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Article ; Online: Increased absorption of phytosterols is the simplest and most plausible explanation for coronary artery disease risk not accounted for by non-HDL cholesterol in high cholesterol absorbers.

Helgadottir, Anna / Thorleifsson, Gudmar / Stefansson, Kari

2020 Volume 42, Issue 3, Page(s) 283–284

MeSH term(s)	Cholesterol ; Coronary Artery Disease ; Humans ; Hypercholesterolemia ; Lipoproteins ; Phytosterols
Chemical Substances	Lipoproteins ; Phytosterols ; Cholesterol (97C5T2UQ7J)
Language	English
Publishing date	2020-11-07
Publishing country	England
Document type	Journal Article ; Comment
ZDB-ID	603098-1
ISSN	1522-9645 ; 0195-668X
ISSN (online)	1522-9645
ISSN	0195-668X
DOI	10.1093/eurheartj/ehaa902
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Article ; Online: Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource.

Styrkarsdottir, Unnur / Lund, Sigrun H / Thorleifsson, Gudmar / Saevarsdottir, Saedis / Gudbjartsson, Daniel F / Thorsteinsdottir, Unnur / Stefansson, Kari

Arthritis & rheumatology (Hoboken, N.J.)

2022 Volume 75, Issue 4, Page(s) 544–552

Abstract: Objective: The level of cartilage acidic protein 1 (CRTAC1) in plasma was recently discovered to be associated with osteoarthritis (OA) risk and progression to joint replacement in Iceland. This study was undertaken to validate these findings in an ... ...

Abstract	Objective: The level of cartilage acidic protein 1 (CRTAC1) in plasma was recently discovered to be associated with osteoarthritis (OA) risk and progression to joint replacement in Iceland. This study was undertaken to validate these findings in an independent population. Methods: In this study, 1,462 plasma proteins were measured in 54,265 participants from the UK Biobank on the Olink Explore platform. We analyzed the association of plasma proteins with prevalent OA, incident OA, and progression to joint replacement. We assessed the specificity of OA association through comparison of associations with inflammatory joint diseases and with previous joint replacement. Results: The CRTAC1 protein showed the strongest association with prevalent knee OA (odds ratio [OR] 1.34 [95% confidence interval (95% CI) 1.27, 1.41]) and was associated with hip OA (OR 1.19 [95% CI 1.11, 1.28]). It predicted incident diagnosis of OA in the knee (hazard ratio [HR] 1.40 [95% CI 1.35, 1.46]) and hip (HR 1.25 [95% CI 1.19, 1.31]), as well as progression to joint replacement (HR 1.20 [95% CI 1.08, 1.33] for the knee and HR 1.22 [95% CI 1.08, 1.38] for the hip), while no association was found with inflammatory joint diseases. Individuals in the highest quintile of risk based on CRTAC1 level, age, sex, and body mass index had a 10-fold risk of knee or hip OA within 5 years compared to those in the lowest quintile. Adding aggrecan core protein (ACAN) and neurocan core protein (NCAN) to the model improved the prediction of OA but not joint replacement. Furthermore, we replicated the association of CUB domain-containing protein 1 with prior joint replacement. Conclusion: Plasma CRTAC1 is a specific biomarker for OA and a predictor of OA risk and progression to joint replacement. Adding ACAN and NCAN protein levels to the CRTAC1 model improved the prediction of OA.
MeSH term(s)	Humans ; Arthroplasty, Replacement ; Calcium-Binding Proteins ; Cartilage ; Osteoarthritis, Hip/epidemiology ; Osteoarthritis, Hip/surgery ; Osteoarthritis, Knee/epidemiology ; Osteoarthritis, Knee/surgery ; United Kingdom/epidemiology
Chemical Substances	Calcium-Binding Proteins ; CRTAC1 protein, human
Language	English
Publishing date	2022-12-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2756371-6
ISSN	2326-5205 ; 2326-5191
ISSN (online)	2326-5205
ISSN	2326-5191
DOI	10.1002/art.42376
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Article ; Online: Mendelian Randomization Study of ACLY and Cardiovascular Disease.

Hólm, Hilma / Sulem, Patrick / Helgadóttir, Anna / Tragante, Vinicius / Þorleifsson, Guðmar / Guðbjartsson, Daníel / Stefánsson, Kári

The New England journal of medicine

2020 Volume 383, Issue 7, Page(s) e50

MeSH term(s)	Cardiovascular Diseases ; Genetic Predisposition to Disease ; Humans ; Mendelian Randomization Analysis
Language	English
Publishing date	2020-08-06
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMc1908496
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Article: Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.

medRxiv : the preprint server for health sciences

2024

Abstract: Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. Genome-wide association studies of birth weight have highlighted associated variants in more than 200 regions of the ... ...

Abstract	Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. Genome-wide association studies of birth weight have highlighted associated variants in more than 200 regions of the genome, but the causal genes are mostly unknown. Rare genetic variants with robust evidence of association are more likely to point to causal genes, but to date, only a few rare variants are known to influence birth weight. We aimed to identify genes that harbour rare variants that impact birth weight when carried by either the fetus or the mother, by analysing whole exome sequence data in UK Biobank participants. We annotated rare (minor allele frequency <0.1%) protein-truncating or high impact missense variants on whole exome sequence data in up to 234,675 participants with data on their own birth weight (fetal variants), and up to 181,883 mothers who reported the birth weight of their first child (maternal variants). Variants within each gene were collapsed to perform gene burden tests and for each associated gene, we compared the observed fetal and maternal effects. We identified 8 genes with evidence of rare fetal variant effects on birth weight, of which 2 also showed maternal effects. One additional gene showed evidence of maternal effects only. We observed 10/11 directionally concordant associations in an independent sample of up to 45,622 individuals (sign test
Language	English
Publishing date	2024-04-03
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.04.03.24305248
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Article ; Online: Obesity variants in the GIPR gene do not associate with risk of fracture or bone mineral density.

The Journal of clinical endocrinology and metabolism

2023

Abstract: Objective: The objective of this study was to investigate the risk of fracture and bone mineral density (BMD) of sequence variants in GIPR that reduce the activity of the GIPR receptor and have been associated with reduced body mass index (BMI).: ... ...

Abstract	Objective: The objective of this study was to investigate the risk of fracture and bone mineral density (BMD) of sequence variants in GIPR that reduce the activity of the GIPR receptor and have been associated with reduced body mass index (BMI). Methods: We analysed the association of three missense variants in GIPR, a common variant, rs1800437 (p.Glu354Gln), and two rare variants, rs139215588 (p.Arg190Gln) and rs143430880 (p.Glu288Gly), as well as a burden of predicted loss of function (LoF) variants with risk of fracture and with BMD in a large meta-analysis of up to 1.2 million participants. We analysed associations with fractures at different skeletal sites in the general population; any fractures, hip fractures, vertebral fractures and forearm fractures, and specifically non-vertebral and osteoporotic fractures in postmenopausal women. We also evaluated associations with BMD at the lumbar spine, femoral neck, and total body measured with dual-energy X-ray absorptiometry (DXA), and with BMD estimated from heel ultrasound (eBMD). Results: None of the three missense variants in GIPR associated significantly with increased risk of fractures or with lower BMD. Burden of LoF variants in GIPR were not associated with fractures or with BMD measured with clinically validated DXA, but associated with eBMD. Conclusion: Missense variants in GIPR, or burden of LoF variants in the gene, do not associate with risk of fractures or with lower BMD.
Language	English
Publishing date	2023-12-20
Publishing country	United States
Document type	Journal Article
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgad734
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Uh III Zs.134: Show issues

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Article ; Online: Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect.

Styrkarsdottir, Unnur / Stefansdottir, Lilja / Thorleifsson, Gudmar / Stefansson, Olafur A / Saevarsdottir, Saedis / Lund, Sigrun H / Rafnar, Thorunn / Hoshijima, Kazuyuki / Novak, Kendra / Oreiro, Natividad / Rego-Perez, Ignacio / Hansen, Channing / Kazmers, Nikolas / Kiemeney, Lambertus A / Blanco, Francisco J / Barker, Tyler / Kloppenburg, Margreet / Jurynec, Michael J / Gudbjartsson, Daniel F /

Jonsson, Helgi / Thorsteinsdottir, Unnur / Stefansson, Kari

Annals of the rheumatic diseases

2023 Volume 82, Issue 6, Page(s) 873–880

Abstract: Objectives: Erosive hand osteoarthritis (EHOA) is a severe subset of hand osteoarthritis (OA). It is unclear if EHOA is genetically different from other forms of OA. Sequence variants at ten loci have been associated with hand OA but none with EHOA.: ... ...

Abstract	Objectives: Erosive hand osteoarthritis (EHOA) is a severe subset of hand osteoarthritis (OA). It is unclear if EHOA is genetically different from other forms of OA. Sequence variants at ten loci have been associated with hand OA but none with EHOA. Methods: We performed meta-analysis of EHOA in 1484 cases and 550 680 controls, from 5 populations. To identify causal genes, we performed eQTL and plasma pQTL analyses, and developed one zebrafish mutant. We analysed associations of variants with other traits and estimated shared genetics between EHOA and other traits. Results: Four common sequence variants associated with EHOA, all with relatively high effect. Rs17013495 ( Conclusions: We report on significant genetic associations with EHOA. The results support the view of EHOA as a form of severe hand OA and partly separate it from OA in larger joints.
MeSH term(s)	Animals ; Hand Joints/diagnostic imaging ; Zebrafish/genetics ; Hand ; Osteoarthritis/complications ; Arthritis, Rheumatoid/complications
Language	English
Publishing date	2023-03-17
Publishing country	England
Document type	Meta-Analysis ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	7090-7
ISSN	1468-2060 ; 0003-4967
ISSN (online)	1468-2060
ISSN	0003-4967
DOI	10.1136/ard-2022-223468
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Uh III Zs.114: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 167: Show issues

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Article ; Online: Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.

Steinthorsdottir, Valgerdur / Halldorsson, Bjarni V / Jonsson, Hakon / Palsson, Gunnar / Oddsson, Asmundur / Westergaard, David / Arnadottir, Gudny A / Stefansdottir, Lilja / Banasik, Karina / Esplin, M Sean / Hansen, Thomas Folkmann / Brunak, Søren / Nyegaard, Mette / Ostrowski, Sisse Rye / Pedersen, Ole Birger Vesterager / Erikstrup, Christian / Thorleifsson, Gudmar / Nadauld, Lincoln D / Haraldsson, Asgeir /

Steingrimsdottir, Thora / Tryggvadottir, Laufey / Jonsdottir, Ingileif / Gudbjartsson, Daniel F / Hoffmann, Eva R / Sulem, Patrick / Holm, Hilma / Nielsen, Henriette Svarre / Stefansson, Kari

Nature structural & molecular biology

2024 Volume 31, Issue 4, Page(s) 710–716

Abstract: Two-thirds of all human conceptions are lost, in most cases before clinical detection. The lack of detailed understanding of the causes of pregnancy losses constrains focused counseling for future pregnancies. We have previously shown that a missense ... ...

Abstract	Two-thirds of all human conceptions are lost, in most cases before clinical detection. The lack of detailed understanding of the causes of pregnancy losses constrains focused counseling for future pregnancies. We have previously shown that a missense variant in synaptonemal complex central element protein 2 (SYCE2), in a key residue for the assembly of the synaptonemal complex backbone, associates with recombination traits. Here we show that it also increases risk of pregnancy loss in a genome-wide association analysis on 114,761 women with reported pregnancy loss. We further show that the variant associates with more random placement of crossovers and lower recombination rate in longer chromosomes but higher in the shorter ones. These results support the hypothesis that some pregnancy losses are due to failures in recombination. They further demonstrate that variants with a substantial effect on the quality of recombination can be maintained in the population.
MeSH term(s)	Humans ; Female ; Pregnancy ; Synaptonemal Complex/metabolism ; Nuclear Proteins/metabolism ; Genome-Wide Association Study ; Chromosomal Proteins, Non-Histone/metabolism ; Recombination, Genetic ; Meiosis
Chemical Substances	Nuclear Proteins ; Chromosomal Proteins, Non-Histone
Language	English
Publishing date	2024-01-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	2126708-X
ISSN	1545-9985 ; 1545-9993
ISSN (online)	1545-9985
ISSN	1545-9993
DOI	10.1038/s41594-023-01209-y
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Zs.A 4101: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Genome-wide association meta-analysis of knee and hip osteoarthritis uncovers genetic differences between patients treated with joint replacement and patients without joint replacement.

Henkel, Cecilie / Styrkársdóttir, Unnur / Thorleifsson, Gudmar / Stefánsdóttir, Lilja / Björnsdóttir, Gyda / Banasik, Karina / Brunak, Søren / Erikstrup, Christian / Dinh, Khoa Manh / Hansen, Thomas Folkmann / Nielsen, Kaspar René / Bruun, Mie Topholm / Dowsett, Joseph / Brodersen, Thorsten / Thorgeirsson, Thorgeir E / Gromov, Kirill / Boesen, Mikael Ploug / Ullum, Henrik / Ostrowski, Sisse Rye /

Pedersen, Ole Birger / Stefánsson, Kári / Troelsen, Anders

Annals of the rheumatic diseases

2022 Volume 82, Issue 3, Page(s) 384–392

Abstract: Objectives: Osteoarthritis is a common and severe, multifactorial disease with a well-established genetic component. However, little is known about how genetics affect disease progression, and thereby the need for joint placement. Therefore, we aimed to ...

Abstract	Objectives: Osteoarthritis is a common and severe, multifactorial disease with a well-established genetic component. However, little is known about how genetics affect disease progression, and thereby the need for joint placement. Therefore, we aimed to investigate whether the genetic associations of knee and hip osteoarthritis differ between patients treated with joint replacement and patients without joint replacement. Methods: We included knee and hip osteoarthritis cases along with healthy controls, altogether counting >700 000 individuals. The cases were divided into two groups based on joint replacement status (surgical vs non-surgical) and included in four genome-wide association meta-analyses: surgical knee osteoarthritis (N = 22 525), non-surgical knee osteoarthritis (N = 38 626), surgical hip osteoarthritis (N = 20 221) and non-surgical hip osteoarthritis (N = 17 847). In addition, we tested for genetic correlation between the osteoarthritis groups and the pain phenotypes intervertebral disc disorder, dorsalgia, fibromyalgia, migraine and joint pain. Results: We identified 52 sequence variants associated with knee osteoarthritis (surgical: 17, non-surgical: 3) or hip osteoarthritis (surgical: 34, non-surgical: 1). For the surgical phenotypes, we identified 10 novel variants, including genes involved in autophagy (rs2447606 in Conclusions: Our results indicate differences in genetic associations between knee and hip osteoarthritis depending on joint replacement status.
MeSH term(s)	Humans ; Osteoarthritis, Hip/genetics ; Osteoarthritis, Hip/surgery ; Osteoarthritis, Hip/complications ; Osteoarthritis, Knee/genetics ; Osteoarthritis, Knee/surgery ; Osteoarthritis, Knee/complications ; Arthroplasty, Replacement, Knee ; Genome-Wide Association Study ; Mechanotransduction, Cellular ; Arthroplasty, Replacement, Hip ; Knee Joint/surgery ; Pain ; Ion Channels
Chemical Substances	PIEZO1 protein, human ; Ion Channels
Language	English
Publishing date	2022-11-14
Publishing country	England
Document type	Meta-Analysis ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	7090-7
ISSN	1468-2060 ; 0003-4967
ISSN (online)	1468-2060
ISSN	0003-4967
DOI	10.1136/ard-2022-223199
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Uh III Zs.114: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Genetic risk score and cardiovascular events in women.

Holm, Hilma / Thorleifsson, Gudmar / Stefansson, Kari

JAMA

2010 Volume 303, Issue 20, Page(s) 2032; author reply 2032–3

MeSH term(s)	Cardiovascular Diseases/epidemiology ; Cardiovascular Diseases/genetics ; Female ; Genetic Markers ; Humans ; Polymorphism, Single Nucleotide ; Risk Assessment/methods ; Risk Factors
Chemical Substances	Genetic Markers
Language	English
Publishing date	2010-05-26
Publishing country	United States
Document type	Comment ; Letter
ZDB-ID	2958-0
ISSN	1538-3598 ; 0254-9077 ; 0002-9955 ; 0098-7484
ISSN (online)	1538-3598
ISSN	0254-9077 ; 0002-9955 ; 0098-7484
DOI	10.1001/jama.2010.660
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Article ; Online: Sequence variants affecting voice pitch in humans.

Gisladottir, Rosa S / Helgason, Agnar / Halldorsson, Bjarni V / Helgason, Hannes / Borsky, Michal / Chien, Yu-Ren / Gudnason, Jon / Gudjonsson, Sigurjon A / Moisik, Scott / Dediu, Dan / Thorleifsson, Gudmar / Tragante, Vinicius / Bustamante, Mariana / Jonsdottir, Gudrun A / Stefansdottir, Lilja / Rutsdottir, Gudrun / Magnusson, Sigurdur H / Hardarson, Marteinn / Ferkingstad, Egil /

Halldorsson, Gisli H / Rognvaldsson, Solvi / Skuladottir, Astros / Ivarsdottir, Erna V / Norddahl, Gudmundur / Thorgeirsson, Gudmundur / Jonsdottir, Ingileif / Ulfarsson, Magnus O / Holm, Hilma / Stefansson, Hreinn / Thorsteinsdottir, Unnur / Gudbjartsson, Daniel F / Sulem, Patrick / Stefansson, Kari

Science advances

2023 Volume 9, Issue 23, Page(s) eabq2969

Abstract: The genetic basis of the human vocal system is largely unknown, as are the sequence variants that give rise to individual differences in voice and speech. Here, we couple data on diversity in the sequence of the genome with voice and vowel acoustics in ... ...

Abstract	The genetic basis of the human vocal system is largely unknown, as are the sequence variants that give rise to individual differences in voice and speech. Here, we couple data on diversity in the sequence of the genome with voice and vowel acoustics in speech recordings from 12,901 Icelanders. We show how voice pitch and vowel acoustics vary across the life span and correlate with anthropometric, physiological, and cognitive traits. We found that voice pitch and vowel acoustics have a heritable component and discovered correlated common variants in
MeSH term(s)	Humans ; Speech Acoustics ; Voice ; Speech/physiology ; Acoustics
Language	English
Publishing date	2023-06-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	2810933-8
ISSN	2375-2548 ; 2375-2548
ISSN (online)	2375-2548
ISSN	2375-2548
DOI	10.1126/sciadv.abq2969
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