Nature Search

Missense variants in FRS3 affect body mass index in populations of diverse ancestries

Understanding the underlying pathophysiology of obesity can help prevent this condition. Here, the authors perform a GWAS of BMI in diverse ancestries, finding four missense variants in FRS3 that affect BMI.

Andrea B. Jonsdottir
Gardar Sveinbjornsson
Kari Stefansson
ResearchOpen Access25 Mar 2025
Nature Communications

Volume: 16, P: 1-16
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

Here, the authors conduct a GWAS for autoimmune thyroid disease, finding 225 loci including a start codon variant in LAG3 that confers a 3.4-fold risk of autoimmune thyroid disease and reduces expression and plasma levels of LAG−3.

Saedis Saevarsdottir
Kristbjörg Bjarnadottir
Kari Stefansson
ResearchOpen Access09 Jul 2024
Nature Communications

Volume: 15, P: 1-12
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

Genome-wide association analyses identify 93 risk loci for venous thromboembolism (VTE). A polygenic score derived from these results identifies individuals at increased VTE risk equivalent to monogenic forms of the disease.

Jonas Ghouse
Vinicius Tragante
Henning Bundgaard
Research19 Jan 2023
Nature Genetics

Volume: 55, P: 399-409
A sequence variant associating with educational attainment also affects childhood cognition

Bjarni Gunnarsson
Guðrún A. Jónsdóttir
Kári Stefánsson
ResearchOpen Access04 Nov 2016
Scientific Reports

Volume: 6, P: 1-7
Semi-automated assembly of high-quality diploid human reference genomes

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.

Erich D. Jarvis
Giulio Formenti
Karen H. Miga
ResearchOpen Access19 Oct 2022
Nature

Volume: 611, P: 519-531
CNVs conferring risk of autism or schizophrenia affect cognition in controls

Rare copy-number variants (CNVs) conferring risk of schizophrenia or autism affect fecundity of carriers in Iceland, and carriers of these CNVs who do not suffer disease or have not been diagnosed with intellectual disability show phenotypes in brain structure and cognitive abilities between those of non-carrier controls and patients with schizophrenia.

Hreinn Stefansson
Andreas Meyer-Lindenberg
Kari Stefansson
Research18 Dec 2013
Nature

Volume: 505, P: 361-366
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

A genome-wide association study in ~3 million individuals identifies 3,952 independent variants associated with educational attainment. A polygenic index explains 12–16% of variance for this trait and contributes to risk prediction for ten diseases.

Aysu Okbay
Yeda Wu
Alexander I. Young
ResearchOpen Access31 Mar 2022
Nature Genetics

Volume: 54, P: 437-449
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

A genetic study identifies hundreds of loci associated with risk tolerance and risky behaviors, finds evidence of substantial shared genetic influences across these phenotypes, and implicates genes involved in neurotransmission.

Richard Karlsson Linnér
Pietro Biroli
Jonathan P. Beauchamp
Research14 Jan 2019
Nature Genetics

Volume: 51, P: 245-257
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

Rosa Thorolfsdottir et al. report a genome-wide association study of atrial fibrillation in 29,502 cases and 767,760 controls from Iceland and the UK Biobank. They identify a significant association with coding variants in RPL3L, the first ribosomal gene implicated in atrial fibrillation, and MYZAP, an intercalated disc gene.

Rosa B. Thorolfsdottir
Gardar Sveinbjornsson
Kari Stefansson
ResearchOpen Access12 Jun 2018
Communications Biology

Volume: 1, P: 1-9
Genome-wide association study identifies 74 loci associated with educational attainment

A genome-wide association study in 293,723 individuals identifies 74 genetic variants associated with educational attainment, which, although only explaining a small proportion of the variation in educational attainment, highlights candidate genes and pathways for further study.

Aysu Okbay
Jonathan P. Beauchamp
Daniel J. Benjamin
Research11 May 2016
Nature

Volume: 533, P: 539-542
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

Gene discovery and polygenic predictions from a genome-wide association study of educational attainment in 1.1 million individuals.

James J. Lee
Robbee Wedow
David Cesarini
Research23 Jul 2018
Nature Genetics

Volume: 50, P: 1112-1121

Search

Missense variants in FRS3 affect body mass index in populations of diverse ancestries

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

A sequence variant associating with educational attainment also affects childhood cognition

Semi-automated assembly of high-quality diploid human reference genomes

CNVs conferring risk of autism or schizophrenia affect cognition in controls

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

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

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

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