Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry

Our findings suggested that patients of Chinese ancestry with HCM have a higher proportion of rare variants but are less likely to be classified as P/LP variants in HCM genes than those of European origin. The variants of c.3624del in <i>MYBPC3</i> and c.300C > G in <i>TNNT2</i> were specific to Chinese individuals and provide important insights into the ethnic differences of HCM genetic architecture.

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Publication Details

Journal
Precision Clinical Medicine
Published
2025-06-28
DOI
https://doi.org/10.1093/pcmedi/pbaf019
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00

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article

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry

Yongsan Yang, Jiajun Guo, Jinquan Zhang, Yuchi Han et al.
Precision Clinical Medicine
Cardiomyopathy and Myosin Studies
article

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry

Yongsan Yang, Jiajun Guo, Jinquan Zhang, Yuchi Han, Dominic Russ, Georgios V. Gkoutos, Jie Wang, Yucheng Chen, Heng Xu, Yuanwei Xu, Mengdi Yu, Lutong Pu, Ke Wan
article en

Abstract

Our findings suggested that patients of Chinese ancestry with HCM have a higher proportion of rare variants but are less likely to be classified as P/LP variants in HCM genes than those of European origin. The variants of c.3624del in <i>MYBPC3</i> and c.300C > G in <i>TNNT2</i> were specific to Chinese individuals and provide important insights into the ethnic differences of HCM genetic architecture.

Precision Clinical MedicineVol. 8(3)
Sichuan University (CN), West China Medical Center of Sichuan University (CN), The Ohio State University Wexner Medical Center (US), University College Birmingham (GB), West China Hospital of Sichuan University (CN), Health Data Research UK (GB), University of Birmingham (GB)
National Natural Science Foundation of China, Sichuan University, Natural Science Foundation of Sichuan Province, West China Hospital, Sichuan University
Openalex Percentile: Top 70%
Cardiomyopathy and Myosin Studies
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