Evidence map›Paper›PMID 16172613›Full record

Trial reportMolecular psychiatry2005

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.

T L Petryshen, F A Middleton, A R Tahl, G N Rockwell, S Purcell, K A Aldinger, A Kirby, C P Morley, L McGann, K L Gentile and 15 more

Abstract readClinical TrialComparative Study
PubMed Publisher
In one paragraph

Trial report in Molecular psychiatry, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 1 pooled it
14.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

61 citing papers in PubMed, 1 synthesis or guideline pooled it, 134 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Modulators of GABANeuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024
    Review
  6. Article
  7. Sex differences in GABAGenes, brain, and behavior · 2022
    Article
  8. Article
  9. The association of GABRB2 SNPs with cognitive function in schizophrenia.European archives of psychiatry and clinical neuroscience · 2020
    Article
  10. Highly Recurrent Copy Number Variations inFrontiers in psychiatry · 2020
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017
    Article
  16. Review
  17. Article
  18. Article
  19. Currently recognized genes for schizophrenia: High-resolution chromosome ideogram representation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2016
    Article
  20. Article

1 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors at 12 institutions in 5 countries.

T L PetryshenProgram in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.
F A Middleton
A R Tahl
G N Rockwell
S Purcell
K A Aldinger
A Kirby
C P Morley
L McGann
K L Gentile
S G Waggoner
H M Medeiros
C Carvalho
A Macedo
M Albus
W Maier
M Trixler
P Eichhammer
S G Schwab
D B Wildenauer
M H Azevedo
M T Pato
C N Pato
M J Daly
P Sklar
State University of New York · USMassachusetts Institute of Technology · USBroad Institute · USCenter for Human Genetics · USGeorgetown University · USUniversity of Western Australia · AUHarvard University · USMassachusetts General Hospital · USUniversity of Bonn · DEUniversity of Coimbra · PTUniversity of Pecs · HUUniversity of Regensburg · DE

Funding

GENETIC ANALYSIS OF BIPOLAR DISORDERR01MH058693 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI PATO, CARLOS N · 1999 to 2003
$3.5M
GENETIC ANALYSIS OF PSYCHOSISR01MH052618 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI PATO, CARLOS N · 1997 to 2001
$1.2M
NIMH NIH HHS MH058693NIMH NIH HHS MH52618
6 · The paper itself

Abstract

We previously performed a genome-wide linkage scan in Portuguese schizophrenia families that identified a risk locus on chromosome 5q31-q35. This finding was supported by meta-analysis of 20 other schizophrenia genome-wide scans that identified 5q23.2-q34 as the second most compelling susceptibility locus in the genome. In the present report, we took a two-stage candidate gene association approach to investigate a group of gamma-aminobutyric acid (GABA) A receptor subunit genes (GABRA1, GABRA6, GABRB2, GABRG2, and GABRP) within our linkage peak. These genes are plausible candidates based on prior evidence for GABA system involvement in schizophrenia. In the first stage, associations were detected in a Portuguese patient sample with single nucleotide polymorphisms (SNPs) and haplotypes in GABRA1 (P=0.00062-0.048), GABRP (P=0.0024-0.042), and GABRA6 (P=0.0065-0.0088). The GABRA1 and GABRP findings were replicated in the second stage in an independent German family-based sample (P=0.0015-0.043). Supportive evidence for association was also obtained for a previously reported GABRB2 risk haplotype. Exploratory analyses of the effects of associated GABRA1 haplotypes on transcript levels found altered expression of GABRA6 and coexpressed genes of GABRA1 and GABRB2. Comparison of transcript levels in schizophrenia patients and unaffected siblings found lower patient expression of GABRA6 and coexpressed genes of GABRA1. Interestingly, the GABRA1 coexpressed genes include synaptic and vesicle-associated genes previously found altered in schizophrenia prefrontal cortex. Taken together, these results support the involvement of the chromosome 5q GABAA receptor gene cluster in schizophrenia, and suggest that schizophrenia-associated haplotypes may alter expression of GABA-related genes.

Indexed as

Chromosome MappingChromosomes, Human, Pair 5Genetic Predisposition to DiseaseGermanyHaplotypesHumansLinkage DisequilibriumOligonucleotide Array Sequence AnalysisPedigreePolymorphism, Single NucleotidePortugalReceptors, GABA-AReference ValuesSchizophreniaReceptors, GABA-A

Identifiers

PMID16172613
OpenAlexW1997345848

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.