Nina Mars

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.

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.

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.

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.

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.

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.

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.

Genetic analyses on the health impacts of testosterone highlight effects on female-specific diseases and sex differences

This study uses genetic data to examine testosterone's effects on health, finding sex-specific impacts on female reproductive health and complex associations with disease risk.

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.

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

The paper evaluates polygenic risk scores and clinical risk factors for predicting early-onset cardiometabolic diseases and cancers, showing comparable performance to clinical scores.

CCR5-del32 is not deleterious in the homozygous state in humans

The paper reanalyzes UK Biobank data and two population samples to show CCR5-del32 homozygosity is not associated with increased mortality or disease risk.

Genetics of 38 blood and urine biomarkers in the UK Biobank

UK Biobank genetics of 38 blood and urine lab tests yields 1,857 independent loci; combining biomarker and disease polygenic scores improves FinnGen prediction of incident renal failure and alcoholic cirrhosis.

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