ArticleCirculation. Genomic and precision medicine2020
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in
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Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20citing papers in PubMed, 1 pooled it
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Circulation · 2024Pooled it
- Information content as a health system screening tool for rare diseases.NPJ digital medicine · 2025Article
- Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.Journal of the American Heart Association · 2025Article
- Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.Circulation · 2025Article
- From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.Journal of cardiovascular development and disease · 2025Review
- Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.JACC. Basic to translational science · 2025Review
- Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.Circulation · 2025Article
- Review
- The China Hypertrophic Cardiomyopathy Project (CHCMP): The Rationale and Design of a Multicenter, Prospective, Registry Cohort Study.Journal of cardiovascular translational research · 2024Article
- Assessing Cardiac Contractility From Single Molecules to Whole Hearts.JACC. Basic to translational science · 2024Review
- Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.Genetics in medicine open · 2024Article
- Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.Circulation. Genomic and precision medicine · 2023Article
- Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice.Nature medicine · 2023Article
- Lipid overload - a culprit for hypertrophic cardiomyopathy?The journal of cardiovascular aging · 2023Article
- Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling.Stem cell research & therapy · 2022Review
- Arrhythmias as Presentation of Genetic Cardiomyopathy.Circulation research · 2022Review
- Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2022Review
- Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.Frontiers in cardiovascular medicine · 2022Review
- Lowering the Recommended Maximal Wall Thickness Threshold Improves Diagnostic Sensitivity in Asians With Hypertrophic Cardiomyopathy.JACC. Asia · 2021Article
- A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.Journal of muscle research and cell motility · 2021Article
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Authors and funding
43 authors at 14 institutions in 6 countries.
Chee Jian PuaNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Nevin ThamNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Calvin W L ChinNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Roddy WalshDepartment of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, the Netherlands (R.W.).
Chiea Chuen KhorGenome Institute of Singapore (C.C.K., P.T., R.F.).
Christopher N ToepferDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Giuliana G RepettiDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Amanda C GarfinkelDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Jourdan F EwoldtDepartment of Biomedical Engineering, Boston University, MA (J.F.E., P.C., C.S.C.).
Paige CloonanDepartment of Biomedical Engineering, Boston University, MA (J.F.E., P.C., C.S.C.).
Christopher S ChenDepartment of Biomedical Engineering, Boston University, MA (J.F.E., P.C., C.S.C.).
Shi Qi LimNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Jiashen CaiDuke-National University of Singapore Medical School (C.W.L.C., J.C., S.S.J., S.A.C.).
Li Yang LooYong Loo Lin School of Medicine, National University Singapore (C.J.P., L.Y.L.).
Siew Ching KongNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Charleston W K ChiangCenter for Genetic Epidemiology, University of Southern California (C.W.K.C.).
Nicola WhiffinCardiovascular Research Center, Royal Brompton Hospital, London, United Kingdom (N.W., A.d.M., R.G., R.J.B., P.J.R.B., J.S.W., S.A.C.).
Antonio de MarvaoCardiovascular Research Center, Royal Brompton Hospital, London, United Kingdom (N.W., A.d.M., R.G., R.J.B., P.J.R.B., J.S.W., S.A.C.).
Pei Min LioNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
An An HiiNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Cheng Xi YangNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Thu Thao LeNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Yasmin BylstraSingHealth/Duke-NUS Precision Medicine Inst, Singapore (Y.B., W.K.L., J.X.T., P.T., S.S.J.).
Weng Khong LimSingHealth/Duke-NUS Precision Medicine Inst, Singapore (Y.B., W.K.L., J.X.T., P.T., S.S.J.).
Jing Xian TeoSingHealth/Duke-NUS Precision Medicine Inst, Singapore (Y.B., W.K.L., J.X.T., P.T., S.S.J.).
Kallyandra PadilhaDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Gabriela V SilvaDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Bangfen PanCardiovascular Research Institute, National University Health System, Singapore (B.P., R.F.).
Risha GovindCardiovascular Research Center, Royal Brompton Hospital, London, United Kingdom (N.W., A.d.M., R.G., R.J.B., P.J.R.B., J.S.W., S.A.C.).
Rachel J BuchanCardiovascular Research Center, Royal Brompton Hospital, London, United Kingdom (N.W., A.d.M., R.G., R.J.B., P.J.R.B., J.S.W., S.A.C.).
Paul J R BartonCardiovascular Research Center, Royal Brompton Hospital, London, United Kingdom (N.W., A.d.M., R.G., R.J.B., P.J.R.B., J.S.W., S.A.C.).
Patrick TanGenome Institute of Singapore (C.C.K., P.T., R.F.).
Roger FooGenome Institute of Singapore (C.C.K., P.T., R.F.).
James W L YipCardiology Department, National University Heart Centre, Singapore (J.W.L.Y., R.C.C.W., W.X.C.).
Raymond C C WongCardiology Department, National University Heart Centre, Singapore (J.W.L.Y., R.C.C.W., W.X.C.).
Wan Xian ChanCardiology Department, National University Heart Centre, Singapore (J.W.L.Y., R.C.C.W., W.X.C.).
Alexandre C PereiraDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Hak Chiaw TangNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Saumya Shekhar JamuarDuke-National University of Singapore Medical School (C.W.L.C., J.C., S.S.J., S.A.C.).
James S WareCardiovascular Research Center, Royal Brompton Hospital, London, United Kingdom (N.W., A.d.M., R.G., R.J.B., P.J.R.B., J.S.W., S.A.C.).
Jonathan G SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA (C.N.T., G.G.R., A.C.G., K.P., G.V.S., A.C.P., J.G.S., C.E.S.).
Stuart A CookNational Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Norwegian Womens Public Health Association · NORoyal Brompton Hospital · GBNational University of Singapore · SGSingHealth · SGBoston University · USNational University Heart Centre Singapore · SGUniversidade de São Paulo · BRNational University Health System · SGAmsterdam Neuroscience · NLAnna Needs Neuroblastoma Answers · USGenome Institute of Singapore · SGHoward Hughes Medical Institute · USJohn Radcliffe Hospital · GBUniversity of Southern California · US
Funding
Defining Pathways from Gene Mutation to Heart FailureR01HL080494 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHEN, CHRISTOPHER S, SEIDMAN, CHRISTINE E · 2005 to 2024
$9.4MBritish Heart Foundation SP/10/10/28431Medical Research Council MC_U120085815Medical Research Council MC_UP_1102/19Medical Research Council MC_UP_1102/20Wellcome Trust 107469/Z/15/ZWellcome Trust 206466/Z/17/Z
Abstract
backgroundTo assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry.
methodsWe sequenced HCM disease genes in Singaporean patients (n=224) and Singaporean controls (n=3634), compared findings with additional populations and White HCM cohorts (n=6179), and performed in vitro functional studies.
resultsSingaporean HCM patients had significantly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%,
conclusionsAs compared with Whites, Chinese HCM patients commonly have low penetrance risk alleles in
Indexed as
Asian PeopleCardiomyopathy, HypertrophicChinaFemaleGene FrequencyGenetic Association StudiesHaplotypesHeart VentriclesHeterozygoteHumansMaleMiddle AgedOdds RatioPolymorphism, Single NucleotideRiskSingaporeTNNI3 protein, humanTNNT2 protein, humanTroponin ITroponin Tcardiomyopathieshypertrophypopulationtroponin Itroponin T
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