Johannes Kettunen

PKHD1L1 affects fertility in women

The paper investigates the effect of the PKHD1L1 splice donor variant rs17368310 on female fertility, showing reduced child count in homozygous carriers across Finnish and Mexican populations.

Discovering age- and sex-specific genetic risk factors in sensorineural hearing loss: genome-wide evidence from large-scale biobank studies

This study identifies 32 new SNHL risk loci through genome-wide meta-analyses of 531,059 individuals, including age- and sex-specific differences.

Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus

The paper integrates GWAS meta-analysis with human brain cell mapping to identify genetic loci and cell types involved in tinnitus, implicating the amygdala and midbrain.

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

Multi-omic triangulation identifies molecular candidates of atopic dermatitis severity

This study identifies 440 genes/proteins associated with atopic dermatitis severity through multi-omics analyses and highlights four with significant cross-evidence, including CEP85, which may contribute to severity via impaired phagocytosis.

Genome-wide Cross-multi-trait Analysis into Shared Genetic Architecture of Coronary Artery Disease and Aortic Aneurysms

This study identifies 59 novel genome-wide significant loci shared between coronary artery disease and aortic aneurysms through joint meta-analysis and functional characterization.

Exploring genetic risk factors for pneumonia using biobank resources - Insights across subpopulations

This study identifies 13 genetic loci associated with pneumonia risk using GWAS across multiple subpopulations, highlighting immunological and lifestyle factors.

Genetic study of psoriasis highlights its close link with socio-economic status and affective symptoms

This study identifies 8 novel genetic risk loci for psoriasis and finds genetic correlations with socio-economic status and affective symptoms.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

OTTERS: A powerful TWAS framework leveraging summary-level reference data

OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.

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.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

Leveraging Northern European population history; novel low frequency variants for polycystic ovary syndrome

This study identifies three novel low-frequency variants associated with PCOS using a Finnish-Estonian GWAS, highlighting the value of population-specific genetic analysis.

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

Evidence of a causal relationship between genetic tendency to gain muscle mass and uterine leiomyomata

This study identifies 36 novel genetic loci associated with uterine leiomyomata and suggests a causal link between genetic predisposition to increased fat-free mass and UL risk.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

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.

Multivariate genome-wide association analysis of a cytokine network reveals variants with widespread immune, haematological and cardiometabolic pleiotropy

This study identifies genetic variants with pleiotropic effects on cytokines and related traits using a multivariate genome-wide association analysis.

Elevated alpha-1 antitrypsin is a major component of GlycA-associated risk for future morbidity and mortality

The paper identifies alpha-1 antitrypsin as a key contributor to GlycA's predictive power for disease risk and mortality across multiple conditions.

Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

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.

Novel susceptibility loci and genetic regulation mechanisms for type 2 diabetes

This study identifies 139 common and 4 rare genetic variants associated with type 2 diabetes through GWAS and integrates gene expression and epigenomic data to highlight potential functional genes and regulatory mechanisms.

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

The paper identifies gene targets for brain-related traits using transcriptomic and methylomic data from blood, finding strong correlations between genetic effects in brain and blood tissues.

An interaction map of circulating metabolites, immune gene networks and their genetic regulation

The paper integrates transcriptomic, metabolomic, and genomic data to identify gene networks and their genetic regulation linked to immune function and circulating metabolites.

Genome-wide association study identifies 17 new loci influencing concentrations of circulating cytokines and growth factors

This study identifies 17 new genetic loci associated with circulating cytokine and growth factor concentrations in Finns, linking them to immune-related diseases and potential drug targets.

Mergeomics: integration of diverse genomics resources to identify pathogenic perturbations to biological systems

Mergeomics integrates diverse genomics resources to identify pathogenic perturbations by analyzing disease-associated pathways and gene networks, revealing novel cholesterol regulators.

Systems medicine links microbial inflammatory response with glycoprotein-associated mortality risk

This study links elevated glycoprotein acetyls (GlycA) to chronic inflammation and microbial infection risk using integrative omics and health records.

Cell specific eQTL analysis without sorting cells

The paper introduces a method for cell-specific eQTL analysis without cell sorting, showing that Crohn's disease-associated SNPs mainly affect neutrophil gene expression in whole blood data.