Antti A. Mäkitie

Restoring mechanophenotype reverts malignant properties of ECM-enriched vocal fold cancer

This study shows that restoring mechanophenotype or targeting YAP/TAZ can reverse malignant properties of vocal fold cancer by reducing nuclear YAP and β-catenin levels.

Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus

The paper integrates GWAS meta-analysis with human brain cell mapping to identify genetic loci and cell types involved in tinnitus, implicating the amygdala and midbrain.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

This study identifies five genetic loci associated with obstructive sleep apnoea and finds a causal link between BMI and OSA through polygenic risk scores and Mendelian randomization.

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

This study identifies 15 new risk loci for otosclerosis and replicates known associations, highlighting shared genetic links with skeletal structure and bone-related disorders.