List of works by Gudmar Thorleifsson

40 EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004 ⬇️

article

A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

scientific article published on 10 June 2011

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

scientific article published on September 2015

A common biological basis of obesity and nicotine addiction

scientific article

A common inversion under selection in Europeans

scientific article (publication date: February 2005)

A common variant associated with prostate cancer in European and African populations

scientific article published on 7 May 2006

A common variant on chromosome 9p21 affects the risk of myocardial infarction

scientific article (publication date: 8 June 2007)

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

scientific journal article

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

scientific article

A genome-wide association study yields five novel thyroid cancer risk loci

scientific article published on 14 February 2017

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

scientific article published on 16 December 2013

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

scientific article published on 25 September 2011

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A rare missense variant in associates with lower cholesterol levels

article published in 2018

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

article by Hannes Helgason et al published 15 September 2013 in Nature Genetics

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease

scientific article published on 7 April 2017

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

scientific article

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

scientific article published on 27 March 2013

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

scientific article

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

scientific article

A sequence variant on 17q21 is associated with age at onset and severity of asthma

scientific article

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

scientific article published on 28 October 2012

A systematic evaluation of 151 candidate genes for their association with osteoporosis and osteoporotic fracture in a meta-analysis of genome-wide association data

article

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes

scientific article (publication date: June 2007)

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

A variant in LDLR is associated with abdominal aortic aneurysm

scientific journal article

A variant in MCF2L is associated with osteoarthritis

scientific article

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction

scientific article published on 10 November 2005

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

scientific article

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

scientific article published on September 2016

Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry

scientific article published on 12 September 2017

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

scientific article

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

scientific article published in August 2012

Assessment of gene-by-sex interaction effect on bone mineral density

scientific article (publication date: October 2012)

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

scientific article

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

scientific article (publication date: November 2010)

Association analyses of 47,500 individuals identifies six fracture loci and 82 BMD loci clustering in biological pathways that regulate osteoblast and osteoclast activity

Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion

scientific article published on 20 January 2015

Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population

scientific article

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases

scientific journal article

Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

scientific article published in Nature Communications

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

article

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD

scientific article

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

scientific article published on 31 May 2016

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

scientific article

Common and low-frequency variants associated with genome-wide recombination rate

scientific article published on 24 November 2013

Common and rare variants associated with kidney stones and biochemical traits

scientific article

Common genetic variants associated with open-angle glaucoma

scientific article published on 22 March 2011

Common sequence variants associated with coronary artery disease correlate with the extent of coronary atherosclerosis.

scientific article published on 16 April 2015

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

scientific article

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

scientific journal article

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

scientific article published on 12 September 2010

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

scientific article

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

scientific article published on 12 October 2008

Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis

scientific article published on 25 July 2016

Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases.

scientific article published on 2 November 2010

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Corrigendum to “A genome-wide association study identifies a common variant near the GPR22 gene as a new locus involved in prevalence and progression of osteoarthritis” [Bone. 44S2 (2009) S224]

article

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on November 2016

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls

scientific article

Detection of sharing by descent, long-range phasing and haplotype imputation

scientific article

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Discovery of common variants associated with low TSH levels and thyroid cancer risk

scientific journal article

Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.

scientific article published on 7 August 2017

Epigenetic and genetic components of height regulation

scientific article

Erratum: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

article

Erratum: Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

scholarly article published in Nature Genetics

Erratum: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: The gene encoding phosphodiesterase 4D confers risk of ischemic stroke

article

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

scientific article

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-scale recombination rate differences between sexes, populations and individuals

scientific article published in October 2010

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

scientific article published on 8 August 2017

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets

scientific article

Genetic determinants of hair, eye and skin pigmentation in Europeans

scientific article

Genetic evidence of assortative mating in humans

article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

scientific article published on 18 November 2009

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

scientific article published on 5 October 2012

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic variation at 16q24.2 is associated with small vessel stroke

scientific article

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

scientific article

Genome-wide analysis yields new loci associating with aortic valve stenosis

scientific article published on 7 March 2018

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

scientific article published on 6 February 2017

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

scientific article published on 06 January 2013

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

scientific article published on 16 October 2011

Genome-wide association study identifies multiple susceptibility loci for multiple myeloma ⬇️

scientific article

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

scientific article

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.

scientific article published on 26 May 2014

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

scientific article

Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk

scientific article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis

scientific article

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

scientific journal article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

scientific article published on 4 January 2016

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

scientific article

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

scientific article

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

scientific article published in Nature Communications

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

scientific article

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

scientific article

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

scientific article

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

scientific article published on 5 January 2016

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

scientific article

Ischemic stroke is associated with the ABO locus: the EuroCLOT study

scientific article published on January 2013

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

scientific article

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions

Linkage of essential hypertension to chromosome 18q.

scientific article

Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2.

scientific article

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

scientific article

Many sequence variants affecting diversity of adult human height

scientific article published in May 2008

Mapping cis- and trans-regulatory effects across multiple tissues in twins

scientific article published on 02 September 2012

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

scientific article

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

scientific article

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

scholarly article by Unnur Styrkarsdottir et al published 29 October 2018 in Nature Genetics

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

scientific article

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

scientific article

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

scientific article

Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?

scientific article published on 23 October 2009

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

scientific article published on 12 March 2018

New basal cell carcinoma susceptibility loci

scientific article

New common variants affecting susceptibility to basal cell carcinoma

scientific article

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

scientific article

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

On the replication of genetic associations: timing can be everything!

scientific article published on April 2008

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Parental origin of sequence variants associated with complex diseases

scientific article published on December 2009

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

scientific article

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity

scientific article

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scientific journal article

Rate of de novo mutations and the importance of father's age to disease risk

scientific article

Recombination rate and reproductive success in humans

scientific article

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

scientific article published on 9 April 2018

Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution

article

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

scientific article

Relatedness disequilibrium regression estimates heritability without environmental bias

article

Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.

scientific article published in October 2008

Selection against variants in the genome associated with educational attainment

scientific article published on 17 January 2017

Sequence variant at 4q25 near PITX2 associates with appendicitis

scientific article

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

scientific article published on 22 February 2017

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

scientific article

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

scientific article

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

scientific article

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

scientific article

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

scientific journal article

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

scientific article published on 6 January 2016

Sequence variants in the RNF212 gene associate with genome-wide recombination rate

scientific article

Seven new loci associated with age-related macular degeneration

scientific article

Several common variants modulate heart rate, PR interval and QRS duration

article by Hilma Holm et al published 10 January 2010 in Nature Genetics

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

scientific article published on 13 April 2014

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals

scientific article

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

scientific article

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

scientific article published on 18 April 2009

The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts

scientific article

The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke

article

The gene encoding phosphodiesterase 4D confers risk of ischemic stroke

scientific article published on 21 September 2003

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

The impact of low-frequency and rare variants on lipid levels

scientific article published on 11 May 2015

The inheritance of rheumatoid arthritis in Iceland

scientific article published on October 2001

The rate of meiotic gene conversion varies by sex and age.

scientific article published on 19 September 2016

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

scientific article (publication date: 2013)

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

scientific article

Twenty loci associated with bone mineral density identified by large-scale meta-analysis of genome-wide association datasets

Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland

scientific article published on August 2015

Two newly identified genetic determinants of pigmentation in Europeans

scientific article

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

article

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

scientific article

Variants conferring risk of atrial fibrillation on chromosome 4q25.

scientific article

Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

scientific article published on 19 June 2017

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

scientific article

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

scientific article

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