Evidence map›Paper›PMID 28703442›Full record

ArticleJournal of clinical laboratory analysis2018

Measurement of absolute copy number variation of Glutathione S-Transferase M1 gene by digital droplet PCR and association analysis in Tunisian Rheumatoid Arthritis population.

Yosser Achour, Mohamed Sahbi Ben Kilani, Mariem Ben Hamad, Sameh Marzouk, Nadia Mahfoudh, Zouheir Bahloul, Leila Keskes, Elisabeth Petit-Teixeira, Abdellatif Maalej

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Article in Journal of clinical laboratory analysis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact, top 94% 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

4 citing papers in PubMed, 2 citations in OpenAlex.

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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

9 authors at 1 institution in 1 country.

Yosser AchourLaboratory of Human Molecular Genetics, Faculty of Medecine, Sfax, Tunisia.ORCID http://orcid.org/0000-0001-7307-3057
Mohamed Sahbi Ben KilaniGenHotel-EA3886, Evry University, Evry, France.
Mariem Ben HamadLaboratory of Human Molecular Genetics, Faculty of Medecine, Sfax, Tunisia.
Sameh MarzoukDepartment of Internal Medecine, University Hospital Hedi Chaker, Sfax, Tunisia.
Nadia MahfoudhLaboratory Services, University Hospital Hedi Chaker, Sfax, Tunisia.
Zouheir BahloulDepartment of Internal Medecine, University Hospital Hedi Chaker, Sfax, Tunisia.
Leila KeskesLaboratory of Human Molecular Genetics, Faculty of Medecine, Sfax, Tunisia.
Elisabeth Petit-TeixeiraGenHotel-EA3886, Evry University, Evry, France.
Abdellatif MaalejLaboratory of Human Molecular Genetics, Faculty of Medecine, Sfax, Tunisia.
Hopital Universitaire Hedi Chaker · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe investigation of copy number variations (CNVs) analysis of candidate genes is currently an important research area in modulating human diseases. We aimed to quantify CNVs in glutathione S-transferase M1 (GSTM1) gene and determine its genetic contribution in Tunisian rheumatoid arthritis (RA) and its subsets through an innovative technique for quantification.

methodsA total of 165 RA cases and 102 healthy controls were included in the study. Using a recently powerful approach of digital droplet PCR (ddPCR), we quantified GSTM1 gene to determine the presence of no, one, or multiple copy number (CN) at high levels of sensitivity and specificity. Odds ratio and Fisher exact test were performed to estimate the association risk for GSTM1CNVs in RA.

resultsCopy number identified by ddPCR was 0, 1, and 2 copies per diploid genome. A high frequency of '0' copy was revealed with 54% in RA patients. The deletion ('0' copy) of GSTM1 was found to be a significant risk factor for anti-cyclic citrullinated peptide (anti-CCP) positive RA (OR=4.16, CI

conclusionThis study highlights the powerful accuracy of ddPCR for the quantification of CNVs and suggests that the variation in the CN of GSTM1 is associated with anti-CCP positivity in RA. However, it does not indicate a specific role in the susceptibility to the disease in our Tunisian sample.

Indexed as

Arthritis, RheumatoidDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenetic TestingGlutathione TransferaseHumansMalePolymerase Chain ReactionGlutathione Transferasecopy number variantsdroplet digital PCRGSTM1rheumatoid arthritis

Identifiers

PMID28703442
PMCPMC6816960
OpenAlexW2735908522

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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.