Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
(2014) In Nature Genetics 46(5). p.498-502- Abstract
- Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders. We found two significantly associated loci in the Icelandic discovery set: at 15q22 (frequency of 50.7%, odds ratio (OR) = 1.51, P = 3.99 × 10(-10)) in the ALDH1A2 gene and at 1p31 (frequency of 0.02%, OR = 50.6, P = 9.8 × 10(-10)). Among the carriers of the variant at 1p31 is a family with several members in whom the risk allele segregates with osteoarthritis. The... (More)
- Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders. We found two significantly associated loci in the Icelandic discovery set: at 15q22 (frequency of 50.7%, odds ratio (OR) = 1.51, P = 3.99 × 10(-10)) in the ALDH1A2 gene and at 1p31 (frequency of 0.02%, OR = 50.6, P = 9.8 × 10(-10)). Among the carriers of the variant at 1p31 is a family with several members in whom the risk allele segregates with osteoarthritis. The variants within the ALDH1A2 gene were confirmed in replication sets from The Netherlands and the UK, yielding an overall association of OR = 1.46 and P = 1.1 × 10(-11) (rs3204689). (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4430149
- author
- Styrkarsdottir, Unnur
; Thorleifsson, Gudmar
; Helgadottir, Hafdis T
; Bomer, Nils
; Metrustry, Sarah
; Bierma-Zeinstra, S
; Strijbosch, Annelieke M
; Evangelou, Evangelos
; Hart, Deborah
; Beekman, Marian
; Jonasdottir, Aslaug
; Sigurdsson, Asgeir
; Eiriksson, Finnur F
; Thorsteinsdottir, Margret
; Frigge, Michael L
; Kong, Augustine
; Gudjonsson, Sigurjon A
; Magnusson, Olafur T
; Masson, Gisli
; Hofman, Albert
; Arden, Nigel K
; Ingvarsson, Thorvaldur
; Lohmander, Stefan
LU
; Kloppenburg, Margreet
; Rivadeneira, Fernando
; Nelissen, Rob G H H
; Spector, Tim
; Uitterlinden, Andre
; Slagboom, P Eline
; Thorsteinsdottir, Unnur
; Jonsdottir, Ingileif
; Valdes, Ana M
; Meulenbelt, Ingrid
; van Meurs, Joyce
; Jonsson, Helgi
and Stefansson, Kari
(Less) - organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 46
- issue
- 5
- pages
- 498 - 502
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:24728293
- wos:000335422900019
- scopus:84899638695
- pmid:24728293
- ISSN
- 1546-1718
- DOI
- 10.1038/ng.2957
- language
- English
- LU publication?
- yes
- id
- 76bf7c1c-6b48-4efa-a3b0-ed3e3e571331 (old id 4430149)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/24728293?dopt=Abstract
- date added to LUP
- 2016-04-01 10:52:15
- date last changed
- 2023-01-02 08:35:50
@article{76bf7c1c-6b48-4efa-a3b0-ed3e3e571331,
abstract = {{Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders. We found two significantly associated loci in the Icelandic discovery set: at 15q22 (frequency of 50.7%, odds ratio (OR) = 1.51, P = 3.99 × 10(-10)) in the ALDH1A2 gene and at 1p31 (frequency of 0.02%, OR = 50.6, P = 9.8 × 10(-10)). Among the carriers of the variant at 1p31 is a family with several members in whom the risk allele segregates with osteoarthritis. The variants within the ALDH1A2 gene were confirmed in replication sets from The Netherlands and the UK, yielding an overall association of OR = 1.46 and P = 1.1 × 10(-11) (rs3204689).}},
author = {{Styrkarsdottir, Unnur and Thorleifsson, Gudmar and Helgadottir, Hafdis T and Bomer, Nils and Metrustry, Sarah and Bierma-Zeinstra, S and Strijbosch, Annelieke M and Evangelou, Evangelos and Hart, Deborah and Beekman, Marian and Jonasdottir, Aslaug and Sigurdsson, Asgeir and Eiriksson, Finnur F and Thorsteinsdottir, Margret and Frigge, Michael L and Kong, Augustine and Gudjonsson, Sigurjon A and Magnusson, Olafur T and Masson, Gisli and Hofman, Albert and Arden, Nigel K and Ingvarsson, Thorvaldur and Lohmander, Stefan and Kloppenburg, Margreet and Rivadeneira, Fernando and Nelissen, Rob G H H and Spector, Tim and Uitterlinden, Andre and Slagboom, P Eline and Thorsteinsdottir, Unnur and Jonsdottir, Ingileif and Valdes, Ana M and Meulenbelt, Ingrid and van Meurs, Joyce and Jonsson, Helgi and Stefansson, Kari}},
issn = {{1546-1718}},
language = {{eng}},
number = {{5}},
pages = {{498--502}},
publisher = {{Nature Publishing Group}},
series = {{Nature Genetics}},
title = {{Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.}},
url = {{https://lup.lub.lu.se/search/files/2200323/4732319.pdf}},
doi = {{10.1038/ng.2957}},
volume = {{46}},
year = {{2014}},
}