Andres Metspalu

Revisiting genetic associations with educational outcomes during and after the Soviet era in Estonia

The paper examines genetic contributions to educational attainment and occupational status in Estonia during and after the Soviet era using the Estonian Biobank, finding increased genetic influence in education but not occupation.

Pharmacogenomic architecture of antihypertensive switching implicates neurotensin-NTSR1 signaling in ACE inhibitor-induced cough

This study identifies genetic loci associated with antihypertensive medication switching, implicating neurotensin-NTSR1 signaling in ACE inhibitor-induced cough and CYP3A4*22 in dCCB intolerance.

Genome-wide association study for circulating metabolic traits in 619,372 individuals

This study performs a large-scale GWAS on 249 metabolic traits in 619,372 individuals, identifying 88,604 associations and using MR to explore causal links between metabolites and diseases.

GWAS of amiodarone-induced thyroid dysfunction: Applications for genotype-guided risk stratification

This paper identifies genetic variants associated with amiodarone-induced thyroid dysfunction and shows they improve risk prediction beyond general thyroid disease PRS.

Genetic effects on migration behaviour contribute to increasing spatial differentiation at trait-associated loci in Estonia

The paper shows that migration behavior in Estonia increases spatial genetic differentiation at trait-associated loci, with educational attainment PGS driving inter-regional differences.

Parent-of-Origin inference and its role in the genetic architecture of complex traits: evidence from ~265,000 individuals

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

Genome-wide Association Study Identifies SORCS3 as a Novel Susceptibility Locus for Panic Disorder in the FinnGen Study

This paper identifies SORCS3 as a novel genetic locus associated with panic disorder through a genome-wide association study in the FinnGen study and validates it in independent samples.

Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

Family-GWAS reveals effects of environment and mating on genetic associations

Family-based GWAS meta-analysis of 34 phenotypes shows standard GWAS effects carry sizeable confounding uncorrelated with direct genetic effects, while assortative mating likely inflates SNP heritability and genetic correlations.

From Biobanking to Personalized Medicine: the journey of the Estonian Biobank

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

Uncovering the Shared Genetic Components of Thyroid Disorders and Reproductive Health

This study identifies shared genetic components between thyroid disorders and reproductive health using GWAS and genetic correlation analysis in 743,088 individuals.

The genetic architecture of changes in adiposity during adulthood

This study identifies six novel genetic loci associated with BMI change over adulthood using UK Biobank health records, finding lower heritability for BMI change compared to baseline BMI.

Genetic determinants of plasma protein levels in the Estonian population

This study identifies genetic determinants of plasma protein levels in the Estonian population, including common, rare, and copy number variants, and provides fine-mapped credible sets for 151 proteins.

Mapping pQTLs of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and novel therapeutic targets

The paper identifies pQTLs for 91 plasma proteins, finds novel associations, and uses MR to uncover causal roles in immune-mediated diseases, suggesting new therapeutic targets.

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank

This study uses whole-exome sequencing to directly call HLA alleles in the UK Biobank, identifying 129 novel associations between HLA alleles and 11 autoimmune diseases.

Long-range regulatory effects of Neandertal DNA in modern humans

This study identifies Neandertal DNA's long-range regulatory effects on gene expression in modern humans, showing their influence on immune traits, schizophrenia, and other phenotypes.

A cross-disorder dosage sensitivity map of the human genome

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

Advancing our understanding of genetic risk factors and potential personalized strategies in pelvic organ prolapse: largest GWAS to date reveals 19 novel associated loci

This paper identifies 19 novel genetic loci associated with pelvic organ prolapse through the largest GWAS to date and presents a polygenic risk score with predictive value for POP risk.

The individual and global impact of copy number variants on complex human traits

This study identifies 131 CNV signals associated with 47 complex traits in the UK Biobank, revealing new gene functions and linking CNVs to decreased longevity and health outcomes.

Mendelian randomization identifies the potential causal impact of dietary patterns on circulating blood metabolites

This study uses Mendelian randomization to identify 417 potential causal links between dietary patterns and blood metabolites, including novel associations and replication of known ones.

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

This paper introduces revTWMR, a method to determine causal relationships between gene expression and complex traits, finding that traits more strongly influence gene expression than vice versa.

Genomic and phenomic insights from an atlas of genetic effects on DNA methylation

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

Genome-wide association study identifies five risk loci for pernicious anemia and implicates the role of HLA-DR15 haplotype

This study identifies five genetic risk loci for pernicious anemia through a genome-wide association analysis and links the disease to the HLA-DR15 haplotype.

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

The paper identifies novel genetic loci associated with blood pressure that interact with sleep duration across multiple ancestries.

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

The paper estimates carrier rates and risk of severe autosomal recessive disorders in European populations using exome sequences.

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants

The paper evaluates a genotype-first approach for identifying BRCA1/2 variant carriers in a biobank cohort and assesses the impact of risk disclosure.

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

This study identifies 15 new risk loci for otosclerosis and replicates known associations, highlighting shared genetic links with skeletal structure and bone-related disorders.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.