Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome.

Jeanne L Theis, Sarah-Dana H Shatila,Zachary C Fogarty,William R Bamlet,Timothy M Olson

Circulation. Genomic and precision medicine（2023）

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摘要

Collectively, these findings suggest that common and rare alleles within unconventional myosin genes are associated with HLHS susceptibility. The identified candidate regulates cardiac sarcomerogenesis, supporting the hypothesis of intrinsic myogenic perturbation in arrested left heart development.

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关键词

MYO18B protein, human,genome-wide association study,heart defects, congenital,hypoplastic left heart syndrome,linkage disequilibrium,whole genome sequencing

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