Tarja Kokkola
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View article: Combining a computerized cognitive test with serum biomarkers improves detection of early-onset neurodegenerative disorders
Combining a computerized cognitive test with serum biomarkers improves detection of early-onset neurodegenerative disorders Open
Background Early diagnosis of early-onset dementia (EOD) is often challenging. Executive dysfunction is a common symptom in EOD, including Alzheimer's disease (AD). Currently, no specific tools for screening EOD at the primary health care …
View article: Predicting Alzheimer’s Disease Phenotypes With Aging Clocks: An Exploratory Analysis
Predicting Alzheimer’s Disease Phenotypes With Aging Clocks: An Exploratory Analysis Open
Background The continuous aging of the world’s population urges the improvement of early diagnosis of age-related diseases, such as Alzheimer’s disease (AD). Blood proteomes can detect systemic and organ-specific disease-related changes an…
View article: Scalable biological-cognitive profiling for Alzheimer’s disease in the population
Scalable biological-cognitive profiling for Alzheimer’s disease in the population Open
Plasma phosphorylated tau217 has been suggested as a core biomarker for establishing biological Alzheimer’s disease diagnosis. This blood biomarker has not been studied together with scalable cognitive assessment tools in population-based …
View article: Bayesian network imputation methods applied to multi-omics data identify putative causal relationships in a type 2 diabetes dataset containing incomplete data: An IMI DIRECT Study
Bayesian network imputation methods applied to multi-omics data identify putative causal relationships in a type 2 diabetes dataset containing incomplete data: An IMI DIRECT Study Open
Here we report the results from exploratory analysis using a Bayesian network approach of data originally derived from a large North European study of type 2 diabetes (T2D) conducted by the IMI DIRECT consortium. 3029 individuals (795 with…
View article: The dynamics of the gut microbiota in prediabetes during a four-year follow-up among European patients—an IMI-DIRECT prospective study
The dynamics of the gut microbiota in prediabetes during a four-year follow-up among European patients—an IMI-DIRECT prospective study Open
The Diabetes Research on Patient Stratification (DIRECT) study, an exploratory observational study initiated on October 15, 2012, was registered on ClinicalTrials.gov under the number NCT03814915.
View article: A Biological-Systems-Based Analyses Using Proteomic and Metabolic Network Inference Reveals Mechanistic Insights into Hepatic Lipid Accumulation: An IMI-DIRECT Study
A Biological-Systems-Based Analyses Using Proteomic and Metabolic Network Inference Reveals Mechanistic Insights into Hepatic Lipid Accumulation: An IMI-DIRECT Study Open
Objective To delineate organ-specific and systemic drivers of metabolic dysfunction-associated steatotic liver disease (MASLD), we applied integrative causal inference across clinical, imaging, and proteomic domains in individuals with and…
View article: Increased activity of Piezo1 channel in red blood cells is associated with Alzheimer's disease‐related dementia
Increased activity of Piezo1 channel in red blood cells is associated with Alzheimer's disease‐related dementia Open
INTRODUCTION Red blood cells (RBCs) are crucial for oxygen delivery to active tissues and endure significant mechanical forces in the microcirculatory bed. The enrichment of mechanosensitive Piezo1 channels, linked to the cytoskeleton, aid…
View article: Cross‐sectional study of plasma phosphorylated tau 217 in persons without dementia
Cross‐sectional study of plasma phosphorylated tau 217 in persons without dementia Open
INTRODUCTION Little is known about plasma phosphorylated tau 217 (p‐tau217) in individuals without a clinical diagnosis of Alzheimer's disease (AD). We studied associations of plasma p‐tau217 with age, sex, education, and genetic risk; est…
View article: Effect of ventricular volume on cerebrospinal fluid Alzheimer's disease biomarkers in patients with idiopathic normal pressure hydrocephalus
Effect of ventricular volume on cerebrospinal fluid Alzheimer's disease biomarkers in patients with idiopathic normal pressure hydrocephalus Open
Background Idiopathic normal pressure hydrocephalus (iNPH) is a common disorder in aging populations. Alzheimer's disease (AD) is a significant comorbidity in iNPH patients, and the presence of AD pathology is associated with worse shuntin…
View article: The L-type amino acid transporter 1 enhances drug delivery to the mouse pancreatic beta cell line (MIN6)
The L-type amino acid transporter 1 enhances drug delivery to the mouse pancreatic beta cell line (MIN6) Open
l-type amino acid transporter 1 (LAT1) is a membrane transporter responsible for carrying large, neutral l-configured amino acids as well as appropriate (pro)drugs into a cell. It has shown a great potential to improve drug delivery across…
View article: Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study
Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study Open
Aims/hypothesis Type 2 diabetes is a chronic condition that is caused by hyperglycaemia. Our aim was to characterise the metabolomics to find their association with the glycaemic spectrum and find a causal relationship between metabolites …
View article: TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease
TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease Open
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 o…
View article: Cross-sectional study of plasma phosphorylated Tau 217 in persons without dementia
Cross-sectional study of plasma phosphorylated Tau 217 in persons without dementia Open
Importance Blood levels of phosphorylated tau 217 (p-tau217) as measured by commercially available immunoassays are an emerging tool to assess Alzheimer’s disease (AD) pathology. Little is known about the performance of p-tau217 and contri…
View article: The Association of Cardiometabolic, Diet and Lifestyle Parameters With Plasma Glucagon-like Peptide-1: An IMI DIRECT Study
The Association of Cardiometabolic, Diet and Lifestyle Parameters With Plasma Glucagon-like Peptide-1: An IMI DIRECT Study Open
Context The role of glucagon-like peptide-1 (GLP-1) in type 2 diabetes (T2D) and obesity is not fully understood. Objective We investigate the association of cardiometabolic, diet, and lifestyle parameters on fasting and postprandial GLP-1…
View article: Recalling Biobank Participants to Clinical Study of Alzheimer’s Disease – FinnGen Pilot Study
Recalling Biobank Participants to Clinical Study of Alzheimer’s Disease – FinnGen Pilot Study Open
Background Population‐based biobanks that comprehensively ascertain health and genetic data hold promise to facilitate identification of Alzheimer’s disease (AD) trial participants. We conducted a pilot study in individuals with mild impai…
View article: TWINGEN – protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer’s disease
TWINGEN – protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer’s disease Open
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 o…
View article: Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits Open
View article: A FinnGen pilot clinical recall study for Alzheimer’s disease
A FinnGen pilot clinical recall study for Alzheimer’s disease Open
View article: Cerebrospinal Fluid Diagnostics of Alzheimer’s Disease in Patients with Idiopathic Normal Pressure Hydrocephalus
Cerebrospinal Fluid Diagnostics of Alzheimer’s Disease in Patients with Idiopathic Normal Pressure Hydrocephalus Open
Background: Alzheimer’s disease (AD) is the most common cause of dementia worldwide and a frequent comorbidity in idiopathic normal pressure hydrocephalus (iNPH). The presence of AD pathology is associated with worse outcomes after a shunt…
View article: Novel cerebrospinal fluid biomarkers correlating with shunt responsiveness in patients with idiopathic normal pressure hydrocephalus
Novel cerebrospinal fluid biomarkers correlating with shunt responsiveness in patients with idiopathic normal pressure hydrocephalus Open
Background Idiopathic Normal pressure hydrocephalus (iNPH) is a form of adult hydrocephalus that is clinically characterized by progressive gait impairment, cognitive dysfunction, and urinary incontinence. The current standard method of tr…
View article: Author Correction: Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models
Author Correction: Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models Open
View article: Protective Alzheimer's disease-associated APP A673T variant predominantly decreases sAPPβ levels in cerebrospinal fluid and 2D/3D cell culture models
Protective Alzheimer's disease-associated APP A673T variant predominantly decreases sAPPβ levels in cerebrospinal fluid and 2D/3D cell culture models Open
The rare A673T variant was the first variant found within the amyloid precursor protein (APP) gene conferring protection against Alzheimer's disease (AD). Thereafter, different studies have discovered that the carriers of the APP A673T var…
View article: A FinnGen pilot clinical recall study for Alzheimer’s disease
A FinnGen pilot clinical recall study for Alzheimer’s disease Open
Background 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 num…
View article: Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models
Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models Open
View article: Protective Alzheimer’s disease-associated APP A673T variant predominantly decreases sAPPβ levels in cerebrospinal fluid and 2D/3D cell culture models
Protective Alzheimer’s disease-associated APP A673T variant predominantly decreases sAPPβ levels in cerebrospinal fluid and 2D/3D cell culture models Open
Background:The rare A673T variant was the first variant found within the amyloid precursor protein (APP) gene conferring protection against Alzheimer’s disease (AD). Thereafter, different studies have discovered that the carriers of the AP…
View article: Concordance of Alzheimer’s Disease-Related Biomarkers Between Intraventricular and Lumbar Cerebrospinal Fluid in Idiopathic Normal Pressure Hydrocephalus
Concordance of Alzheimer’s Disease-Related Biomarkers Between Intraventricular and Lumbar Cerebrospinal Fluid in Idiopathic Normal Pressure Hydrocephalus Open
Background: Alzheimer’s disease cerebrospinal fluid (CSF) biomarkers amyloid-β 1–42 (Aβ42), total tau (T-tau), and phosphorylated tau 181 (P-tau181) are widely used. However, concentration gradient of these biomarkers between intraventricu…
View article: Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype
Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype Open
View article: Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study
Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study Open
View article: Inferring causal pathways between metabolic processes and liver fat accumulation: an IMI DIRECT study
Inferring causal pathways between metabolic processes and liver fat accumulation: an IMI DIRECT study Open
Type 2 diabetes (T2D) and non-alcoholic fatty liver disease (NAFLD) often co-occur. Defining causal pathways underlying this relationship may help optimize the prevention and treatment of both diseases. Thus, we assessed the strength and m…
View article: Profiles of Glucose Metabolism in Different Prediabetes Phenotypes, Classified by Fasting Glycemia, 2-Hour OGTT, Glycated Hemoglobin, and 1-hour OGTT: An IMI DIRECT Study
Profiles of Glucose Metabolism in Different Prediabetes Phenotypes, Classified by Fasting Glycemia, 2-Hour OGTT, Glycated Hemoglobin, and 1-hour OGTT: An IMI DIRECT Study Open
Differences in glucose metabolism among categories of prediabetes have not been systematically investigated. In this longitudinal study, participants (N=2111) underwent 2h-75g OGTT at baseline and 48 months. HbA1c was also measured.…