Publications
2026
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Population-scale immune multiome atlas reveals regulatory disease mechanisms
Most disease-associated genetic variants lie in non-coding regions^(1,2), yet mechanistic insights are limited by the lack of an empirical framework for characterizing the molecular consequences of regulatory variation. Single-cell molecular quantitative trait locus (QTL) mapping^(3,4) connects variants to gene regulation but lacks the power and simultaneous measurements to trace mechanisms from chromatin to expression⁵. Here we show that population-scale simultaneous profiling of chromatin... -
XXYLT1 and Mendelian Retinal Dystrophy
CONCLUSIONS AND RELEVANCE: This GWAS identified an association between XXYLT1 and IRD. These results affirm that GWAS in a founder population can be used as a potential tool for the discovery of rare mendelian disease genes and that XXYLT1 should be considered in clinical IRD gene panels. -
Early life and adulthood risk factors for middle age P-wave prolongation and left atrial enlargement
CONCLUSION: Excess BMI from childhood through adulthood is a key determinant of atrial remodelling in middle age. These findings highlight the long-term impact of early life adiposity and underscore the importance of lifelong weight management in preventing atrial cardiomyopathy and its clinical sequelae. -
Electrocardiographic left ventricular hypertrophy and sudden cardiac death
CONCLUSION: After adjustment for established SCD risk factors, Cornell product showed the strongest association with SCD events, with consistent finding whether ECG LVH criterion was present at baseline or developed during the follow-up. However, both the strength of association and discriminative performance were modest. -
Prediction of in-hospital atrial fibrillation after acute myocardial infarction: a cross-cohort study in Italian and Finnish patients
CONCLUSIONS: Our study demonstrates that machine learning models using routinely collected clinical parameters could help predict in-hospital AF in post-AMI patients across different populations and national healthcare systems. Notably, a simple and fully interpretable logistic regression model achieved robust performance in the first cross-national validation for this prediction task, suggesting that more complex, black-box approaches may offer limited additional benefit for this specific task.... -
Systematic multi-domain screening of lead-specific electrocardiographic features associated with sudden cardiac death
CONCLUSION: Systematic screening and utilizing the full prognostic potential of the 12‑lead ECG reveal several key elements of the electrical properties of the heart that associate with SCD. -
Polygenic Risk Impacts Lifetime Risk and Prognosis of Glaucoma
CONCLUSIONS: In this large biobank study, a glaucoma PRS effectively stratified individuals according to their lifetime risk of glaucoma, with substantial stratification evident already by midlife. The PRS provided a more precise risk assessment than family history alone, and it was effective in stratifying individuals based on several prognostic measures, including medical treatment escalation and surgical interventions. These findings support the potential usefulness of PRS-guided screening... -
Association and risk prediction of 19 complex diseases with polygenic scores and socioeconomic status
CONCLUSIONS: Genetic variation and social circumstances are linked to differences in disease risk both independently, and in combination with one another. Considering both factors modestly improves identification of higher-risk groups and highlights the value of accounting for social context alongside inherited variation in population-level assessments. -
Scalable biological-cognitive profiling for Alzheimer's disease in the population
Plasma phosphorylated tau217 has been suggested as a core biomarker for establishing a biological Alzheimer's disease diagnosis. This blood biomarker has not been studied together with scalable cognitive assessment tools in population-based samples. We investigated the prevalence of cognitive and Alzheimer's disease biomarker abnormalities and associations between plasma phosphorylated tau217 and remotely measured cognitive function in individuals without dementia. We used a population-based... -
Coronary Stenosis Location, Revascularization Strategy, and Sudden Cardiac Death in Chronic and Acute Coronary Syndromes
CONCLUSIONS: Left main and RCA stenoses were associated with the greatest SCD risk, with vessel-specific risk modified by revascularization strategy.
2025
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Genetic liability to psoriasis predicts severe disease outcomes
CONCLUSIONS: The psoriasis susceptibility PRS demonstrates utility and may be more effective than established epidemiological factors, as a stratification tool to identify those individuals that are at greatest risk of severe disease and may benefit most from early intervention. -
Defining optimal muscle surface area thresholds for sarcopenia-related mortality after cardiovascular interventions
CONCLUSIONS: Long-term mortality after a cardiovascular intervention increases linearly as the PMA value decreases. Patients with poor muscle status (Z-values below -1.5) seem to have consistently elevated mortality risk independent of other risk factors. -
The association between ST-segment depressions and sudden cardiac deaths and arrests after acute coronary syndrome
CONCLUSION: Lateral, inferolateral, and inferior ST-segment depressions in ECG after angiography in ACS patients are associated with a significantly higher long-term risk for SCD and SCA. -
Interatrial Block Detected by a Series of ECGs Before and During Acute Coronary Syndrome Predicts Atrial Fibrillation, Atrial Flutter, and Ischemic Stroke
CONCLUSIONS: Automatic detection of an IAB from serial ECGs reveals a strong association between atrial pathology and the risk of atrial fibrillation, atrial flutter, and ischemic stroke in patients with ACS. -
Electrocardiogram markers predicting ischemic stroke after acute coronary syndrome
CONCLUSIONS: ECG markers demonstrating LV dysfunction, LVH and atriopathy associate with IS risk after ACS, although external validation is still required. -
Impact of Heart Failure and Chronic Kidney Disease on All-Cause Mortality in Patients Undergoing Coronary Angiography: Results From the Finnish Kardio Multicentre Registry
CONCLUSIONS: In patients undergoing coronary angiography, HF and CKD were each independently associated with a twofold increased risk of all-cause mortality. Interaction effects suggest that the co-occurrence of HF and CKD synergistically amplifies this risk. These findings highlight the importance of identifying and managing cardiorenal comorbidity to improve outcomes in this high-risk population. -
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Frailty is a clinically relevant phenotype with notable gaps in our understanding of its etiology. Using the Hospital Frailty Risk Score (HFRS) to define frailty, we performed a genome-wide association study in FinnGen (N = 500,737), replicated the results in the UK Biobank (N = 407,463) and performed a meta-analysis. We prioritized genes through colocalization with expression, splicing and protein quantitative trait loci and proteomics integration. We identified 53 independent lead variants... -
Genetic Loci Associated With Periodontitis: The FinnGen Study Based on National Health Registers
CONCLUSIONS: Our GWAS suggests that genetic variation contributing to immune dysregulation is involved in the pathogenesis of periodontitis, which has considerable genetic similarity with other complex traits. -
Detection of congestive heart failure from RR intervals during long-term electrocardiographic recordings
CONCLUSION: We achieved high confidence in detecting CHF, with DDFA showing excellent classification accuracy, especially in multiclass tasks. This approach highlights the potential of noninvasive, cost-efficient RRI analysis for early detection of CHF and AF. -
Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease
Biallelic loss-of-function variants in TYROBP and TREM2 cause autosomal recessive presenile dementia with bone cysts known as Nasu-Hakola disease (NHD, alternatively polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL). Some other TREM2 variants contribute to the risk of Alzheimer's disease (AD) and frontotemporal dementia, while deleterious TYROBP variants are globally extremely rare and their role in neurodegenerative diseases remains unclear. The population...
2024
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Smoking and sudden cardiac death in patients with previous coronary artery disease
CONCLUSION: Active smokers had a 79% higher risk of SCD when compared with nonsmokers. Smoking cessation should be heavily encouraged after ACS. Also, a person's smoking status should be considered in further studies developing SCD and implantable cardioverter defibrillator-benefit risk scores. -
Novel loci and biomedical consequences of iron homoeostasis variation
Iron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported. Mapping to putative genes indicated involvement in iron-trait expression,... -
Predicting long-term risk of sudden cardiac death with automatic computer-interpretations of electrocardiogram
CONCLUSION: This proof-of-concept study shows that automatic interpretation of ECG identifies previously validated risk features for SCD. -
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations
Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results. In the meta-analysis, we identify 41... -
Magnetic Resonance Imaging - Derived Psoas Muscle Area and Survival in Patients Treated Invasively for Peripheral Arterial Disease
CONCLUSIONS: MRI-derived psoas muscle area may be a prognostic factor for clinical use. -
Diabetes and mortality risk in patients undergoing coronary angiography: The KARDIO study
CONCLUSION: In patients undergoing coronary angiography, diabetes is associated with an increased mortality risk, independent of several risk factors including the degree of CAD. The association may be modified by family history of CAD and smoking status. -
Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort
BACKGROUND AND OBJECTIVES: Large-scale genome-wide studies of chronic hydrocephalus have been lacking. We conducted a genome-wide association study (GWAS) in normal pressure hydrocephalus (NPH). -
Prediction of Sudden Cardiac Death With Ultra-Short-Term Heart Rate Fluctuations
CONCLUSIONS: Ultra-short-term DFA2 α(1), when measured at rest, is a powerful and independent predictor of SCD. The association between DFA2 α(1) and SCD is modified by physical exertion. -
TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer's disease
INTRODUCTION: A better understanding of the earliest stages of Alzheimer's disease (AD) could expedite the development or administration of treatments. Large population biobanks hold the promise to identify individuals at an elevated risk of AD and related dementias based on health registry information. Here, we establish the protocol for an observational clinical recall and biomarker study called TWINGEN with the aim to identify individuals at high risk of AD by assessing cognition, health and... -
The association between GRACE score at admission for myocardial infarction and the incidence of sudden cardiac arrests in long-term follow-up - the MADDEC study
Background. Sudden cardiac arrest (SCA), often also leading to sudden cardiac death (SCD), is a common complication in coronary artery disease. Despite the effort there is a lack of applicable prediction tools to identify those at high risk. We tested the association between the validated GRACE score and the incidence of SCA after myocardial infarction. Material and methods. A retrospective analysis of 1,985 patients treated for myocardial infarction (MI) between January 1st 2015 and December...
2023
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The prognostic significance of single-lead ST-segment resolution in ST-segment elevation myocardial infarction patients treated with primary PCI - A substudy of the randomized TOTAL trial
CONCLUSION: In a large international study of STEMI patients, STR < 70% 30-60 minutes post primary PCI in the ECG lead with the greatest STE at admission was associated with an increased rate of the composite of cardiovascular death, recurrent MI, cardiogenic shock, or new or worsening NYHA class IV heart failure at 1-year follow-up. Clinicians should pay attention to this simple ECG finding. -
Computed tomography -defined sarcopenia is associated with long-term survival among patients undergoing open thoracic aortic reconstruction
CONCLUSIONS: Psoas muscle sarcopenia status is associated with long-term mortality after open thoracic aortic surgery. -
The incidence of atrial fibrillation, new oral anticoagulation, stroke, and significant bleeds in patients receiving a new dual-chamber pacemaker
CONCLUSIONS: The incidence of new AF/AFL is high in this population. Remote monitoring is associated with higher diagnostic yields of AF/AFL and initiated anticoagulation, but not with stroke and significant bleeds. -
NTHL1 is a recessive cancer susceptibility gene
In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as analysed loss-of-function variants identified in DNA repair genes in the Finns from the Genome Aggregation Database. Additionally, we carried out a validation study of SERPINA3 c.918-1G>C, recently suggested for BC predisposition. We estimated the frequencies of 41 rare candidate variants in 38 genes by genotyping them in 2482-4101 BC patients and... -
Psoas muscle quantified muscle status and long-term mortality after cardiovascular interventions
CONCLUSIONS: Different psoas muscle measurements were significantly and very similarly associated with mortality among men but not among women. No single measurement stands out, although combining PMA and PMD seems to be a slightly stronger estimate in terms of effect size and should be considered in further studies. -
The Association Between Digoxin Use and Long-Term Mortality After Acute Coronary Syndrome
Digoxin is used to treat atrial fibrillation and heart failure. Previous studies have reported an association between digoxin and higher mortality, but the results have been conflicting. This study assessed the association between digoxin use and all-cause mortality using comprehensive health data of patients treated for acute coronary syndrome (ACS). This was a retrospective analysis of 8,388 consecutive ACS patients treated in Tays Heart Hospital between 2007 and 2017, with a follow-up until... -
A FinnGen pilot clinical recall study for Alzheimer's disease
Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks with comprehensive health and genetic data from large numbers of individuals hold promise to facilitate identification of trial participants, particularly when interventions need to start while symptoms are still mild, such as for Alzheimer's disease (AD). This study describes a process for clinical recall studies from FinnGen.... -
The 2023 wearable photoplethysmography roadmap
Photoplethysmography is a key sensing technology which is used in wearable devices such as smartwatches and fitness trackers. Currently, photoplethysmography sensors are used to monitor physiological parameters including heart rate and heart rhythm, and to track activities like sleep and exercise. Yet, wearable photoplethysmography has potential to provide much more information on health and wellbeing, which could inform clinical decision making. This Roadmap outlines directions for research and... -
Risk Factors for Ischemic Stroke After Acute Coronary Syndrome
Background Stroke incidence is elevated after acute coronary syndromes (ACS). The aim of this study was to characterize risk factors related to ischemic stroke (IS) after ACS. Methods and Results We conducted a retrospective registry study based on the data of 8049 consecutive patients treated for ACS between 2007 and 2018 in Tays Heart Hospital with a follow-up until December 31, 2020. Potential risk factors were identified by in-depth review of written hospital records and causes-of-death... -
Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry)
No abstract
2022
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Incidence of sudden cardiac arrest and sudden cardiac death after unstable angina pectoris and myocardial infarction
CONCLUSIONS: SCAs accounted for less than a third of all deaths due to cardiovascular causes among patients with previous ACS. Incidence of SCA is highest among STEMI and NSTEMI patients. After the hospital discharge, most of SCAs happen to NSTEMI patients. -
Underweight and obesity are related to higher mortality in patients undergoing coronary angiography: The KARDIO invasive cardiology register study
CONCLUSIONS: In patients undergoing coronary angiography, underweight and obesity class III are associated with increased mortality risk, and the lowest mortality was observed in the preobesity class. It appears the obesity paradox may be present in patients who undergo invasive coronary procedures. -
Incidence of stroke and mortality due to stroke after acute coronary syndrome
CONCLUSIONS: The risk of stroke among patients treated for ACS and the related mortality are still notable in a contemporary setting. A distinctive majority of strokes following ACS were ischemic especially early on after ACS. -
Multivariable Analysis of Pre-operative Brain Atrophy as a Predictor of Long Term Mortality After Carotid Endarterectomy
CONCLUSION: Brain atrophy independently predicts the long term post-operative mortality rate after CEA in a cohort containing mainly symptomatic patients. Future studies are needed to validate the results in prospective settings and in asymptomatic patients. -
Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen
CONCLUSION: In summary, this pilot suggests that recontacting FinnGen participants with the goal to collect a wide range of cognitive, behavioural and lifestyle information without additional engagement results in a low participation rate, but with reliable data. We suggest that such information be collected at enrolment, if possible, rather than via post hoc recontacting. -
Dawn of the Era of Individualized Genetic Profiling in the Prevention of Sudden Cardiac Death
No abstract -
High-risk ECG patterns in ST elevation myocardial infarction for mortality prediction
CONCLUSION: Higher heart rate, atrial fibrillation or flutter, LBBB and NIVCD are associated with worse outcome in all-comers with STEMI. Ischemia severity was not associated with impaired prognosis. -
The S1S2S3 electrocardiographic pattern - Prevalence and relation to cardiovascular and pulmonary diseases in the general population
CONCLUSION: In the general adult population, the prevalence of the S1S2S3 ECG pattern is markedly affected by the diagnostic ECG criteria. The S1S2S3-I pattern was associated with hypertension, while S1S2S3-II was associated with heart failure, and both associations were enhanced in men. The associations with other studied cardiovascular and pulmonary diseases were minor and not clinically useful for risk stratification. -
Interatrial block and P terminal force in the general population - Longitudinal changes, risk factors and prognosis
CONCLUSION: Traditional cardiovascular risk factors increase the risk of a new P-wave abnormality. Partial and advanced IAB are associated with increased AF risk. Surprisingly, P-wave abnormalities are often reversible during long-term follow-up in the general population. -
Risk of sudden cardiac death associated with QRS, QTc, and JTc intervals in the general population
CONCLUSION: Prolonged QRS durations and QTc intervals are associated with an increased risk of SCD. However, when the QTc interval is deconstructed into QRS and JTc intervals, the repolarization component (JTc) appears to have no independent prognostic value.
2021
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Prehospital Adenosine Diphosphate Receptor Blocker Use, Culprit Artery Flow, and Mortality in STEMI: The MADDEC Study
CONCLUSIONS: The newer ADP receptor blockers are associated with lower mortality and better culprit artery flow at presentation when compared with clopidogrel. There are no significant differences between the two newer drugs. As the drugs were mainly used during three consecutive periods, unmeasured confounding related to the development of cardiac care and changes in the population may contribute to the results. -
Treatment success and its predictors as well as the complications of catheter ablation for atrial fibrillation in a high-volume centre
CONCLUSIONS: Patient-related factors are the most significant predictors of treatment success. A relapse during a 3-month blanking period is associated with a very high risk of failure at 1 year. -
Statin use, development of sarcopenia, and long-term survival after endovascular aortic repair
CONCLUSIONS: Statin use is associated with lower long-term mortality among patients undergoing EVAR without predisposing to increased sarcopenia. -
Influence of early-life body mass index and systolic blood pressure on left ventricle in adulthood - the Cardiovascular Risk in Young Finns Study
CONCLUSIONS: High BMI in early-life confers a sustained effect on LVM and the risk for eccentric hypertrophy independently of adulthood risk factors. KEY MESSAGES Excess in BMI in early-life has an independent effect on LVM and the risk of developing eccentric hypertrophy regardless of overweight status in adulthood. Systolic blood pressure levels in early-life did not have an independent effect on LVM or LV remodeling. The clinical implication of this study is that primary prevention of obesity... -
The prognostic significance of T-wave inversion according to ECG lead group during long-term follow-up in the general population
CONCLUSIONS: The prognostic information of inverted T waves differs between anatomical lead groups. T-wave inversion in the anterior and lateral lead groups is independently associated with the risk of CHD, and lateral T-wave inversion is also associated with increased risk of mortality. Inverted T wave in the inferior lead group proved to be a benign phenomenon. -
Long-term outcome of intraventricular conduction delays in the general population
CONCLUSIONS: In a population study with long-term follow-up, NSIVCD and Minnesota definition of LBBB were independently associated with CV mortality. Other IVCDs had no significant impact on prognosis. The prognostic impact of LBBB and NSIVCD was affected by the definition of the conduction disorder. -
Brain atrophy predicts mortality after mechanical thrombectomy of proximal anterior circulation occlusion
CONCLUSIONS: Brain atrophy predicts 3-month mortality after MT of the ICA or the M1 independent of age, masseter sarcopenia, chronic ischemic lesions, or white matter lesions. -
Prospective Ultrasound Screening of Men With Cerebrovascular Disease for Abdominal Aortic Aneurysms
CONCLUSIONS: The male population with cerebrovascular disease is comorbid and frail. Only, moderate prevalence of abdominal aortic aneurysms can be found in this subpopulation. -
Association of masseter area and radiodensity with three-month survival after proximal anterior circulation occlusion
CONCLUSIONS: In acute ischemic stroke patients, MDavg and MAavg are independent predictors of 3-month survival after MT of the ICA or M1-MCA. A 1-SD increase in MDavg and MAavg was associated with a 39%-43% decrease in the probability of death during the first 3 months after MT.