Samuli Ripatti

Clinical history shapes the predictive value of polygenic risk

The paper develops and validates polygenic risk scores (PRS) for 150 diseases and mortality using UK Biobank and FinnGen data, showing genetic information provides the largest predictive gains for certain diseases but not others.

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.

Genetic architecture of 67 oral diseases and their links to systemic diseases

This study identifies 105 genetic loci associated with 67 oral diseases and finds strong genetic correlations between oral and systemic conditions.

Effect of a Dietary Intervention on Weight Loss in Adults with High vs Low Genetic Predisposition to Higher BMI: A Randomized Diet Intervention Trial

This study evaluates if weight loss from a dietary intervention varies by genetic predisposition to higher BMI, finding no significant interaction between polygenic scores and intervention effectiveness.

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.

The impact of polygenic score and socioeconomic status in predicting risk for 19 complex diseases

This study examines how polygenic scores and socioeconomic status jointly influence risk for 19 diseases, finding distinct and partly interacting effects across populations.

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

Genetic Architecture and Risk Profile of Alcohol-Related Diseases

This study identifies 93 genetic loci associated with alcohol-related diseases using FinnGen data and shows polygenic risk scores can stratify risk for these diseases and related outcomes.

PGS Browser: a public platform for personalized polygenic score interpretation

The paper benchmarks polygenic scores in a large cohort, identifies top-performing models, and provides a public platform for PGS analysis and interpretation.

Twin study provides heritability estimates for 2,321 plasma proteins and assesses missing SNP heritability

The paper estimates heritability for 2,321 plasma proteins using twin data and finds that SNP-based heritability accounts for only half of the total genetic effects.

Refining fine-mapping: effect sizes and regional heritability

This paper improves fine-mapping by estimating effect sizes and regional heritability using FINEMAP, showing it captures more heritability than BOLT and provides better precision.

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

Transferability and accuracy of electronic health record-based predictors compared to polygenic scores

This study compares EHR-based phenotype risk scores (PheRS) and polygenic scores (PGS) for predicting 13 diseases, finding they capture independent information and improve prediction when combined.

Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery: a multi-ancestry study in 10 960 individuals from 9 biobanks

This study investigates genetic factors influencing weight loss from GLP1-RA and bariatric surgery in 10,960 individuals across 9 biobanks, finding no strong genetic associations with GLP1-RA effectiveness but a modest link between BMI polygenic scores and reduced bariatric surgery weight loss.

Regulatory variation at serotonin receptor 1F (HTR1F) modulates arousals and risk for sleep apnea

The paper identifies regulatory variation at HTR1F associated with sleep apnea risk and arousals, particularly in non-obese individuals.

Evaluation of polygenic scoring methods in five biobanks reveals greater variability between biobanks than between methods and highlights benefits of ensemble learning

This study evaluates polygenic scoring methods across five biobanks and finds that biobank differences outweigh method differences, with ensemble learning improving performance.

Genome-wide association analysis of plasma lipidome identifies 495 genetic associations

This study identifies 495 genetic associations with plasma lipid species using genome-wide analysis in 7,174 Finnish individuals and fine-mapping in 377,277 participants, revealing 9 novel loci and disease links.

The alpha-2A-adrenergic receptor (ADRA2A) modulates susceptibility to Raynaud's syndrome

This study identifies ADRA2A as a major risk locus for Raynaud's syndrome through genome-wide association analysis and functional validation in vascular smooth muscle cells.

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.

Longitudinal multi-omics study reveals common etiology underlying association between plasma proteome and BMI trajectories in adolescent and young adult twins

This study identifies proteins and genes associated with BMI and its changes in twins, showing shared genetic and environmental factors across proteome, transcriptome, and metabolome layers.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

OTTERS: A powerful TWAS framework leveraging summary-level reference data

OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.

Systematic comparison of family history and polygenic risk across 24 common diseases

This study compares family history and polygenic risk scores across 24 diseases, showing they provide complementary rather than interchangeable information about inherited disease risk.

Lipidome- and genome-wide study to understand sex differences in circulatory lipids

The paper examines sex differences in circulatory lipids and their genetic determinants using lipidomics and genome-wide association studies across multiple cohorts.

Leveraging global multi-ancestry meta-analysis in the study of Idiopathic Pulmonary Fibrosis genetics

This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

Communicating polygenic and non-genetic risk for atherosclerotic cardiovascular disease - An observational follow-up study

This study evaluates the impact of communicating polygenic and clinical risk scores for ASCVD via a web tool, finding that high-risk individuals made more health behavior changes.

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.

Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap

This study identifies eight novel genetic signals associated with asthma-COPD overlap through a genome-wide association analysis involving multiple cohorts.

Multiomics and digital monitoring during lifestyle changes reveal independent dimensions of human biology and health

The paper integrates multiomics and digital health data from 96 individuals over 16 months to identify independent molecular factors linked to health outcomes and lifestyle changes.