Evidence map›Paper›PMID 29572551›Full record

ArticleScientific reports2018

Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease.

Silvia Sookoian, Diego Flichman, Martin E Garaycoechea, Carla Gazzi, Julio San Martino, Gustavo O Castaño, Carlos J Pirola

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
5.5field-weighted citation impact, top 3% 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

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.

  1. Pooled it
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  11. Effect of common genetic variants on the risk of cirrhosis in non-alcoholic fatty liver disease during 20 years of follow-up.Liver international : official journal of the International Association for the Study of the Liver · 2022
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  19. Frontiers in oncology · 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 at 3 institutions in 1 country.

Silvia SookoianUniversity of Buenos Aires, Institute of Medical Research A Lanari, Buenos Aires, Argentina. sookoian.silvia@lanari.fmed.uba.ar.ORCID 0000-0001-5929-5470
Diego FlichmanUniversity of Buenos Aires, School of Pharmacy and Biochemistry, Department of Virology, and National Scientific and Technical Research Council (CONICET), Ciudad Autonoma de Buenos Aires, Buenos Aires, Argentina.
Martin E GaraycoecheaHospital de Alta Complejidad en Red El Cruce, Department of Surgery, Buenos Aires, Argentina.
Carla GazziUniversity of Buenos Aires, Institute of Medical Research A Lanari, Department of Pathology, Buenos Aires, Argentina.
Julio San MartinoHospital Diego Thompson, San Martin, Department of Pathology, Buenos Aires, Argentina.
Gustavo O CastañoHospital Abel Zubizarreta, Department of Medicine and Surgery, Liver Unit, Buenos Aires, Argentina.
Carlos J PirolaUniversity of Buenos Aires, Institute of Medical Research A Lanari, Buenos Aires, Argentina. pirola.carlos@lanari.fmed.uba.ar.
Consejo Nacional de Investigaciones Científicas y Técnicas · ARHospital El Cruce · ARUniversidad de Buenos Aires · AR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Current knowledge on the genetic basis of nonalcoholic fatty liver disease (NAFLD) suggests that variants contributing not only to the disease predisposition but histological severity as well are located in genes that regulate lipid metabolism. We explored the role of rs641738 C/T located in TMC4 (transmembrane channel-like 4) exon 1 (p.Gly17Glu) and 500 bases- downstream of MBOAT7 gene (TMC4/MBOAT7), in the genetic risk for developing NAFLD in a case-control study. Our sample included 634 individuals (372 patients with NAFLD diagnosed by liver biopsy and 262 control subjects); genotyping was performed by a Taqman assay. Genotype frequencies in controls (CC: 84, CT: 137, TT: 41) and patients (CC: 134, CT: 178, TT: 60) were in Hardy-Weinberg equilibrium; minor allele frequency 40.8%. Our sample had 84-99% power if an additive genetic model is assumed for estimated odds ratios of 1.3-1.5, respectively. We found no evidence of association between rs641738 and either NAFLD (Cochran-Armitage test for trend, p = 0.529) or the disease severity (p = 0.61). Low levels of MBOAT7 protein expression were found in the liver of patients with NAFLD, which were unrelated to the rs641738 genotypes. In conclusion, the role of rs641738 in the pathogenesis of NAFLD is inconclusive.

Indexed as

Mutation, MissensePolymorphism, Single NucleotideAcyltransferasesAdultCase-Control StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMaleMembrane ProteinsMiddle AgedNon-alcoholic Fatty Liver DiseaseAcyltransferasesMBOAT7 protein, humanMembrane ProteinsTMC4 protein, human

Identifiers

PMID29572551
PMCPMC5865142
OpenAlexW2805781284

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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.