{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T01:09:16Z","timestamp":1789607356427,"version":"build-2803163510"},"reference-count":95,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Medical and Health Technology Innovation Project of the Chinese Academy of Medical Sciences","award":["2021-I2M-1-009"],"award-info":[{"award-number":["2021-I2M-1-009"]}]},{"name":"National Key Technology R&D Program from the Ministry of Science and Technology of China","award":["2015BAI12B02"],"award-info":[{"award-number":["2015BAI12B02"]}]},{"name":"CAMS Innovation Fund for Medical Science","award":["2021-I2M-1-011"],"award-info":[{"award-number":["2021-I2M-1-011"]}]},{"DOI":"10.13039\/501100005090","name":"Beijing Nova Program","doi-asserted-by":"publisher","award":["Z211100002121035"],"award-info":[{"award-number":["Z211100002121035"]}],"id":[{"id":"10.13039\/501100005090","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:sec id=\"sec001\">\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Heart failure (HF) is a serious cardiovascular condition resulting from abnormalities in multiple biological processes, affecting over 64 million people worldwide. We sought to expand our understanding of the genetic basis of HF and more specific NICM subtype in the East Asian populations and evaluate the biological pathways underlying subclinical left ventricular dysfunction.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec002\">\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      We conducted a meta-analysis of genome-wide association studies (GWAS) for all-cause HF in the East Asian populations (N cases\u2009~\u200913,385) and a more precise definition of nonischemic cardiomyopathy (NICM) subtype in multi-ancestry populations (N cases~3,603). We identified a low-frequency East-Asian enriched coding variant near\n                      <jats:italic>MYBPC3<\/jats:italic>\n                      and a NICM specific locus. Follow up analyses demonstrated male-specific HF association at the\n                      <jats:italic>\n                        <jats:italic>M<\/jats:italic>\n                        YBPC3\n                      <\/jats:italic>\n                      locus, and highlighted\n                      <jats:italic>SVIL<\/jats:italic>\n                      as a candidate causal gene for NICM. Moreover, we demonstrated that\n                      <jats:italic>SVIL<\/jats:italic>\n                      deficiency aggravated cardiomyocyte hypertrophy, apoptosis and impaired cell viability in phenylephrine (PE)-treated H9C2 cells. In addition, the gene expression level of B-type natriuretic peptide (\n                      <jats:italic>BNP<\/jats:italic>\n                      ) which was deemed as a hallmark for HF was further elevated by\n                      <jats:italic>SVIL<\/jats:italic>\n                      silencing in PE-stimulated H9C2 cells. RNA-sequencing analysis of H9C2 cells revealed that the function of\n                      <jats:italic>SVIL<\/jats:italic>\n                      might be mediated through pathways relevant to regulation and differentiation of heart muscle.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec003\">\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      These results enhance our understanding of the genetic architecture of HF in the East Asian populations, and provide important insight into the biological pathways underlying NICM and sex-specific relevance of the\n                      <jats:italic>MYBPC3<\/jats:italic>\n                      locus that warrants further replication in another datasets.\n                    <\/jats:p>\n                  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