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The Pathologist / Issues / 2025 / October / Same Disease, Different DNA / Summary
Genetics and epigenetics Omics Screening and monitoring Molecular Pathology

Same Disease, Different DNA

Study finds Chinese heart disease patients have four times more rare genetic variants than UK counterparts

10/23/2025 News 2 min read
article Full Article Summary Notecard

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A study in Precision Clinical Medicine highlights significant genetic differences in hypertrophic cardiomyopathy (HCM) between Chinese and UK populations. Analysis of whole-exome sequencing from 593 Chinese patients and 1,232 UK patients revealed that 53 percent of the Chinese cohort carried rare variants in HCM-related genes, compared to 14 percent in the UK cohort. Both groups had similar rates of pathogenic variants. Ancestry-specific variants, including MYBPC3 c.3624del, were identified in the Chinese group, suggesting the need for population-specific data in diagnostic tools to improve accuracy for diverse populations.

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