STX1A and Asperger syndrome: A replication study

Molecular Autism

Volumn 5, Issue 1, 2014, Pages

  Durdiaková, Jaroslava ^a   Warrier, Varun ^a   Banerjee Basu, Sharmila ^d   Baron Cohen, Simon ^a,b   Chakrabarti, Bhismadev ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b CAMBRIDGESHIRE AND PETERBOROUGH NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF READING   (United Kingdom)

^d MindSpec Inc   (United States)

Author keywords

Asperger syndrome; Serotonergic system; Single nucleotide polymorphism; STX1A

Indexed keywords

SYNTAXIN 1A;

ADULT; ARTICLE; ASPERGER SYNDROME; CAUCASIAN; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE REPLICATION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84896727377     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-5-14     Document Type: Article

References (22)

1. Asperger's syndrome. McPartland J, Klin A, Adolesc Med Clin 2006 17 3 771 788 17030291 (Pubitemid 44499166)
2. Prevalence of autism-spectrum conditions: UK school-based population study. Baron-Cohen S, Scott FJ, Allison C, Williams J, Bolton P, Matthews FE, Brayne C, Br J Psychiatry 2009 194 6 500 509 10.1192/bjp.bp.108.059345 19478287
3. Common genetic variants, acting additively, are a major source of risk for autism. Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH Jr, Roeder K, Devlin B, Mol Autism 2012 3 1 9 10.1186/2040-2392-3-9 23067556
4. Association between a GABRB3 polymorphism and autism. Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH Jr, Fang Y, Song CY, Vitale R, Mol Psychiatry 2002 7 3 311 316 10.1038/sj.mp.4001011 11920158 (Pubitemid 34280639)
5. GABA(A) receptor downregulation in brains of subjects with autism. Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD, J Autism Dev Disord 2009 39 2 223 230 10.1007/s10803-008-0646-7 18821008
6. Alterations of GABAergic signaling in autism spectrum disorders. Pizzarelli R, Cherubini E, Neural Plast 2011 2011 297153 21766041
7. Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children. Tavassoli T, Auyeung B, Murphy LC, Baron-Cohen S, Chakrabarti B, Mol Autism 2012 3 1 6 10.1186/2040-2392-3-6 22769427
8. Syntaxin 1A promotes the endocytic sorting of EAAC1 leading to inhibition of glutamate transport. Yu YX, Shen L, Xia P, Tang YW, Bao L, Pei G, J Cell Sci 2006 119 Pt 18 3776 3787 16959903 (Pubitemid 44614430)
9. Regulation of the serotonin transporter by interacting proteins. Haase J, Killian AM, Magnani F, Williams C, Biochem Soc Trans 2001 29 Pt 6 722 728 11709063 (Pubitemid 33131769)
10. GABA system dysfunction in autism and related disorders: from synapse to symptoms. Coghlan S, Horder J, Inkster B, Mendez MA, Murphy DG, Nutt DJ, Neurosci Biobehav Rev 2012 36 9 2044 2055 10.1016/j.neubiorev.2012.07.005 22841562
11. Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ, J Autism Dev Disord 2012 42 7 1459 1469 10.1007/s10803-011-1389-4 22048961
12. Genetic and expression analyses reveal elevated expression of syntaxin 1A (STX1A) in high functioning autism. Nakamura K, Anitha A, Yamada K, Tsujii M, Iwayama Y, Hattori E, Toyota T, Suda S, Takei N, Iwata Y, Suzuki K, Matsuzaki H, Kawai M, Sekine Y, Tsuchiya KJ, Sugihara G, Ouchi Y, Sugiyama T, Yoshikawa T, Mori N, Int J Neuropsychopharmacol 2008 11 8 1073 1084 10.1017/S1461145708009036 18593506
13. Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility. Nakamura K, Iwata Y, Anitha A, Miyachi T, Toyota T, Yamada S, Tsujii M, Tsuchiya KJ, Iwayama Y, Yamada K, Hattori E, Matsuzaki H, Matsumoto K, Suzuki K, Suda S, Takebayashi K, Takei N, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N, Prog Neuropsychopharmacol Biol Psychiatry 2011 35 2 454 458 10.1016/j.pnpbp.2010.11.033 21118708
14. The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Baron-Cohen S, Wheelwright S, Skinner R, Martin J, Clubley E, J Autism Dev Disord 2001 31 1 5 17 10.1023/A:1005653411471 11439754
15. Screening adults for Asperger Syndrome using the AQ: a preliminary study of its diagnostic validity in clinical practice. Woodbury-Smith MR, Robinson J, Wheelwright S, Baron-Cohen S, J Autism Dev Disord 2005 35 3 331 335 10.1007/s10803-005-3300-7 16119474 (Pubitemid 41125971)
16. Haploview: analysis and visualization of LD and haplotype maps. Barrett JC, Fry B, Maller J, Daly MJ, Bioinformatics 2005 21 2 263 265 10.1093/bioinformatics/bth457 15297300 (Pubitemid 40202029)
17. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S, Autism Res 2009 2 3 157 177 10.1002/aur.80 19598235
18. PLINK: a tool set for whole-genome association and population-based linkage analyses. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC, Am J Hum Genet 2007 81 3 559 575 10.1086/519795 17701901 (Pubitemid 47330214)
19. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Nyholt DR, Am J Hum Genet 2004 74 4 765 769 10.1086/383251 14997420 (Pubitemid 38420107)
20. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Ward LD, Kellis M, Nucleic Acids Res 2012 40 Database issue 930 934 22064851
21. SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. Chelala C, Khan A, Lemoine NR, Bioinformatics 2009 25 5 655 661 10.1093/bioinformatics/btn653 19098027
22. An integrative scoring system for ranking SNPs by their potential deleterious effects. Lee PH, Shatkay H, Bioinformatics 2009 25 8 1048 1055 10.1093/bioinformatics/btp103 19228803