Ida L. Surakka

Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations

The paper identifies 800 exome-wide significant rare coding variants associated with blood lipids in over a million diverse individuals, including 130 driven by non-European-like populations.

A sensitized model of thrombosis validates known multigenic relationships and suggests novel modifiers of hemostasis

This paper uses a zebrafish model to identify genetic modifiers of thrombosis, finding a novel mutation in prothrombin and additional modifiers like factor X and plasminogen.

Genome-wide association meta-analyses over one million individuals identify 54 loci associated with urinary incontinence and its subtypes

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

This study identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

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.

Complexities of cerebral small vessel disease, blood pressure, and dementia relationship: new insights from genetics

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

Multi-ancestry GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish

This study conducts a multi-ancestry GWAS for venous thromboembolism, identifies novel loci, and validates their function in zebrafish.

Multi-ancestry GWAS deciphers genetic architecture of abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

Multi-ancestry meta-analysis identifies 2 novel loci associated with ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

This paper identifies two novel genetic loci associated with ischemic stroke and finds sex and ancestry differences in their effects.

Communicating polygenic and non-genetic risk for atherosclerotic cardiovascular disease - An observational follow-up study

This study evaluates the impact of communicating polygenic and clinical risk scores for ASCVD via a web tool, finding that high-risk individuals made more health behavior changes.

Utility of family history in disease prediction in the era of polygenic scores

The paper evaluates family history and polygenic scores as predictors for coronary artery disease and type 2 diabetes using the Trondelag Health Study and UK Biobank.

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

High-resolution population-specific recombination rates and their effect on phasing and genotype imputation

The paper maps high-resolution recombination rates in Finns and compares their impact on phasing and imputation to non-Finnish Europeans, finding minimal effect on accuracy.

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.

Geographic variation and bias in polygenic scores of complex diseases and traits in Finland

This study examines geographic variation and bias in polygenic scores for complex traits in Finland, finding that population genetic structure may cause apparent geographic patterns rather than direct genotype-phenotype associations.

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Exomes of 49,960 UK Biobank participants reveal 231,631 predicted loss-of-function variants (>10-fold more than imputed data); burden tests implicate PIEZO1, MEPE, and COL6A1 in disease 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.

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

Common variant burden contributes significantly to the familial aggregation of migraine in 1,589 families

This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

This study assesses the association between polygenic risk scores for LDL-C and TG with CAD risk, finding a proportional relationship with lipid levels and partial independence from a CAD PRS.