Divergent trends in the incidence and mortality of acute myocardial ischaemic syndrome, especially in women. Evidence from Finland in 1996-2021.

Objective: Although the incidence and case fatality (CF) of acute myocardial ischaemic syndrome (AMIS) have declined in recent decades, some studies have suggested a potential stagnation in this decline. We examined if a similar development in AMIS trends can be observed in Finland from 1996 to 2021 among persons aged 35-74 years.

Methods: We linked Finnish country-wide Hospital Discharge- and Causes of Death- Registers covering the first non-fatal and fatal myocardial ischaemic events (total 69 906 442 person-years at risk).

Validation guidelines for drug-target prediction methods.

Introduction: Mapping the interactions between pharmaceutical compounds and their molecular targets is a fundamental aspect of drug discovery and repurposing. Drug-target interactions are important for elucidating mechanisms of action and optimizing drug efficacy and safety profiles. Several computational methods have been developed to systematically predict drug-target interactions.

Inherited infertility: Mapping loci associated with impaired female reproduction.

Female infertility is a common and complex health problem affecting millions of women worldwide. While multiple factors can contribute to this condition, the underlying cause remains elusive in up to 15%-30% of affected individuals. In our large genome-wide association study (GWAS) of 22,849 women with infertility and 198,989 control individuals from the Finnish population cohort FinnGen, we unveil a landscape of genetic factors associated with the disorder.

PGxDB: an interactive web-platform for pharmacogenomics research.

Pharmacogenomics, the study of how an individual's genetic makeup influences their response to medications, is a rapidly evolving field with significant implications for personalized medicine. As researchers and healthcare professionals face challenges in exploring the intricate relationships between genetic profiles and therapeutic outcomes, the demand for effective and user-friendly tools to access and analyze genetic data related to drug responses continues to grow. To address these challenges, we have developed PGxDB, an interactive, web-based platform specifically designed for comprehensive pharmacogenomics research.

GLS2 links glutamine metabolism and atherosclerosis by remodeling artery walls.

Metabolic dysregulation, including perturbed glutamine-glutamate homeostasis, is common among patients with cardiovascular diseases, but the underlying mechanisms remain largely unknown. Using the human MESA cohort, here we show that plasma glutamine-glutamate ratio is an independent risk factor for carotid plaque progression. Mice deficient in glutaminase-2 (Gls2), the enzyme that mediates hepatic glutaminolysis, developed accelerated atherosclerosis and susceptibility to catastrophic cardiac events, while Gls2 overexpression partially protected from disease progression.

Tear fluid reflects the altered protein expressions of Alzheimer's disease patients in proteins involved in protein repair and clearance system or the regulation of cytoskeleton.

Background: New biomarkers that improve diagnosis of Alzheimer's disease (AD) are warranted. Tear fluid (TF) containing variety of proteins that reflect pathophysiological changes of systemic diseases makes TF proteins potential biomarker candidates for AD.

Objective: We investigated the expression levels of TF proteins in persons with mild AD and cognitively healthy controls (CO) to find out if altered proteins may link to the AD pathophysiology.

Pre-diagnosis blood DNA methylation profiling of twin pairs discordant for breast cancer points to the importance of environmental risk factors.

Background: Assessment of breast cancer (BC) risk generally relies on mammography, family history, reproductive history, and genotyping of major mutations. However, assessing the impact of environmental factors, such as lifestyle, health-related behavior, or external exposures, is still challenging. DNA methylation (DNAm), capturing both genetic and environmental effects, presents a promising opportunity.

Probe set selection for targeted spatial transcriptomics.

Targeted spatial transcriptomic methods capture the topology of cell types and states in tissues at single-cell and subcellular resolution by measuring the expression of a predefined set of genes. The selection of an optimal set of probed genes is crucial for capturing the spatial signals present in a tissue. This requires selecting the most informative, yet minimal, set of genes to profile (gene set selection) for which it is possible to build probes (probe design).

Disease associations of natural killer (NK) cell KIR gene content variation in 352,783 Finns.

Allelic, gene presence/absence, and gene-copy number variations in the KIR genes encoding Natural Killer (NK) cell surface receptors have been reported to be associated in case-control studies with infectious and autoimmune diseases, and relapse after stem cell transplantation. To understand more comprehensively the role of KIR gene presence/absence variation and HLA-KIR interactions in disease susceptibility, we imputed from genome SNP data the presence and absence of 10 KIR genes in the FinnGen cohort. The cohort consists of 352,783 Finns with extensive phenotypes from the national health registries.

Oxidative Stress and Inflammation-Related mRNAs Are Elevated in Serum of a Finnish Wet AMD Cohort.

Purpose: Localized diseases can be affected by and affect the systemic environment via blood circulation. In this study, we explored the differences in circulating serum mRNAs between patients with wet AMD (wAMD) and controls.

Methods: Blood samples were obtained from 60 Finnish patients with wAMD and 64 controls.

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.

Traumatic life events as predictors for depression in middle-aged men and women: A Finnish twin study.

Background: We examined exposure to adulthood traumatic life events (TLEs) and their associations with depression in women and men. Then we examined whether those associations are independent of exposure loading and vulnerability including familial confounding.

Methods: The fourth survey in 2011 of the population-based Finnish Twin Cohort had 8410 participants (45 % men, mean age 60 years).

Development and evaluation of a web-based diet quality screener for vegans (VEGANScreener): a cross-sectional, observational, multicenter, clinical study.

Consumption of plant-based diets, including vegan diets, necessitates attention to the quality of the diet for the prevention and early detection of nutritional deficiencies. Within the VEGANScreener project, a unique brief screening tool for the assessment and monitoring of diet quality among vegans in Europe was developed. To provide a standardized tool for public use, a clinical study will be conducted to evaluate the VEGANScreener against a reference dietary assessment method and nutritional biomarkers.

Cancer incidence following non-neoplastic medical conditions: a prospective population-based cohort study.

Background And Purpose: Many non-neoplastic diseases have been established to be tumorigenic, and cancers are sometimes misdiagnosed as non-neoplastic diseases. We conducted a comprehensive registry-based study of site-specific cancer diagnosis risk following the diagnosis of any preceding medical condition (PMC) encoded by the International Classification of Diseases (ICD)-10 classification.

Material And Methods: We analyzed healthcare data and cancer data for a random population-based sample of 2.

A multiplex single-cell RNA-Seq pharmacotranscriptomics pipeline for drug discovery.

The gene-regulatory dynamics governing drug responses in cancer are yet to be fully understood. Here, we report a pipeline capable of producing high-throughput pharmacotranscriptomic profiling through live-cell barcoding using antibody-oligonucleotide conjugates. This pipeline combines drug screening with 96-plex single-cell RNA sequencing.