Evidence map›Paper›PMID 21897762›Full record

ArticleInternational journal of medical sciences2011

Translational medicine and reliability of single-nucleotide polymorphism studies: can we believe in SNP reports or not?

Antonis Valachis, Davide Mauri, Christodoulos Neophytou, Nikolaos P Polyzos, Lampriani Tsali, Antonios Garras, Evangelos G Papanikolau

Abstract read
In one paragraph

Article in International journal of medical sciences, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. TheCells · 2021
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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

7 authors.

Antonis ValachisOnkologkliniken Sörmland, Mälarsjukhuset, Eskilstuna, Sweden.
Davide Mauri
Christodoulos Neophytou
Nikolaos P Polyzos
Lampriani Tsali
Antonios Garras
Evangelos G Papanikolau

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe number of genetic association studies is increasing exponentially. Nonetheless, genetic association reports are prone to potential biases which may influence the reported outcome.

aimWe hypothesized that positive outcome for a determined polymorphism might be over-reported across genetic association studies analysing a small number of polymorphisms, when compared to studies analysing the same polymorphism together with a high number of other polymorphisms.

methodsWe systematically reviewed published reports on the association of glutathione s-transferase (GST) single-nucleotide polymorphisms (SNPs) and cancer outcome.

resultWe identified 79 eligible trials. Most of the studies examined the GSTM1, theGSTP1 Ile105Val mutation, and GSTT1polymorphisms (n = 54, 57 and 46, respectively). Studies analysing one to three polymorphisms (n = 39) were significantly more likely to present positive outcomes, compared to studies examining more than 3 polymorphisms (n=40) p = 0.004; this was particularly evident for studies analysing the GSTM1polymorphism (p =0.001). We found no significant associations between journal impact factor, number of citations, and probability of publishing positive studies or studies with 1-3 polymorphisms examined.

conclusionsWe propose a new subtype of publication bias in genetic association studies. Positive results for genetic association studies analysing a small number of polymorphisms (n = 1-3) should be evaluated extremely cautiously, because a very large number of such studies are inconclusive and statistically under-powered. Indeed, publication of misleading reports may affect harmfully medical decision-making and use of resources, both in clinical and pharmacological development setting.

Indexed as

Genetic Association StudiesPolymorphism, Single NucleotidePublication BiasTranslational Research, BiomedicalAllelesDatabases, BibliographicDecision MakingGlutathione TransferaseHumansJournal Impact FactorNeoplasm ProteinsNeoplasmsPubMedReproducibility of ResultsTreatment OutcomeGlutathione TransferaseNeoplasm Proteinsgenetic association studiesliterature biaspublication-biassingle-nucleotide polymorphismstranslational research.

Identifiers

PMID21897762
PMCPMC3167098

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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.