Article ; Online: Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.
Circulation. Genomic and precision medicine
2022 Volume 15, Issue 2, Page(s) e003536
Abstract: Background: Variable penetrance and late-onset phenotypes are key challenges for classifying causal as well as incidental findings in inherited cardiac conditions. Allele frequencies of variants in ancestry-specific populations, along with clinical ... ...
| Abstract | Background: Variable penetrance and late-onset phenotypes are key challenges for classifying causal as well as incidental findings in inherited cardiac conditions. Allele frequencies of variants in ancestry-specific populations, along with clinical variant analysis and interpretation, are critical to determine their true significance. Methods: Here, we carefully reviewed and classified variants in genes associated with inherited cardiac conditions based on a population whole-genome sequencing cohort of 4810 Singaporeans representing Southeast Asian ancestries. Results: Eighty-nine (1.85%) individuals carried either pathogenic or likely pathogenic variants across 25 genes. Forty-six (51.7%) had variants in causal genes for familial hyperlipidemia, but there were also recurrent variants in Conclusions: Our findings highlight the incidence of disease-related variants in inherited cardiac conditions and emphasize the value of large-scale sequencing in specific ancestries. Follow-up detailed phenotyping and analysis of pedigrees are crucial because assigning pathogenicity will significantly affect clinical management for individuals and their family members. |
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| MeSH term(s) | Arrhythmias, Cardiac/genetics ; Asians/genetics ; Cohort Studies ; Humans ; Pedigree ; Phenotype |
| Language | English |
| Publishing date | 2022-02-07 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ISSN | 2574-8300 |
| ISSN (online) | 2574-8300 |
| DOI | 10.1161/CIRCGEN.121.003536 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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