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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America. >Novel genes/loci validate the small effect size of ERBB2 in patients with myasthenia gravis
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Novel genes/loci validate the small effect size of ERBB2 in patients with myasthenia gravis

机译:Novel genes/loci validate the small effect size of ERBB2 in patients with myasthenia gravis

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摘要

Recently, Chia et al. performed a genome-wide association study (GWAS) involving 1,873 patients diagnosed with myasthenia gravis and 36,370 healthy individuals to identify disease-associated genetic risk loci (1). They detected that the CHRNA1 and the previous association signals were confirmed. Then they employed a transcriptome-wide association study (TWAS) to test the effects of disease-associated polymorphisms on gene expression. CHRNB1 and ERBB2 were recognized as genes predicted to increase disease risk. We agree with their views on the function of CHRNB1 and ERBB2 in myasthenia gravis. Importantly, they indicated early- and late-onset cases have genetic differences. Apart from this, they also confirmed a genetic link between myasthenia gravis and other autoimmune diseases. Finally, Chia et al. identified potentially druggable genes/proteins and pathways. However, the authors did not investigate why ERBB2 had a small effect size in coloc-alization analysis, which prompted us to conduct further statistical analysis (1).

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