Evidence map›Paper›PMID 26219465›Full record

ArticleBMC genetics2015

Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations.

Ana Cecilia Pontoriero, Julieta Trinks, María Laura Hulaniuk, Mariela Caputo, Lisandro Fortuny, Leandro Burgos Pratx, Analía Frías, Oscar Torres, Félix Nuñez, Adrián Gadano and 3 more

Open access · diamondAbstract read
In one paragraph

Article in BMC genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 3 pooled it
1.1field-weighted citation impact, top 22% 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

22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 43 citations in OpenAlex.

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  15. Alcoholic Liver Disease.Clinical liver disease · 2022
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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

13 authors at 3 institutions in 1 country.

Ana Cecilia PontorieroInstituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. ana.pontoriero@hospitalitaliano.org.ar.
Julieta TrinksInstituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. julieta.trinks@hospitalitaliano.org.ar.
María Laura HulaniukInstituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. maria.hulaniuk@hospitalitaliano.org.ar.
Mariela CaputoNational Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. caputomariela@yahoo.com.ar.
Lisandro FortunyServicio de Medicina Transfusional, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. lisandro.fortuny@hospitalitaliano.org.ar.
Leandro Burgos PratxServicio de Medicina Transfusional, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. leandro.burgos@hospitalitaliano.org.ar.
Analía FríasServicio de Medicina Transfusional, Hospital Materno Infantil "Ramón Sardá", Esteban de Luca 2151, C1246ABQ, Buenos Aires, Argentina. analia.frias@hotmail.com.
Oscar TorresServicio de Medicina Transfusional, Hospital Materno Infantil "Ramón Sardá", Esteban de Luca 2151, C1246ABQ, Buenos Aires, Argentina. owtorres@gmail.com.
Félix NuñezServicio de Medicina Transfusional, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. felix.nunez@hospitalitaliano.org.ar.
Adrián GadanoServicio de Hepatología, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. adrian.gadano@hospitalitaliano.org.ar.
Pablo ArgibayInstituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. pablo.argibay@hospitalitaliano.org.ar.
Daniel CorachNational Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. dcorach@ffyb.uba.ar.
Diego FlichmanNational Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. dflichman@ffyb.uba.ar.
Hospital Italiano de Buenos Aires · ARCentro Científico Tecnológico - San Juan · ARUniversity of Buenos Aires · AR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe global burden of chronic liver disease is rising. Besides environmental, behavioral, viral and metabolic factors, genetic polymorphisms in patatin-like phospholipase-3 (PNPLA3) and vitamin D receptor (VDR) genes have been related to the development of chronic liver disease and progression towards liver cancer. Although their prevalence differs remarkably among ethnic groups, the frequency of these polymorphisms in South American populations -whose genetic background is highly admixed- has been poorly studied. Hence, the aim of this study was to characterize polymorphisms related to chronic liver disease and their association with the genetic ancestry of South American populations.

resultsDNA samples from 258 healthy unrelated male volunteers were analyzed. The frequencies of G and C alleles of rs738409 polymorphism (PNPLA3 gene) were 74 % and 26 %, respectively; whereas the bAt (CCA) haplotype (VDR gene) was observed in 32.5 % of the samples. The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with an increased risk of chronic liver disease and progression towards liver cancer- were significantly more frequent among samples exhibiting maternal and paternal Native American haplogroups (63.7 % and 64.6 %), intermediate among admixed samples (45.1 % and 44.9 %; p = 0.03) and the lowest for Non-native American ancestry (30.1 % and 29.6 %; p = 0.001 and p = 0.0008).

conclusionsThese results suggest that individuals with Native American ancestry might have a high risk of chronic liver disorders and cancer. Furthermore, these data not only support the molecular evaluation of ancestry in multi-ethnic population studies, but also suggest that the characterization of these variants in South American populations may be useful for establishing public health policies aimed at high risk ethnic communities.

Indexed as

Genetic Predisposition to DiseasePolymorphism, GeneticAllelesChronic DiseaseEthnicityGene FrequencyGenotypeHumansLiver DiseasesMalePolymorphism, Single NucleotidePrevalenceRiskRisk FactorsSouth America

Identifiers

PMID26219465
PMCPMC4518515
OpenAlexW1854968613

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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.