DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Osteoarthritis (hand, severe). The EFO term osteoarthritis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: osteoarthritis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

U Styrkarsdottir, G Thorleifsson, HT Helgadottir, N Bomer, S Metrustry, S Bierma-Zeinstra, AM Strijbosch, E Evangelou, D Hart, M Beekman, A Jonasdottir, A Sigurdsson, FF Eiriksson, M Thorsteinsdottir, ML Frigge, A Kong, SA Gudjonsson, OT Magnusson, G Masson, A Hofman, NK Arden, T Ingvarsson, S Lohmander, M Kloppenburg, F Rivadeneira, RG Nelissen, T Spector, A Uitterlinden, PE Slagboom, U Thorsteinsdottir, I Jonsdottir, AM Valdes, I Meulenbelt, J van Meurs, H Jonsson, K Stefansson

TITLE:

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

JOURNAL:

Nature genetics May 2014, Vol 46, pp. 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 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). PUBMED: 24728293
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