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Whole-genome sequen...
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis
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- Styrkarsdottir, Unnur (author)
- deCODE Genetics
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- Helgason, Hannes (author)
- deCODE Genetics,University of Iceland
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- Sigurdsson, Asgeir (author)
- deCODE Genetics
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show more...
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- Norddahl, Gudmundur L. (author)
- deCODE Genetics
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- Agustsdottir, Arna B. (author)
- deCODE Genetics
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- Reynard, Louise N. (author)
- University of Newcastle upon Tyne
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- Villalvilla, Amanda (author)
- University of Newcastle upon Tyne
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- Halldorsson, Gisli H. (author)
- deCODE Genetics
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- Jonasdottir, Aslaug (author)
- deCODE Genetics
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- Magnusdottir, Audur (author)
- deCODE Genetics
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- Oddson, Asmundur (author)
- deCODE Genetics
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- Sulem, Gerald (author)
- deCODE Genetics
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- Zink, Florian (author)
- deCODE Genetics
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- Sveinbjornsson, Gardar (author)
- deCODE Genetics
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- Helgason, Agnar (author)
- deCODE Genetics,University of Iceland
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- Johannsdottir, Hrefna S. (author)
- deCODE Genetics
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- Helgadottir, Anna (author)
- deCODE Genetics
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- Stefansson, Hreinn (author)
- deCODE Genetics
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- Gretarsdottir, Solveig (author)
- deCODE Genetics
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- Rafnar, Thorunn (author)
- deCODE Genetics
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- Almdahl, Ina S. (author)
- Akershus University Hospital
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- Brækhus, Anne (author)
- Vestfold Hospital,Oslo university hospital
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- Fladby, Tormod (author)
- University of Oslo,Akershus University Hospital
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- Selbæk, Geir (author)
- Innlandet Hospital Trust,University of Oslo,Vestfold Hospital
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- Hosseinpanah, Farhad (author)
- Shahid Beheshti University of Medical Sciences
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- Azizi, Fereidoun (author)
- Shahid Beheshti University of Medical Sciences
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- Koh, Jung Min (author)
- University of Ulsan
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- Tang, Nelson L.S. (author)
- Chinese University of Hong Kong
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- Daneshpour, Maryam S. (author)
- Shahid Beheshti University of Medical Sciences
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- Mayordomo, Jose I. (author)
- Lozano Blesa University Hospital
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- Welt, Corrine (author)
- University of Utah
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- Braund, Peter S. (author)
- University of Leicester,Glenfield Hospital
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- Samani, Nilesh J. (author)
- Glenfield Hospital,University of Leicester
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- Kiemeney, Lambertus A. (author)
- Radboud University Medical Center
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- Lohmander, L. Stefan (author)
- Lund University,Lunds universitet,Lund OsteoArthritis Division - Nedbrytning av ledbrosk: en biologisk process som leder till artros,Forskargrupper vid Lunds universitet,Lund OsteoArthritis Division - Molecular marker research group,Lund University Research Groups
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- Christiansen, Claus (author)
- Nordic Bioscience AS
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- Andreassen, Ole A. (author)
- Oslo university hospital,University of Oslo
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- Magnusson, Olafur (author)
- deCODE Genetics
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- Masson, Gisli (author)
- deCODE Genetics
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- Kong, Augustine (author)
- deCODE Genetics
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- Jonsdottir, Ingileif (author)
- University of Iceland,National University Hospital of Iceland,deCODE Genetics
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- Gudbjartsson, Daniel (author)
- University of Iceland,deCODE Genetics
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- Sulem, Patrick (author)
- deCODE Genetics
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- Jonsson, Helgi (author)
- National University Hospital of Iceland,University of Iceland
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- Loughlin, John (author)
- University of Newcastle upon Tyne
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- Ingvarsson, Thorvaldur (author)
- University of Akureyri,Akureyri Central Hospital,National University Hospital of Iceland
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- Thorsteinsdottir, Unnur (author)
- University of Iceland,deCODE Genetics
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- Stefansson, Kari (author)
- University of Iceland,deCODE Genetics
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(creator_code:org_t)
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- 2017-03-20
- 2017
- English 5 s.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:5, s. 801-805
- Related links:
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http://dx.doi.org/10...
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https://eprint.ncl.a...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10-12, odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs∗106), in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 × 10-18, OR = 7.71). On average, c.1141G>C heterozygotes and individuals homozygous for rs532464664 had their hip replacement operation 13.5 years and 4.9 years earlier than others (P = 0.0020 and P = 0.0026), respectively. We show that the full-length CHADL transcript is expressed in cartilage. Furthermore, the premature stop codon introduced by the CHADL frameshift mutation results in nonsense-mediated decay of the mutant transcripts.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Ortopedi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Orthopaedics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Styrkarsdottir, ...
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Helgason, Hannes
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Sigurdsson, Asge ...
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Norddahl, Gudmun ...
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Agustsdottir, Ar ...
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Reynard, Louise ...
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show more...
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Villalvilla, Ama ...
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Halldorsson, Gis ...
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Jonasdottir, Asl ...
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Magnusdottir, Au ...
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Oddson, Asmundur
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Sulem, Gerald
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Zink, Florian
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Sveinbjornsson, ...
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Helgason, Agnar
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Johannsdottir, H ...
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Helgadottir, Ann ...
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Stefansson, Hrei ...
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Gretarsdottir, S ...
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Rafnar, Thorunn
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Almdahl, Ina S.
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Brækhus, Anne
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Fladby, Tormod
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Selbæk, Geir
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Hosseinpanah, Fa ...
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Azizi, Fereidoun
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Koh, Jung Min
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Tang, Nelson L.S ...
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Daneshpour, Mary ...
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Mayordomo, Jose ...
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Welt, Corrine
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Braund, Peter S.
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Samani, Nilesh J ...
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Kiemeney, Lamber ...
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Lohmander, L. St ...
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Christiansen, Cl ...
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Andreassen, Ole ...
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Magnusson, Olafu ...
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Masson, Gisli
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Kong, Augustine
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Jonsdottir, Ingi ...
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Gudbjartsson, Da ...
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Sulem, Patrick
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Jonsson, Helgi
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Loughlin, John
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Ingvarsson, Thor ...
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Thorsteinsdottir ...
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Stefansson, Kari
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Orthopaedics
- Articles in the publication
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Nature Genetics
- By the university
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Lund University