Markus Perola
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View article: Federated Analysis of Cross-European Health Data: Improving CVD prediction with Machine Learning
Federated Analysis of Cross-European Health Data: Improving CVD prediction with Machine Learning Open
Background Federated analysis of nationwide health registers using machine learning could enhance cardiovascular disease (CVD) prediction. As a part of the HealthData@EU Pilot, the current study developed and validated CVD prediction model…
View article: Developing risk prediction models for type 2 diabetes and assessing the role of circulating metabolic biomarkers in five independent Finnish cohorts with over 22,000 individuals
Developing risk prediction models for type 2 diabetes and assessing the role of circulating metabolic biomarkers in five independent Finnish cohorts with over 22,000 individuals Open
The baseline model with clinical variables achieved a very good discrimination in predicting T2D. Models with metabolic variables were not able to meaningfully improve on it, as the high level set by the baseline left little room for impro…
View article: Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty Open
View article: Alzheimer and cardiovascular genetic scores and cognition: the FINGER randomized controlled trial
Alzheimer and cardiovascular genetic scores and cognition: the FINGER randomized controlled trial Open
Alzheimer's disease and coronary artery disease are common late-life chronic conditions and share multiple risk factors, including Apolipoprotein E (APOE) ε4 allele. A meta-analysis of two multidomain lifestyle intervention trials indicate…
View article: Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13
Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13 Open
Preeclampsia is a common pregnancy-specific vascular disorder that develops during the second half of pregnancy. Preeclampsia shares features with thrombotic microangiopathies. Here we analyzed whether sequence variants in the coagulation …
View article: Effects of parental autoimmune diseases on type 1 diabetes in offspring can be partially explained by HLA and non-HLA polymorphisms
Effects of parental autoimmune diseases on type 1 diabetes in offspring can be partially explained by HLA and non-HLA polymorphisms Open
Type 1 diabetes (T1D) and other autoimmune diseases (AIDs) often co-occur in families. Leveraging data from 58,284 family trios in Finnish nationwide registers (FinRegistry), we identified that, of 50 parental AIDs examined, 15 were associ…
View article: Electronic health records reveal variations in the use of blood units by hour and medical specialty
Electronic health records reveal variations in the use of blood units by hour and medical specialty Open
Background and Objectives Efficient blood supply chain requires accurate demand estimates. Blood demand is created by clinicians making transfusion decisions based on patient status. To better understand the use of blood units, we tracked …
View article: Polygenic risk for depression and career performance
Polygenic risk for depression and career performance Open
Introduction Major depression not only impairs individual health and labour market performance but also imposes significant economic burdens on society. It is linked to substantial costs through healthcare use, lost productivity and absent…
View article: Association between genetic proxies for neuroticism and labour market outcomes
Association between genetic proxies for neuroticism and labour market outcomes Open
Introduction Neuroticism, defined by a tendency to experience negative emotions such as anxiety and irritability, has significant public health implications, affecting both mental and physical health. It is also associated with poor career…
View article: Evidence-based criteria for identifying at-risk individuals requiring liver disease screening
Evidence-based criteria for identifying at-risk individuals requiring liver disease screening Open
Background: Liver fibrosis screening is recommended in at-risk groups, but a clear definition of “at risk” for entry criteria is lacking. We analyzed different combinations of established risk factors to define specific screening entry cri…
View article: Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study
Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study Open
We studied the iNPH-associated CWH43 LOF variants for the first time on a population-scale. Contrary to previously reported findings in smaller cohorts, our study revealed a low prevalence of these variants in the population-scale Finnish …
View article: Understanding rare genetic variants within the terminal pathway of complement system in preeclampsia
Understanding rare genetic variants within the terminal pathway of complement system in preeclampsia Open
View article: Towards modeling evolving longitudinal health trajectories with a transformer-based deep learning model
Towards modeling evolving longitudinal health trajectories with a transformer-based deep learning model Open
Health registers contain rich information about individuals' health histories. Here our interest lies in understanding how individuals' health trajectories evolve in a nationwide longitudinal dataset with coded features, such as clinical c…
View article: Divergent trends in the incidence and mortality of acute myocardial ischaemic syndrome, especially in women. Evidence from Finland in 1996–2021
Divergent trends in the incidence and mortality of acute myocardial ischaemic syndrome, especially in women. Evidence from Finland in 1996–2021 Open
AMIS mortality declined in all groups, but the decline in AMIS incidence slowed down and even stopped in women. Incidence was unchanged during the study period in women aged 35-54 years. These results emphasize the need for further efforts…
View article: Metabolomic and genomic prediction of common diseases in 700,217 participants in three national biobanks
Metabolomic and genomic prediction of common diseases in 700,217 participants in three national biobanks Open
View article: Electronic health records reveal variations in the use of blood units by hour and medical specialty
Electronic health records reveal variations in the use of blood units by hour and medical specialty Open
BACKGROUND AND OBJECTIVES Efficient blood supply chain requires accurate demand estimates. Blood demand is created by clinicians making transfusion decisions based on patient status. To better understand the use of blood units, we tracked …
View article: Health Impact Assessment in Personalized Prevention: three applications on pharmacogenomic testing
Health Impact Assessment in Personalized Prevention: three applications on pharmacogenomic testing Open
Background In recent years, literature on the efficacy of genetic and genomic tests has expanded, yet the impact of personalized prevention programs that include such tests remains understudied. Our study aims to test the use of the Health…
View article: Value of Pharmacogenetic Testing Assessed with Real‐World Drug Utilization and Genotype Data
Value of Pharmacogenetic Testing Assessed with Real‐World Drug Utilization and Genotype Data Open
Implementation of pharmacogenetic testing in clinical care has been slow and with few exceptions is hindered by the lack of real‐world evidence on how to best target testing. In this retrospective register‐based study, we analyzed a nation…
View article: Genetic Susceptibility to Acute Viral Bronchiolitis
Genetic Susceptibility to Acute Viral Bronchiolitis Open
Background Acute viral bronchiolitis is a major cause of infant hospitalizations worldwide. Childhood bronchiolitis is considered a risk factor for asthma, suggesting shared genetic factors and biological pathways. Genetic risk loci may pr…
View article: Risk Variants Associated With Normal Pressure Hydrocephalus
Risk Variants Associated With Normal Pressure Hydrocephalus Open
We identified 6 loci significantly associated with NPH in the thus far largest GWAS in chronic hydrocephalus. The genes near the top loci have previously been associated with blood-brain barrier and blood-CSF barrier function and with incr…
View article: ALT levels, alcohol use, and metabolic risk factors have prognostic relevance for liver-related outcomes in the general population
ALT levels, alcohol use, and metabolic risk factors have prognostic relevance for liver-related outcomes in the general population Open
View article: Deep learning-based prediction of one-year mortality in Finland is an accurate but unfair aging marker
Deep learning-based prediction of one-year mortality in Finland is an accurate but unfair aging marker Open
View article: A metabolic profile of xenon and metabolite associations with 6-month mortality after out-of-hospital cardiac arrest: A post-hoc study of the randomised Xe-Hypotheca trial
A metabolic profile of xenon and metabolite associations with 6-month mortality after out-of-hospital cardiac arrest: A post-hoc study of the randomised Xe-Hypotheca trial Open
Purpose Out-of-hospital cardiac arrest (OHCA) carries a relatively poor prognosis and requires multimodal prognostication to guide clinical decisions. Identification of previously unrecognized metabolic routes associated with patient outco…
View article: Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction Open
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of…
View article: Effects of parental autoimmune diseases on type 1 diabetes in offspring can be partially explained by HLA and non-HLA polymorphisms
Effects of parental autoimmune diseases on type 1 diabetes in offspring can be partially explained by HLA and non-HLA polymorphisms Open
SUMMARY Type 1 diabetes (T1D) and other autoimmune diseases (AIDs) often co-occur in families. Leveraging data from 58,284 family trios in Finnish nationwide registers (FinRegistry), we identified that, out of 50 parental AIDs examined, 15…
View article: The PROPHET project paves the way for personalized prevention in the future healthcare
The PROPHET project paves the way for personalized prevention in the future healthcare Open
The advances in 'omics technology, the reduction of genome sequencing costs, and the integration of digitalization have initiated a revolution in medicine and public health, transforming healthcare delivery towards an increased personaliza…
View article: Rare variants in genes coding for components of the terminal pathway of the complement system in preeclampsia
Rare variants in genes coding for components of the terminal pathway of the complement system in preeclampsia Open
Preeclampsia is a common multifactorial disease of pregnancy. Dysregulation of the complement activation is among emerging candidates responsible for disease pathogenesis. In a targeted exomic sequencing study we identified 14 variants wit…
View article: Patterns of reproductive health in inflammatory rheumatic diseases and other immune-mediated diseases: a nationwide registry study
Patterns of reproductive health in inflammatory rheumatic diseases and other immune-mediated diseases: a nationwide registry study Open
Objectives Rheumatic diseases may impair reproductive success and pregnancy outcomes, but systematic evaluations across diseases are lacking. We conducted a nationwide cohort study to examine the impact of rheumatic diseases on reproductiv…
View article: Genome-wide characterization of circulating metabolic biomarkers
Genome-wide characterization of circulating metabolic biomarkers Open
View article: Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women Open
PURPOSE Family history (FH) and pathogenic variants (PVs) are used for guiding risk surveillance in selected high-risk women but little is known about their impact for breast cancer screening on population level. In addition, polygenic ris…