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Updated: Sep 14, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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整个蛋白质组的孟德尔随机化和局部化分析确定了心脏导电障碍的新型蛋白质标

Zheng-Qi Song1, Yu-Peng Xu2, Yi-Qi Chen3

  • 1Department of Cardiology, The First Affiliated Hospital of Wenzhou Medical University, Nanbaixiang, Wenzhou, Zhejiang, China; The First Clinical Medical College, Wenzhou Medical University, Chashan, Wenzhou, Zhejiang, China.

Journal of cardiology
|July 22, 2025
PubMed
概括

这项研究确定了心脏导电障碍 (CCD) 的新型蛋白质标,包括CASP9和ASPH,为治疗提供了新的途径. 它还揭示了潜在的生物机制,如高血症,是CCD发展的基础.

关键词:
心脏导电障碍 心脏导电障碍药物目标是药物目标.血蛋白质中的蛋白质.整个蛋白质组的孟德尔随机化

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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