Nature Search

Correction: Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

Unnur Styrkarsdottir
Hannes Helgason
Kari Stefansson
Amendments and Corrections27 Jul 2017
Nature Genetics

Volume: 49, P: 1286
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

Analysis of whole-genome sequence data of Icelandic individuals has revealed a rare nonsense mutation within the LGR4 gene that is strongly associated with, among other things, low bone mineral density, late onset of menarche, and increased risk of biliary tract cancer.

Unnur Styrkarsdottir
Gudmar Thorleifsson
Kari Stefansson
Research05 May 2013
Nature

Volume: 497, P: 517-520
Translational genomics of osteoarthritis in 1,962,069 individuals

A genome-wide association study meta-analysis combined with multiomics data of osteoarthritis identifies 700 effector genes as well as biological processes with a convergent involvement of multiple effector genes; 10% of these genes express the target of approved drugs.

Konstantinos Hatzikotoulas
Lorraine Southam
Eleftheria Zeggini
ResearchOpen Access09 Apr 2025
Nature

Volume: 641, P: 1217-1224
New sequence variants associated with bone mineral density

Unnur Styrkarsdottir and Kari Stefansson and colleagues report the results of an expanded genome-wide association study for bone mineral density at the hip or the spine. New SNP associations were identified downstream of the SOST gene on 17q21, and in intron 1 of the MARK3 gene on 14q32.

Unnur Styrkarsdottir
Bjarni V Halldorsson
Kari Stefansson
Research14 Dec 2008
Nature Genetics

Volume: 41, P: 15-17
Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Unnur Styrkarsdottir
Olafur A. Stefansson
Kari Stefansson
Amendments and CorrectionsOpen Access24 May 2019
Nature Communications

Volume: 10, P: 1-2
Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

Bone mineral density (BMD) is the best predictor of osteoporotic fracture risk. Here, the authors perform a genome wide association study in Icelanders and people of European and East-Asian descent, and identify a new allele in intron 15 of the PTCH1gene that associates with reduced BMD.

Unnur Styrkarsdottir
Gudmar Thorleifsson
Kari Stefansson
ResearchOpen Access06 Jan 2016
Nature Communications

Volume: 7, P: 1-8
Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis

Genome-wide association study for osteoarthritis using data from UK Biobank identifies loci for knee- and hip-specific disease. Functional analyses of chondrocytes provide further insight into candidate causal genes.

Eleni Zengini
Konstantinos Hatzikotoulas
Eleftheria Zeggini
Research20 Mar 2018
Nature Genetics

Volume: 50, P: 549-558
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Fernando Rivadeneira and colleagues in the Genetic Factors for Osteoporosis Consortium report a large-scale meta-analysis identifying new loci associated with bone mineral density (BMD) and risk of fracture. Thirty-two new loci are found to be associated with BMD, and 6 loci confer higher risk for low-trauma bone fracture.

Karol Estrada
Unnur Styrkarsdottir
Fernando Rivadeneira
Research15 Apr 2012
Nature Genetics

Volume: 44, P: 491-501
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Size and shape of bones are important for height and body shape. Here, Styrkarsdottir et al identify 12 loci in a GWAS for bone area derived from DXA scans and show that these loci associate with other bone-related phenotypes including osteoarthritis, height, bone mineral density and risk of hip fracture.

Unnur Styrkarsdottir
Olafur A. Stefansson
Kari Stefansson
ResearchOpen Access03 May 2019
Nature Communications

Volume: 10, P: 1-13
Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

Genome-wide association meta-analysis of data sets from Iceland and the UK identifies 16 new risk loci for osteoarthritis, including missense variants in SMO, IL11, and COL11A1.

Unnur Styrkarsdottir
Sigrun H. Lund
Kari Stefansson
Research29 Oct 2018
Nature Genetics

Volume: 50, P: 1681-1687
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31

Kari Stefansson and colleagues performed a genome-wide association study for severe hand osteoarthritis and found associated variants within the ALDH1A2 gene and at 1p31.

Unnur Styrkarsdottir
Gudmar Thorleifsson
Kari Stefansson
Research13 Apr 2014
Nature Genetics

Volume: 46, P: 498-502
Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Gyda Bjornsdottir
Lilja Stefansdottir
Kari Stefansson
Amendments and CorrectionsOpen Access27 Apr 2022
Nature Communications

Volume: 13, P: 1-3
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Hand grip strength as a proxy of muscular fitness is a clinical predictor of mortality and morbidity. In a large-scale GWA study, the authors find 16 robustly associated genetic loci that highlight roles in muscle fibre structure and function, neuronal maintenance and nervous system signal transduction.

Sara M. Willems
Daniel J. Wright
Robert A. Scott
ResearchOpen Access12 Jul 2017
Nature Communications

Volume: 8, P: 1-12
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

Kari Stefansson, Unnur Styrkarsdottir and colleagues identify rare genotypes in COMP and CHADL associated with high risk of total hip replacement due to osteoarthritis. The high odds ratios associated with these rare risk genotypes suggest that they may represent Mendelian forms of osteoarthritis.

Unnur Styrkarsdottir
Hannes Helgason
Kari Stefansson
Research20 Mar 2017
Nature Genetics

Volume: 49, P: 801-805
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Little is known about the biology of back pain, a leading cause of disability. Here the authors report 30 new back pain loci, implicating genes involved in cartilage/bone biology, as well as neurological and inflammatory processes.

Gyda Bjornsdottir
Lilja Stefansdottir
Kari Stefansson
ResearchOpen Access02 Feb 2022
Nature Communications

Volume: 13, P: 1-13
Toward higher-performance bionic limbs for wider clinical use

This Perspective argues that technologies for the neural interfacing of robotic devices with the body that have been clinically tested in humans should be leveraged toward the creation of a new generation of high-performance bionic limbs.

Dario Farina
Ivan Vujaklija
Oskar C. Aszmann
Reviews31 May 2021
Nature Biomedical Engineering

Volume: 7, P: 473-485

Search

Correction: Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

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

Translational genomics of osteoarthritis in 1,962,069 individuals

New sequence variants associated with bone mineral density

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

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

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis

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

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

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

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

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Toward higher-performance bionic limbs for wider clinical use

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