Nature Search

Epigenetic and genetic components of height regulation

Adult height has a strong genetic component and is highly heritable. Here the authors whole-genome sequence 8,453 Icelanders and find novel parent-of-origin derived associations in IGF2-H19 and DLK1-MEG3.

Stefania Benonisdottir
Asmundur Oddsson
Kari Stefansson
ResearchOpen Access16 Nov 2016
Nature Communications

Volume: 7, P: 1-10
Author Correction: Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring

Stefania Benonisdottir
Vincent J. Straub
Melinda C. Mills
Amendments and Corrections02 Jan 2025
Nature Aging

Volume: 5, P: 332
Genetic insights into biological mechanisms governing human ovarian ageing

Hundreds of genetic loci associated with age at menopause, combined with experimental evidence in mice, highlight mechanisms of reproductive ageing across the lifespan.

Katherine S. Ruth
Felix R. Day
John R. B. Perry
Research04 Aug 2021
Nature

Volume: 596, P: 393-397
Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring

Benonisdottir et al. review the genetics of reproductive traits and examine how these associate with links to health, behavior, aging and longevity as well as outcomes for offspring.

Stefania Benonisdottir
Vincent J. Straub
Melinda C. Mills
Reviews13 Dec 2024
Nature Aging

Volume: 4, P: 1745-1759
Realizing the full potential of Our Future Health through data linkage and trans-biobank efforts

The scale and population coverage of Our Future Health, alongside other next-generation biobanks, offers unique opportunities to advance genomic medicine. Focusing on the UK context, we provide a researcher’s perspective of how this new resource could reach its full potential in a way that is impactful, user-friendly and informs related global efforts.

Vincent J. Straub
Stefania Benonisdottir
Melinda C. Mills
Comments & Opinion15 Sept 2025
Nature Genetics

Volume: 57, P: 2341-2348
Studying the genetics of participation using footprints left on the ascertained genotypes

A new methodology to study participation genetics via analyzing shared and unshared genotypes is applied to the UK Biobank, suggesting that participating in genetic studies is a complex trait with a meaningful genetic component.

Stefania Benonisdottir
Augustine Kong
ResearchOpen Access13 Jul 2023
Nature Genetics

Volume: 55, P: 1413-1420
Sequence variant at 4q25 near PITX2 associates with appendicitis

Ragnar P. Kristjansson
Stefania Benonisdottir
Kari Stefansson
ResearchOpen Access08 Jun 2017
Scientific Reports

Volume: 7, P: 1-7
Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

Asthma is a common allergic airway disease with significant inter-individual heterogeneity. Here, Olafsdottir et al. report a genome-wide meta-analysis of two large population-based cohorts to identify sequence variants that associate with asthma risk and perform follow-up functional analyses on a protective loss-of-function variant in TNFRSF8.

Thorunn A. Olafsdottir
Fannar Theodors
Kari Stefansson
ResearchOpen Access20 Jan 2020
Nature Communications

Volume: 11, P: 1-11
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk of a mild sensory-negative PN.

Gyda Bjornsdottir
Erna V. Ivarsdottir
Kari Stefansson
ResearchOpen Access16 Apr 2019
Nature Communications

Volume: 10, P: 1-10
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Creatine kinase (CK) and lactate dehydrogenase (LDH) are biomarkers of tissue damages including myopathy and myocardial infarction. Here, Patrick Sulem and colleagues perform a genome-wide association study to identify common and rare genetic variants that associates with serum CK or LDH levels.

Ragnar P. Kristjansson
Asmundur Oddsson
Kari Stefansson
ResearchOpen Access03 Feb 2016
Nature Communications

Volume: 7, P: 1-8
Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

Lumbar disc herniation (LDH) can cause persistent sciatica, and in some cases surgery is required to relieve symptoms. Here, the authors carry out a genome-wide association study using microdiscectomy as an indicator of severe LDH, and find a locus on chromosome 8 associated with this condition.

Gyda Bjornsdottir
Stefania Benonisdottir
Kari Stefansson
ResearchOpen Access22 Feb 2017
Nature Communications

Volume: 8, P: 1-8
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 variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

The corneal endothelium is crucial for proper vision. Here, Ivarsdottir et al. perform genome-wide association studies for various corneal endothelial cell measurements and find that an intergenic variant near ANAPC1 explains 24% of the variance of endothelial cell density and associates with corneal hysteresis.

Erna V. Ivarsdottir
Stefania Benonisdottir
Kari Stefansson
ResearchOpen Access20 Mar 2019
Nature Communications

Volume: 10, P: 1-10
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

Genome-wide-association analyses of datasets from Iceland and the UK identify risk variants for nasal polyps and chronic rhinosinusitis. Notably, a loss-of-function missense variant in ALOX15 confers protection against both phenotypes, thus identifying a potential target for therapeutic intervention.

Ragnar P. Kristjansson
Stefania Benonisdottir
Kari Stefansson
Research14 Jan 2019
Nature Genetics

Volume: 51, P: 267-276
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

Genome-wide association studies have so far identified eight risk loci for gallstone disease. Here, the authors perform meta-analysis in cohorts from Iceland and the UK which reveals further 21 common and low-frequency risk variants that highlight the role of bile acid homeostasis in gallstone disease.

Egil Ferkingstad
Asmundur Oddsson
Kari Stefansson
ResearchOpen Access30 Nov 2018
Nature Communications

Volume: 9, P: 1-11
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Mutations in genes encoding NAPDH oxidase subunits are known to be causative for the primary immunodeficiency chronic granulomatous disease (CGD). Here, the authors identify CYBC1 mutations in patients with CGD and show that CYBC1 is important for formation of the NADPH complex and respiratory burst.

Gudny A. Arnadottir
Gudmundur L. Norddahl
Kari Stefansson
ResearchOpen Access25 Oct 2018
Nature Communications

Volume: 9, P: 1-9
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
Mendelian imputation of parental genotypes improves estimates of direct genetic effects

snipar is a software package for imputing missing parental genotypes and estimating direct genetic effects. Application to UK Biobank data shows that effects estimated by standard genome-wide association study designs have confounding bias for some phenotypes.

Alexander I. Young
Seyed Moeen Nehzati
Augustine Kong
ResearchOpen Access09 Jun 2022
Nature Genetics

Volume: 54, P: 897-905
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

Erna Ivarsdottir et al. report a genome-wide association meta-analysis for age-related hearing loss in the Icelandic and UK populations. They identify 21 novel variants, 13 of which are rare, and reveal a genetic correlation between age-related hearing loss and tinnitus.

Erna V. Ivarsdottir
Hilma Holm
Kari Stefansson
ResearchOpen Access09 Jun 2021
Communications Biology

Volume: 4, P: 1-13
A rare missense variant in NR1H4 associates with lower cholesterol levels

Aimee Deaton et al. identify a rare missense variant in the bile acid receptor gene NR1H4, which is associated with lower levels of total cholesterol in the Icelandic population. Hepatocytes expressing the missense variant showed altered expression of a small number of genes, with enrichment in lipid-related pathways.

Aimee M. Deaton
Patrick Sulem
Kari Stefansson
ResearchOpen Access08 Feb 2018
Communications Biology

Volume: 1, P: 1-9
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Gudjon Oskarsson et al. report the association of a rare variant in the erythropoietin (EPO) receptor gene, EPOR, with serum EPO levels in the Icelandic population. The variant leads to a truncation of EPO-R without an effect on hemoglobin levels, indicating a possible feedback mechanism in the generation of red blood cells.

Gudjon R. Oskarsson
Ragnar P. Kristjansson
Kari Stefansson
ResearchOpen Access17 May 2018
Communications Biology

Volume: 1, P: 1-7
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Gudjon Oskarsson et al. report a genome-wide association study of hemoglobin concentration in more than 680,000 individuals from Iceland and the UK. They identify six novel rare coding variants at the ACO1 locus that associate with either increased or decreased hemoglobin concentration, two of which have large and opposite effects.

Gudjon R. Oskarsson
Asmundur Oddsson
Kari Stefansson
ResearchOpen Access23 Apr 2020
Communications Biology

Volume: 3, P: 1-10

Search

Epigenetic and genetic components of height regulation

Author Correction: Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring

Genetic insights into biological mechanisms governing human ovarian ageing

Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring

Realizing the full potential of Our Future Health through data linkage and trans-biobank efforts

Studying the genetics of participation using footprints left on the ascertained genotypes

Sequence variant at 4q25 near PITX2 associates with appendicitis

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

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

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

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

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

Mendelian imputation of parental genotypes improves estimates of direct genetic effects

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

A rare missense variant in NR1H4 associates with lower cholesterol levels

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

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