Evidence map›Paper›PMID 40841834›Full record

ArticleNature cardiovascular research2025

Region-specific gene expression and sex inform about disease susceptibility in the aorta.

Milagros C Romay, Feiyang Ma, Ana Mompeón, Michele Silvestro, Gloria E Hernandez, Jocelynda Salvador, Andrew L Wang, Marie Vandestienne, Nathalie Bardin, Marcel Blot-Chabaud and 4 more

Abstract readComparative Study
In one paragraph

Article in Nature cardiovascular research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

14 authors.

Milagros C RomayDepartment of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Feiyang MaDepartment of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-6260-0787
Ana MompeónDepartment of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.ORCID http://orcid.org/0000-0003-0257-078X
Michele SilvestroDivision of Vascular and Endovascular Surgery, Department of Surgery, New York University Langone Health, New York, NY, USA.
Gloria E HernandezDepartment of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.ORCID http://orcid.org/0000-0003-2882-811X
Jocelynda SalvadorDepartment of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Andrew L WangDepartment of Biological Sciences, Northwestern University, Evanston, IL, USA.
Marie VandestienneINSERM U970, Cardiovascular Research Center, Université de Paris, Paris, France.
Nathalie BardinINSERM 1263, INRA 1260, Aix-Marseille Université, Marseille, France.
Marcel Blot-ChabaudINSERM 1263, INRA 1260, Aix-Marseille Université, Marseille, France.
Aurelie S LeroyerINSERM 1263, INRA 1260, Aix-Marseille Université, Marseille, France.
Hafid Ait-OufellaINSERM U970, Cardiovascular Research Center, Université de Paris, Paris, France.ORCID http://orcid.org/0000-0002-2955-0183
Bhama RamkhelawonDivision of Vascular and Endovascular Surgery, Department of Surgery, New York University Langone Health, New York, NY, USA.
M Luisa Iruela-ArispeDepartment of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. arispe@northwestern.edu.ORCID http://orcid.org/0000-0002-3050-4168

Funding

Vascular Biology Training GrantT32HL069766 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LUSIS, ALDONS JAKE · 2002 to 2022
$7.4M
Vascular Growth and RegenerationR35HL140014 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI IRUELA-ARISPE, M. LUISA · 2018 to 2024
$6.6M
Spatiotemporal checkpoints of macrophages in aortic aneurysms- RenewalR01HL146627 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Bhama Ramkhelawon · 2019 to 2026
$6.1M
Precision Lifestyle Medicine and Translation Research (PREMIER)T32HL134634 · NHLBI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI RACHEL CASKEY, Jun Ma · 2018 to 2026
$2.4M
Northwestern University Molecular and Translational Cardiovascular Training ProgramT32HL134633 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MCNALLY, ELIZABETH M · 2017 to 2021
$1.6M
NHLBI NIH HHS R01 HL146627NHLBI NIH HHS R35 HL140014NHLBI NIH HHS T32 HL069766NHLBI NIH HHS T32 HL134633NHLBI NIH HHS T32 HL134634U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01HL146627U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R35HL140014U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) T32 HL1346334
6 · The paper itself

Abstract

Pathology in large vessels frequently develops at specific locations, implying that local stressors and spatially restricted gene expression are likely contributors to disease susceptibility. Here we perform single-cell transcriptomics in the carotids, the aortic arch and the thoracic and abdominal aorta to identify site- and sex-specific differences that could inform about vulnerability. Our findings revealed (1) regionally defined transcriptional profiles, (2) signatures associated with embryonic origins and (3) differential contributions of sex-specific effectors. Furthermore, cross-referencing regional-specific signatures with available genome-wide association study and expression quantitative trait loci databases identified 339 disease candidates associated with aorta distensibility, stiffness index and blood pressure. CPNE8 and SORBS2 were further evaluated and highlighted as strong causal candidates. Sex differences were predominantly observed in the thoracic and abdominal aorta. MCAM (CD146), a transcript with sex-skewed expression and lower in male mice and men, had significantly reduced expression in human aortic aneurysms. The findings reveal underlying diversity within vascular smooth muscle cell populations relevant to understanding site-specific and sex-specific variation of vascular pathologies.

Indexed as

Aorta, AbdominalAorta, ThoracicAortic Aneurysm, AbdominalAortic Aneurysm, ThoracicTranscriptomeAnimalsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiceMice, Inbred C57BLMuscle, Smooth, VascularPhenotype

Identifiers

PMID40841834
PMCPMC12436160

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.