Abstract
Abstract
Background
Otosclerosis remains an unconfirmed explanation for Beethoven’s progressive deafness. We assessed susceptibility signals in his published genome.
Methods
A quality-filtered 138-site otosclerosis score and related 13-locus GWAS score were compared with 503 contemporary European reference individuals. Sensitivity and historical-clinical evidence were appraised. Three AHSG variants underwent targeted genotype and reference-panel comparison.
Results
Beethoven ranked at the 96.02nd and 95.83rd empirical percentiles; a post-hoc composite ranked at the 98.01st. Excluding five influential score sites lowered the first rank to 84.69%; removing nearby GWAS loci lowered the second to 83.90%. He was heterozygous for three serum-T50-lowering AHSG alleles; 50/503 comparators (9.94%) shared this unphased three-site genotype pattern.
Conclusion
These incomplete, related and uncalibrated analyses offer exploratory genetic and biological context but establish neither otosclerosis nor its contribution to Beethoven’s deafness.