ArticleArteriosclerosis, thrombosis, and vascular biology2026
Common Coronary Artery Disease Risk Variants in Endothelial Regulatory Elements Modulate Tetraspanin 14 Expression and Notch Signaling.
Vivian S Lee-Kim, Gavin R Schnitzler, Shi Fang, Neeka Mardani-Kamali, Xiangmeng Shawn Cai, Ran Cui, Aurelie E Barry, Miad Zandavi, Hyung-Jin Yoo, Shashi Kant and 5 more
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In one paragraphArticle in Arteriosclerosis, thrombosis, and vascular biology, 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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5 · Who and what moneyAuthors and funding
15 authors.
Vivian S Lee-KimBroad Institute of MIT and Harvard, Cambridge, MA (V.S.L.-K., G.R.S., S.F., R.C., M.Z., J.M.E., R.M.G.).ORCID 0000-0003-0578-7781 Gavin R SchnitzlerBroad Institute of MIT and Harvard, Cambridge, MA (V.S.L.-K., G.R.S., S.F., R.C., M.Z., J.M.E., R.M.G.).
Shi FangBroad Institute of MIT and Harvard, Cambridge, MA (V.S.L.-K., G.R.S., S.F., R.C., M.Z., J.M.E., R.M.G.).
Neeka Mardani-KamaliDivision of Cardiology and Center for Pulmonary and Vascular Biology, Department of Pediatrics, Heart Center, Children's Health (V.S.L.-K., N.M.-K.), University of Texas Southwestern Medical Center, Dallas.ORCID 0009-0005-0286-7462 Xiangmeng Shawn CaiDepartment of Genetics (X.S.C., J.M.E.), Stanford University School of Medicine, CA.ORCID 0000-0002-2466-4210 Ran CuiBroad Institute of MIT and Harvard, Cambridge, MA (V.S.L.-K., G.R.S., S.F., R.C., M.Z., J.M.E., R.M.G.).ORCID 0000-0002-3236-4082 Aurelie E BarryDivision of Cardiovascular Medicine and Division of Genetics, Department of Medicine (V.S.L.-K., G.R.S., S.F., A.E.B., H.-J.Y., R.M.G.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Miad ZandaviBroad Institute of MIT and Harvard, Cambridge, MA (V.S.L.-K., G.R.S., S.F., R.C., M.Z., J.M.E., R.M.G.).
Hyung-Jin YooDivision of Cardiovascular Medicine and Division of Genetics, Department of Medicine (V.S.L.-K., G.R.S., S.F., A.E.B., H.-J.Y., R.M.G.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA.ORCID 0000-0001-5467-8341 Shashi KantDivision of Cardiovascular Medicine, Department of Medicine (S.K.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA.ORCID 0000-0001-8772-6813 Ragini MahajanCenter for Theoretical Biological Physics (R.M., E.L.A.), Rice University, Houston, TX.ORCID 0000-0002-1038-0698 Suhas S P RaoDepartment of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston (S.S.P.R., E.L.A.).
Erez Lieberman AidenDepartment of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston (S.S.P.R., E.L.A.).ORCID 0000-0002-5754-1719 Jesse M EngreitzBroad Institute of MIT and Harvard, Cambridge, MA (V.S.L.-K., G.R.S., S.F., R.C., M.Z., J.M.E., R.M.G.).
Rajat M GuptaBroad Institute of MIT and Harvard, Cambridge, MA (V.S.L.-K., G.R.S., S.F., R.C., M.Z., J.M.E., R.M.G.).ORCID 0000-0001-9865-4106 Funding
Scientific Core: Perturb-seq library generation, sequencing, and data analysisP01HL180323 · NHLBI · STANFORD UNIVERSITY · PI THOMAS QUERTERMOUS · 2025 to 2026
$7.1MSingle-cell, multi-omic investigation of epicardial adipose and coronary endothelial dysfunction in type 1 diabetesU01DK142338 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI RAJAT M GUPTA, Amit Majithia · 2024 to 2026
$3.0MA genetic approach to identify the common mechanisms of vascular diseaseDP2HL152423 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI GUPTA, RAJAT M · 2019 to 2022
$2.8MHigh-throughput cellular genetics to connect noncoding variants to coronary artery disease genesR01HL164811 · NHLBI · BROAD INSTITUTE, INC. · PI JESSE M ENGREITZ, RAJAT M GUPTA · 2023 to 2026
$2.7MIdentifying the organotypic and disease-specific vascular cell populations by integrating single cell data with polygenic riskU01HL166060 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI GUPTA, RAJAT M, SEGRE, AYELLET VERED · 2022 to 2025
$2.2MTspan14 expression and function in cardiovascular diseaseR00HL163411 · NHLBI · UT SOUTHWESTERN MEDICAL CENTER · PI Vivian Lee-Kim · 2024 to 2026
$696kTspan14 expression and function in cardiovascular diseaseK99HL163411 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE-KIM, VIVIAN · 2022 to 2023
$258kMixed Lineage Kinase 2 (MLK2) and vascular homeostasisR03TR004452 · NCATS · BRIGHAM AND WOMEN'S HOSPITAL · PI KANT, SHASHI · 2023 to 2023
$173kNCATS NIH HHS R03 TR004452NHLBI NIH HHS DP2 HL152423NHLBI NIH HHS K99 HL163411NHLBI NIH HHS P01 HL180323NHLBI NIH HHS R00 HL163411NHLBI NIH HHS R01 HL164811NHLBI NIH HHS U01 HL166060NIDDK NIH HHS U01 DK142338
6 · The paper itselfAbstract
backgroundCoronary artery disease (CAD) is a complex condition and remains the leading cause of mortality worldwide. Genome-wide association studies have identified a CAD risk locus on chromosome 10q23 that is independent of traditional risk factors, providing an opportunity to uncover novel molecular mechanisms contributing to CAD pathogenesis.
methodsImproved fine-mapping approaches were used to prioritize noncoding variants at the 10q23 locus within the intronic region of
resultsFine-mapping identified 2 lead variants, rs17680741 and rs12260962, located within regulatory elements predicted to affect
conclusionsTogether, these data identify a regulatory element harboring CAD-associated variant at the 10q23 locus that modulates
Indexed as
Coronary Artery DiseaseEndothelial CellsPolymorphism, Single NucleotideReceptors, NotchTetraspaninsCells, CulturedGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPhenotypeSignal TransductionReceptors, NotchTetraspaninscoronary artery diseaseendothelial cellsgenetic variationgenome-wide association studyreceptor, Notch1tetraspanins
Identifiers
PMID42021732
PMCPMC13148780
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