Joel T Rämö

Pharmacogenomic architecture of antihypertensive switching implicates neurotensin-NTSR1 signaling in ACE inhibitor-induced cough

This study identifies genetic loci associated with antihypertensive medication switching, implicating neurotensin-NTSR1 signaling in ACE inhibitor-induced cough and CYP3A4*22 in dCCB intolerance.

Discovering age- and sex-specific genetic risk factors in sensorineural hearing loss: genome-wide evidence from large-scale biobank studies

This study identifies 32 new SNHL risk loci through genome-wide meta-analyses of 531,059 individuals, including age- and sex-specific differences.

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.

Limited overlap between genetic effects on disease susceptibility and disease survival

The paper compares genetic effects on disease susceptibility and progression, finding limited overlap and suggesting larger samples or different progression measures are needed.

Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma

The paper identifies a rare variant in VE-PTP associated with CSC, varicose veins, and glaucoma using genome-wide data from multiple cohorts.

A FinnGen pilot clinical recall study for Alzheimer's disease

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

Clinical and Therapeutic Applications of Individual-level Tissue-Specific Imputed Transcriptomes

The paper imputes tissue-specific gene expression for 486,452 UK Biobank participants and demonstrates its use in prioritizing therapeutic targets and predicting phenotypic risk.

Genetic risk factors have a substantial impact on healthy life years

This study estimates the impact of genetic risk factors on disease burden using disability-adjusted life years (DALYs) and finds that both common and rare variants significantly contribute to healthy life years lost.

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.

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.

Polygenic risk score of alcohol consumption predicts alcohol-related morbidity and all-cause mortality

Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

The paper conducts GWAS and PheWAS on plasma lipid species to identify genetic associations and their links to diseases beyond traditional lipid measures.

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

This study assesses the association between polygenic risk scores for LDL-C and TG with CAD risk, finding a proportional relationship with lipid levels and partial independence from a CAD PRS.