Evidence map›Paper›PMID 19528963›Full record

ArticleMolecular psychiatry2010

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.

B Rodríguez-Santiago, A Brunet, B Sobrino, C Serra-Juhé, R Flores, Ll Armengol, E Vilella, E Gabau, M Guitart, R Guillamat and 7 more

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular psychiatry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 2 pooled it
5.2field-weighted citation impact, top 4% 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

44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 87 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Trial
  5. Article
  6. Article
  7. Redox and Immune Signaling in Schizophrenia: New Therapeutic Potential.The international journal of neuropsychopharmacology · 2023
    Review
  8. Review
  9. Neuropsychiatric disease and treatment · 2023
    Article
  10. Oxidative Stress and Emergence of Psychosis.Antioxidants (Basel, Switzerland) · 2022
    Review
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. Review
  20. GlutathioneScience signaling · 2019
    Article
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

17 authors at 8 institutions in 1 country.

B Rodríguez-SantiagoUnitat de Genètica, Universitat Pompeu Fabra, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
A Brunet
B Sobrino
C Serra-Juhé
R Flores
Ll Armengol
E Vilella
E Gabau
M Guitart
R Guillamat
L Martorell
J Valero
A Gutiérrez-Zotes
A Labad
A Carracedo
X Estivill
L A Pérez-Jurado
Corporació Sanitària Parc Taulí · ESInstitut d'Investigació Sanitària Pere Virgili · ESCentre for Biomedical Network Research on Rare Diseases · ESCentro de Investigación Biomédica en Red de Epidemiología y Salud Pública · ESCenter for Research in Molecular Medicine and Chronic Diseases · ESCentro de Investigación Biomédica en Red · ESInstitut Pere Mata · ESPompeu Fabra University · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy number variants (CNVs) are a substantial source of human genetic diversity, influencing the variable susceptibility to multifactorial disorders. Schizophrenia is a complex illness thought to be caused by a number of genetic and environmental effects, few of which have been clearly defined. Recent reports have found several low prevalent CNVs associated with the disease. We have used a multiplex ligation-dependent probe amplification-based (MLPA) method to target 140 previously reported and putatively relevant gene-containing CNV regions in 654 schizophrenic patients and 604 controls for association studies. Most genotyped CNVs (95%) showed very low (<1%) population frequency. A few novel rare variants were only present in patients suggesting a possible pathogenic involvement, including 1.39 Mb overlapping duplications at 22q11.23 found in two unrelated patients, and duplications of the somatostatin receptor 5 gene (SSTR5) at 16p13.3 in three unrelated patients. Furthermore, among the few relatively common CNVs observed in patients and controls, the combined analysis of gene copy number genotypes at two glutathione S-transferase (GST) genes, GSTM1 (glutathione S-transferase mu 1) (1p13.3) and GSTT2 (glutathione S-transferase theta 2) (22q11.23), showed a statistically significant association of non-null genotypes at both loci with an additive effect for increased vulnerability to schizophrenia (odds ratio of 1.92; P=0.0008). Our data provide complementary evidences for low prevalent, but highly penetrant chromosomal variants associated with schizophrenia, as well as for common CNVs that may act as susceptibility factors by disturbing glutathione metabolism.

Indexed as

AdultAgedFemaleGene DosageGene DuplicationGenetic Predisposition to DiseaseGenetic VariationGenomicsGenotypeGlutathione TransferaseHumansMaleMiddle AgedPrevalenceRisk FactorsSchizophreniaGlutathione TransferaseGSTT2 protein, human

Identifiers

PMID19528963
OpenAlexW2032564883

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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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.