A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism

Journal of Neural Transmission

Volumn 116, Issue 3, 2009, Pages 381-388

  Buttenschøn, Henriette Nørmølle ^a   Lauritsen, Marlene Briciet ^a,b   Daoud, Agata El ^a   Hollegaard, Mads ^b,c,d   Jorgensen, Meta ^a   Tvedegaard, Kristine ^b   Hougaard, David ^c   Børglum, Anders ^a,b   Thorsen, Poul ^b   Mors, Ole ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c STATENS SERUM INSTITUT   (Denmark)

^d UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

2q31; Association; Autism; GABA; GAD1

Indexed keywords

ARTICLE; AUTISM; CHILD; CHROMOSOME 2; CONTROLLED STUDY; DENMARK; FEMALE; GABAERGIC SYSTEM; GENE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GLUTAMATE DECARBOXYLASE 1 GENE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTISTIC DISORDER; CASE-CONTROL STUDIES; CHILD; CHROMOSOMES, HUMAN, PAIR 2; DENMARK; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GLUTAMATE DECARBOXYLASE; HAPLOTYPES; HUMANS; INTRONS; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 61849145213     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-008-0142-4     Document Type: Article

References (37)

1. Lauritsen MB et al (2008) Quality of the diagnosis of childhood autism in the Danish Psychiatric Central Register (in preparation)
2. IMS AC 2001 A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p Am J Hum Genet 69 3 570 581
3. AM Addington 2005 GAD1 (2q31.1), which encodes glutamic acid decarboxylase (GAD67), is associated with childhood-onset schizophrenia and cortical gray matter volume loss Mol Psychiatry 10 6 581 588
4. WT Ambrosius EM Lange CD Langefeld 2004 Power for genetic association studies with random allele frequencies and genotype distributions Am J Hum Genet 74 4 683 693
5. American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders, 4th edn. American Psychiatric Association, Washington
6. A Bailey 1995 Autism as a strongly genetic disorder: evidence from a British twin study Psychol Med 25 1 63 77
7. AW Bergen 2005 Effects of DNA mass on multiple displacement whole genome amplification and genotyping performance BMC Biotechnol 5 24
8. F Blasi 2005 SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample Eur J Hum Genet 14 1 123 126
9. GJ Blatt 2005 GABAergic cerebellar system in autism: a neuropathological and developmental perspective Int Rev Neurobiol 71 167 178
10. GJ Blatt 2001 Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study J Autism Dev Disord 31 6 537 543
11. P Bolton 1994 A case-control family history study of autism J Child Psychol Psychiatry 35 5 877 900
12. JD Buxbaum 2001 Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity Am J Hum Genet 68 6 1514 1520
13. AL Collins 2006 Investigation of autism and GABA receptor subunit genes in multiple ethnic groups Neurogenetics 7 3 167 174
14. FB Dean 2002 Comprehensive human genome amplification using multiple displacement amplification Proc Natl Acad Sci USA 99 8 5261 5266
15. D Dhossche 2002 Elevated plasma gamma-aminobutyric acid (GABA) levels in autistic youngsters: stimulus for a GABA hypothesis of autism Med Sci Monit 8 8 R1 R6
16. SH Fatemi 2002 Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices Biol Psychiatry 52 8 805 810
17. CM Freitag 2007 The genetics of autistic disorders and its clinical relevance: a review of the literature Mol Psychiatry 12 1 2 22
18. U Hannelius 2005 Phenylketonuria screening registry as a resource for population genetic studies J Med Genet 42 10 e60
19. MV Hollegaard 2007 Whole genome amplification and genetic analysis after extraction of proteins from dried blood spots Clin Chem 53 6 1161 1162
20. MB Lauritsen 2006 A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands Mol Psychiatry 11 1 37 46
21. MD Lundorf 2005 Mutational screening and association study of glutamate decarboxylase 1 as a candidate susceptibility gene for bipolar affective disorder and schizophrenia Am J Med Genet B Neuropsychiatr Genet 135B 1 94 101
22. P Munk-Jorgensen PB Mortensen 1997 The Danish Psychiatric Central Register Dan Med Bull 44 1 82 84
23. B Norgaard-Pedersen H Simonsen 1999 Biological specimen banks in neonatal screening Acta Paediatr Suppl 88 432 106 109
24. A Philippe 1999 Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study Hum Mol Genet 8 5 805 812
25. R Rabionet 2004 Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes Neurosci Lett 372 3 209 214
26. R Rabionet 2006 Lack of association between autism and SLC25A12 Am J Psychiatry 163 5 929 931
27. N Ramoz 2004 Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism Am J Psychiatry 161 4 662 669
28. N Risch 1999 A genomic screen of autism: evidence for a multilocus etiology Am J Hum Genet 65 2 493 507
29. V Romano 2005 Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families Psychiatr Genet 15 2 149 150
30. DJ Schaid 2002 Score tests for association between traits and haplotypes when linkage phase is ambiguous Am J Hum Genet 70 2 425 434
31. R Segurado 2005 Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31 Am J Psychiatry 162 11 2182 2184
32. Y Shao 2002 Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder Am J Hum Genet 70 4 1058 1061
33. Y Shao 2002 Genomic screen and follow-up analysis for autistic disorder Am J Med Genet 114 1 99 105
34. H Simonsen NJ Brandt B Norgaard-Pedersen 1998 Neonatal screening in Denmark. Status and future perspectives Ugeskr Laeger 160 40 5777 5782
35. KM Sorensen 2007 Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems Genet Test 11 1 65 71
36. R Development Core Team (2004) R: a language and environment for statistical computing, Vienna, Austria R Foundation for statistical computing
37. J Yip JJ Soghomonian GJ Blatt 2007 Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications Acta Neuropathol 113 5 559 568