Pericak-Vance
May 29, 2000·American Journal of Human Genetics·E R MartinN L Kaplan
Jun 8, 2000·Bioinformatics·G R Abecasis, W O Cookson
Jul 14, 2001·American Journal of Human Genetics·J LiuUNKNOWN Autism Genetic Resource Exchange Consortium
Oct 5, 2001·Nature Genetics·M J DalyE S Lander
Jan 30, 2002·Journal of Autism and Developmental Disorders·G J BlattM L Bauman
Feb 13, 2002·American Journal of Medical Genetics·Yujun ShaoMargaret A Pericak-Vance
Mar 29, 2002·Molecular Psychiatry·J D BuxbaumR Vitale
May 25, 2002·Science·Stacey B GabrielDavid Altshuler
Jun 8, 2002·Nature Genetics·Augustine KongKari Stefansson
Jul 3, 2002·Journal of Neurogenetics·M M MenoldJ R Gilbert
Jul 12, 2002·Nature·Elisabeth DawsonIan Dunham
Jan 25, 2003·Journal of the American Academy of Child and Adolescent Psychiatry·James S SutcliffePaul J Lombroso
Mar 5, 2003·Trends in Genetics : TIG·Lon R Cardon, Gonçalo R Abecasis
Apr 24, 2003·Journal of Autism and Developmental Disorders·Sarah AldredRosemary H Waring
Jun 24, 2003·Journal of the American Academy of Child and Adolescent Psychiatry·Erika L NurmiJames S Sutcliffe

❮ Previous
Next ❯

Citations

Sep 30, 2008·Journal of Autism and Developmental Disorders·S Hossein FatemiPaul D Thuras
Jan 13, 2010·Journal of Autism and Developmental Disorders·S Hossein FatemiPaul D Thuras
Jul 26, 2011·Journal of Autism and Developmental Disorders·Yun JiaoEdward H Herskovits
May 5, 2012·Journal of Autism and Developmental Disorders·Jing-Qiong Kang, Gregory Barnes
May 8, 2008·Current Neurology and Neuroscience Reports·Kyle P Johnson, Beth A Malow
Sep 11, 2008·Current Treatment Options in Neurology·Kyle P Johnson, Beth A Malow
Apr 18, 2008·The Cerebellum·S Hossein FatemiRobert W Sidwell
Nov 26, 2009·Molecular Psychiatry·R J DelahantyJ S Sutcliffe
May 25, 2006·European Journal of Human Genetics : EJHG·Sabine M Klauck
Mar 25, 2006·Journal of Medical Genetics·J B VincentS W Scherer
Jan 19, 2007·Neuropsychobiology·Soon Ae KimHee Jeong Yoo
Apr 27, 2012·Environmental Health Perspectives·Janie F SheltonIsaac N Pessah
Dec 3, 2013·Psychopharmacology·Jacob A S VorstmanJan K Buitelaar
Mar 29, 2014·Journal of Autism and Developmental Disorders·S Hossein FatemiPaul D Thuras
Mar 8, 2013·Neuromolecular Medicine·Bess M FlashnerG Ian Gallicano
May 18, 2010·Expert Opinion on Emerging Drugs·Logan K WinkChristopher J McDougle
Mar 11, 2016·Journal of Pediatric Neurosciences·Preeti A Devnani, Anaita U Hegde
May 24, 2011·Pediatric Clinics of North America·Ann M Reynolds, Beth A Malow
Sep 27, 2015·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Miroslava Varadinova, Nadka Boyadjieva
Jun 6, 2008·Epilepsy Research·Aristea S Galanopoulou
Jan 24, 2007·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Mao Sheng Yang, Michael Gill
Jul 31, 2008·American Journal of Medical Genetics. Part a·Gene S Fisch
Mar 26, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Soo-Jeong KimEdwin H Cook
Sep 9, 2011·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Gene J Blatt, S Hossein Fatemi
Feb 26, 2013·Autism Research : Official Journal of the International Society for Autism Research·Charisma R ShahJeremy Veenstra-VanderWeele
Jul 16, 2010·Autism Research : Official Journal of the International Society for Autism Research·Hsien-Sung HuangSchahram Akbarian
May 8, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Dimitrios I ZafeiriouEuthymia Vargiami
Sep 8, 2011·Journal of Neurochemistry·James E CrandallPeter McCaffery
Dec 24, 2009·Autism Research : Official Journal of the International Society for Autism Research·Suma JacobJames F Leckman
Jul 21, 2010·Journal of the American Academy of Child and Adolescent Psychiatry·Daria GrafodatskayaRosanna Weksberg
Oct 9, 2008·Neurobiology of Disease·Amber HogartN Carolyn Schanen
Sep 26, 2006·Biological Psychiatry·Abha R Gupta, Matthew W State
Apr 22, 2014·Expert Opinion on Therapeutic Patents·Alberto LeoniMirella Rambaldi
Mar 11, 2015·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·J L SilvermanJ N Crawley
Jun 15, 2015·Seminars in Pediatric Neurology·Kanwaljit Singh, Andrew W Zimmerman

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.