Evidence map›Paper›PMID 40624472›Full record

ArticleBMC genomics2025

Uncovering genetic mechanisms associated with harmful use of alcohol in admixed Latin Americans.

Edson H B Amaral, Gabriela de S G Britto, Raquel B de São Pedro, Alberto O Moreira, Marília O Scliar, Ricardo Lyra, Natália P Lima, Caroline A Feitosa, Camila A V Figueiredo, Helena M Pitangueira and 8 more

Abstract read
In one paragraph

Article in BMC genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–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

2 citing papers in PubMed.

  1. Article
  2. 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

18 authors.

Edson H B AmaralInstituto de Biologia, Universidade Federal da Bahia, R. Barão de Jeremoabo, 668 - Ondina, Salvador, 1154, BA, Brazil.
Gabriela de S G BrittoInstituto de Biologia, Universidade Federal da Bahia, R. Barão de Jeremoabo, 668 - Ondina, Salvador, 1154, BA, Brazil.
Raquel B de São PedroInstituto de Biologia, Universidade Federal da Bahia, R. Barão de Jeremoabo, 668 - Ondina, Salvador, 1154, BA, Brazil.
Alberto O MoreiraInstituto de Biologia, Universidade Federal da Bahia, R. Barão de Jeremoabo, 668 - Ondina, Salvador, 1154, BA, Brazil.
Marília O ScliarCentro de Pesquisa em Genoma Humano e Células-Tronco, Universidade de São Paulo, São Paulo, Brazil.
Ricardo LyraDepartamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Natália P LimaPrograma de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas, Brazil.
Caroline A FeitosaEscola Bahiana de Medicina e Saúde Pública, Salvador, Brazil.
Camila A V FigueiredoInstituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Brazil.
Helena M PitangueiraInstituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Brazil.
Thiago Magalhães da SilvaDepartamento de Ciências Biológicas, Universidade Estadual do Sudoeste da Bahia, Jequié, Brazil.
Luydson R S VasconcelosInstituto Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil.
Rodrigo F CarmoUniversidade Federal do Vale do São Francisco, Petrolina, Brazil.
Maurício L BarretoCentro de Integração de Dados e Conhecimentos para Saúde, Fundação Oswaldo Cruz, Salvador, Brazil.
Eduardo Tarazona-SantosDepartamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Bernardo L HortaPrograma de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas, Brazil.
Ana L Brunialti-GodardDepartamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Pablo R S OliveiraInstituto de Biologia, Universidade Federal da Bahia, R. Barão de Jeremoabo, 668 - Ondina, Salvador, 1154, BA, Brazil. prsoliveira@ufba.br.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHarmful use of alcohol (HUA) refers to drinking patterns that are associated with increased risk of medical complications and adverse social impacts. HUA is a multifactorial condition, involving neurotransmission system alterations, environmental factors, and genetic predisposition. Previous studies have identified numerous genetic variants associated with alcohol-related phenotypes. However, the generalizability of these findings remains limited, as most studies have primarily focused on European and Asian populations, leaving other ethnic groups, such as Latino Americans, underrepresented. Here, we explored the genetic mechanisms underlying HUA in admixed Brazilians. HUA was evaluated in 2,840 individuals using the Alcohol Use Disorder Identification Test (AUDIT). Genetic variations were assessed using a genome-wide genotyping array, followed by genotype imputation. Ancestry patterns were estimated by comparing individual variants with those of reference populations. Association analysis was performed using multivariate logistic regression, and the functional impacts of variants were investigated through in silico analysis. Pathway enrichment and network analyses were conducted to identify potential genetic mechanisms underlying HUA.

resultsAncestry analysis confirmed the admixed nature of the study population, with lower levels of European ancestry significantly associated (p < 0.05, Mann-Whitney U test) with increased risk of HUA, suggesting potential ancestry-related genetic or socio-environmental factors contributing to alcohol-related behaviors. The genome-wide association study identified a significant association between the variant rs1097611 at 1p33 and HUA p = 4.88 × 10

conclusionsThis study identifies novel loci, particularly at 1p33 (CYP4B1), and genetic mechanisms potentially involved in HUA in an admixed Latin American population. Studies in diverse ethnic groups are crucial to uncover novel genetic risk variants for HUA and improve its management.

Indexed as

Alcohol DrinkingAlcoholismGenetic Predisposition to DiseaseHispanic or LatinoAdultBrazilFemaleGenome-Wide Association StudyGenotypeHumansLatin AmericaMaleMiddle AgedPolymorphism, Single NucleotideAdmixedGWASHarmful use of alcoholLatin Americans

Identifiers

PMID40624472
PMCPMC12232578

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LicenceCC BY-NC-ND
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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.