Guðmar Þorleifsson

This study identifies 26 risk loci for fibromyalgia through a genome-wide association analysis of 2.5 million individuals, revealing genetic links to neural functions and chronic pain disorders.

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.

The paper uses population-scale Ig genetics to identify genetic associations and map their effects on the human B-cell system, revealing new genes and regulatory mechanisms in humoral immunity.

BloodVariome identifies 259 genetic associations across 127 immune cell populations in 11,983 individuals, revealing fine-grained genetic compartmentalization of the immune system.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.

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.

The paper identifies rare genetic variants associated with birth weight, highlighting genes involved in adipose tissue regulation, placental function, and insulin-like growth factor signaling.

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.

The paper identifies five genetic loci associated with postpartum hemorrhage through a meta-analysis and links them to progesterone receptor binding sites and related traits.

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

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.

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

The paper analyzes whole genome sequences of 150,119 UK Biobank individuals, identifying variants and associations with traits, and provides a haplotype reference panel for imputation.

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.

The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.

This study identifies eight novel genetic signals associated with asthma-COPD overlap through a genome-wide association analysis involving multiple cohorts.

This study uses multivariable Mendelian randomization to show that higher bone mineral density causally increases osteoarthritis risk independently of body mass index.

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

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.

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

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

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

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.

This study identifies 13 novel genetic loci associated with endometriosis through a large GWAS meta-analysis and finds genetic links to other pain-related conditions.

This study introduces RDR, a method to estimate heritability while removing environmental bias, and applies it to 54,888 Icelanders to estimate heritability for 14 traits.

This study identifies two new genetic loci associated with aortic valve stenosis through a large genome-wide association study.

The paper shows that non-transmitted parental alleles affect a child's traits through their impact on parents and relatives, termed genetic nurture, with significant effects on educational attainment and other traits.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.