Evidence map›Paper›PMID 42343218›Full record

ArticleBMC genomics2026

Quantitative trait loci mapping of gene expression and chromatin accessibility in primary fibroblasts reveals shared allelic effects between Latin American and European ancestries.

Toni A Boltz, Merel Bot, Sandra Lapinska, Tommer Schwarz, Kangcheng Hou, Kristina M Garske, Malika K Freund, Carrie E Bearden, Gabriel Macaya, Carlos Lopez-Jaramillo and 5 more

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Article in BMC genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Toni A BoltzDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. tboltz@broadinstitute.org.
Merel BotCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles, CA, USA.
Sandra LapinskaGraduate Group in Computational Biology, University of Pennsylvania, Philadelphia, PA, USA.
Tommer SchwarzDepartment of Bioinformatics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Kangcheng HouDepartment of Bioinformatics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Kristina M GarskeDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Malika K FreundDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Carrie E BeardenCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles, CA, USA.
Gabriel MacayaCenter for Research in Cellular and Molecular Biology, Universidad de Costa Rica, San José, Costa Rica.
Carlos Lopez-JaramilloDepartment of Psychiatry, University of Antioquia, Medellín, Antioquia, Colombia.
Nelson FreimerCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles, CA, USA.
Marco P BoksDepartment of Psychiatry, Amsterdam UMC, Amsterdam, The Netherlands.
Rene S KahnDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bogdan PasaniucDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Roel A OphoffDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. ophoff@g.ucla.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundQuantitative Trait Locus (QTL) analysis of molecular data has identified genetic variants associated with traits such as gene expression, and colocalization of these functional QTL with GWAS risk loci has offered insights into the genetic basis of human disease. We employed gene expression (RNA-seq) and chromatin accessibility (ATAC-seq) obtained from human primary fibroblasts to investigate quantitative trait loci (QTLs) in cohorts ascertained for bipolar disorder of European (n = 150) and Latin American (n = 96) ancestries.

resultsLeveraging data from three countries of origin (The Netherlands, Colombia, Costa Rica) within our cohort, we characterized differences among individuals at the SNP, gene, and accessible-chromatin levels to compute ancestry-specific expression (e)QTLs and chromatin-accessibility (ca)QTLs. Across ancestries, we observed R

conclusionsThese findings underscore the shared genetic regulatory mechanisms across European and Latin American ancestries, while demonstrating that ancestry-specific reference panels enhance the accuracy of TWAS and CWAS in diverse populations. More broadly, this study highlights the value of paired multi-omic datasets from diverse cohorts for interpreting disease-associated genetic variation.

Indexed as

AllelesChromatinFibroblastsQuantitative Trait LociCentral American PeopleChromosome MappingColombiaCosta RicaEuropean PeopleGenome-Wide Association StudyHumansLatin AmericaNetherlandsPolymorphism, Single NucleotideSouth American PeopleChromatinAdmixed ancestryBipolar disorderQuantitative trait

Identifiers

PMID42343218
PMCPMC13551787

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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.