1. Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients
- Author
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Christine E. Seidman, Amanda C Garfinkel, Weng Khong Lim, Thu Thao Le, Antonio de Marvao, Risha Govind, Giuliana G. Repetti, Alexandre C. Pereira, Nicola Whiffin, Gabriela V. Silva, Cheng Xi Yang, James Yip, Charleston W. K. Chiang, Roddy Walsh, Roger Foo, Kallyandra Padilha, Jonathan G. Seidman, Hak Chiaw Tang, Jiashen Cai, Siew Ching Kong, Li Yang Loo, James S. Ware, Chee Jian Pua, Nevin Tham, Bangfen Pan, Paul J.R. Barton, Chiea Chuen Khor, Jing Xian Teo, Yasmin Bylstra, Saumya Shekhar Jamuar, Christopher S. Chen, Christopher N. Toepfer, Patrick Tan, An An Hii, Wan Xian Chan, Stuart A. Cook, Raymond Wong, Calvin W. L. Chin, Pei Min Lio, Paige Cloonan, Jourdan F. Ewoldt, Shi Qi Lim, Rachel Buchan, Wellcome Trust, Department of Health, Rosetrees Trust, British Heart Foundation, and Cardiology
- Subjects
Male ,0301 basic medicine ,TNNT2 ,population ,030204 cardiovascular system & hematology ,Cardiovascular ,Bioinformatics ,Muscle hypertrophy ,0302 clinical medicine ,Gene Frequency ,Troponin I ,Odds Ratio ,2.1 Biological and endogenous factors ,Aetiology ,Singapore ,education.field_of_study ,Troponin T ,Hypertrophic cardiomyopathy ,Single Nucleotide ,General Medicine ,Middle Aged ,Heart Disease ,ComputingMethodologies_DOCUMENTANDTEXTPROCESSING ,Female ,hypertrophy ,Cardiomyopathies ,cardiomyopathies ,Risk ,China ,Heterozygote ,Cardiomyopathy ,Heart Ventricles ,Population ,Polymorphism, Single Nucleotide ,TNNI3 ,03 medical and health sciences ,Asian People ,Clinical Research ,Genetics ,troponin I ,medicine ,Humans ,Polymorphism ,education ,Genetic Association Studies ,business.industry ,Original Articles ,Hypertrophy ,Cardiomyopathy, Hypertrophic ,medicine.disease ,Genetic architecture ,Founder ,030104 developmental biology ,Haplotypes ,Hypertrophic ,business - Abstract
Supplemental Digital Content is available in the text., Background: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry. Methods: We 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. Results: Singaporean HCM patients had significantly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%, P
- Published
- 2020
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