Marjo‐Riitta Järvelin

Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

Genome-wide analysis of social behaviour in context: a meta-regression approach across social domains, reporters and developmental stages

This study uses genome-wide meta-regression to analyze social behavior across different contexts, ages, and reporters, identifying six genetic loci and showing modest heritability.

A framework for conducting time-varying genome-wide association studies: An application to body mass index across childhood in six multiethnic cohorts

The paper introduces a framework for time-varying GWAS to identify age-varying genetic effects on BMI across childhood, finding 28 genome-wide significant variants, including a novel one in DAOA.

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

Genome-wide association study of placental weight in 179,025 children and parents reveals distinct and shared genetic influences between placental and fetal growth

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

Adolescents' dietary habits and meal patterns influence school performance in the Northern Finland Birth Cohort 1986: mendelian randomisation study

This study uses observational and Mendelian randomisation analyses to show that high-fat, high-salt, and high-sugar (HFSS) diets negatively affect school performance, while healthy and traditional foods positively influence it.

Genetic fine-mapping from summary data using a non-local prior improves detection of multiple causal variants

This paper introduces FiniMOM, a Bayesian fine-mapping method that improves detection of multiple causal variants using non-local priors and summary data from GWAS.

Genetic effects on the timing of parturition and links to fetal birth weight

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.

Signatures Of TSPAN8 Variants Associated With Human Metabolic Regulation And Diseases

The paper identifies TSPAN8 variants associated with metabolomic regulation and metabolic diseases using CNV analysis and functional characterization in human induced pluripotent stem cells.

A computationally efficient Bayesian Seemingly Unrelated Regressions model for high-dimensional Quantitative Trait Loci discovery

The paper introduces a Bayesian SUR model for high-dimensional QTL analysis, efficiently handling correlated metabolite data and genetic variants.

Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project

The paper outlines the protocol for the EarlyCause project, which investigates the biological mechanisms linking early-life stress to psycho-cardio-metabolic multi-morbidity using longitudinal data, animal models, and cellular systems.

Common maternal and fetal genetic variants show expected polygenic effects on the probability of being born small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies

DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan

This paper identifies DNA methylation sites associated with aggression through a meta-analysis of epigenome-wide studies across different age groups and tissues.

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

Lipoprotein Signatures of Cholesteryl Ester Transfer Protein and HMG-CoA Reductase Inhibition

The paper examines the effects of CETP and HMGCR genetic inhibition on lipoprotein profiles and CHD risk, finding distinct impacts on cholesterol and triglyceride compositions.

The effect of sex and underlying disease on the genetic association of QT interval and sudden cardiac death

The paper examines how sex and underlying disease influence the genetic link between prolonged QT interval and sudden cardiac death risk using logistic regression and Mendelian randomization.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns

This study identifies seven novel genetic loci associated with circulating cytokines and cell adhesion molecules in Finns through GWAS and meta-analysis.

methylSCOPA and META-methylSCOPA: software for the analysis and aggregation of epigenome-wide association studies of multiple correlated phenotypes

The paper introduces methylSCOPA and META-methylSCOPA software for multi-phenotype epigenome-wide association studies, identifying significant methylation sites associated with fasting glucose and insulin levels.

Exome sequencing identifies high impact trait-associated alleles enriched in Finns

Exome sequencing in Finnish populations identifies rare trait-associated alleles with higher frequencies and geographical clustering, revealing 30 novel associations with quantitative traits.

Expanded genetic landscape of chronic obstructive pulmonary disease reveals heterogeneous cell type and phenotype associations

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.

New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

Machine Learning in Multi-Omics Data to Assess Longitudinal Predictors of Glycaemic Health

The paper uses machine learning to predict glycaemic traits from multi-omics data in longitudinal cohorts, identifying key predictors like methylation marks and metabolic variables.

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

This study identifies a fetal genome-wide association signal near pro-inflammatory cytokine genes on 2q13 linked to gestational duration and preterm/postterm birth.

Genome-wide association analysis identifies 27 novel loci associated with uterine leiomyomata revealing common genetic origins with endometriosis