Journal: eBioMedicine

Article Title: Multi-ancestry genome-wide association study of serum creatine kinase implicates myopathy genes and muscle pathways

doi: 10.1016/j.ebiom.2026.106274

Figure Lengend Snippet: Multi-ancestry genome-wide association and tissue/cell-type enrichment analyses. (A) Manhattan plot of multi-ancestry GWAS results for CK across all autosomes; the red dashed line denotes the genome-wide significance threshold (P = 5 × 10 −8 ). Previously unreported lead SNPs are shown in red; for clarity only previously unreported loci with exonic lead SNPs are annotated with mapped genes. The y axis is capped at −log 10 (P) = 50; peaks exceeding this value are truncated and marked with arrows, with lead variants and mapped genes rs7305678 (CD163/APOBEC1), rs11559024 (CKM), rs12975366 (LILRB5) and rs7481951 (ANO5). (B & C) MAGMA tissue and cell-type enrichment analysis based on (B) GTEx expression data, (C) Human Protein Atlas single-cell expression profiles; the dashed line indicates the Bonferroni-corrected significance threshold, and significant tissues and cell types are shown in red.

Article Snippet: Single-cell transcriptomic data from the Human Protein Atlas further supported these findings, showing significant enrichment in skeletal myocytes ( P = 4.39 × 10 −7 ) and cardiomyocytes ( P = 2.39 × 10 −4 ) among 81 evaluated cell types, with monocytes ranking third ( P = 3.23 × 10 −3 ), though not significant after multiple testing correction ( C; ).

Techniques: GWAS, Genome Wide, Expressing, Single Cell