ArticleAnnals of the rheumatic diseases2007
Genomewide linkage scan of hand osteoarthritis in female twin pairs showing replication of quantitative trait loci on chromosomes 2 and 19.
Article in Annals of the rheumatic diseases, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 38 citations in OpenAlex.
- Genetic polymorphisms of SPP1 and MGP are associated with thumb osteoarthritis: a replication study in the Chinese population.Molecular biology reports · 2026Article
- Genetic polymorphism of WNT9A is functionally associated with thumb osteoarthritis in the Chinese population.Advances in rheumatology (London, England) · 2024Article
- An in-depth study of the associations between osteoarthritis- and osteoporosis-related phenotypes at different skeletal locations.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
- Expression profile of long noncoding RNA (HOTAIR) and its predicted target miR-17-3p in LPS-induced inflammatory injury in human articular chondrocyte C28/I2 cells.International journal of clinical and experimental pathology · 2017Article
- SMAD3 is associated with the total burden of radiographic osteoarthritis: the Chingford study.PloS one · 2014Article
- Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes.PloS one · 2014Article
- Dissecting complex phenotypes using the genomics of twins.Functional & integrative genomics · 2010Review
- Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.BMC medical genetics · 2010Article
- What epidemiology has told us about risk factors and aetiopathogenesis in rheumatic diseases.Arthritis research & therapy · 2009Article
- Biomarkers associated with clinical phenotypes of hand osteoarthritis in a large multigenerational family: the CARRIAGE family study.Osteoarthritis and cartilage · 2008Article
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8 authors at 3 institutions in 3 countries.
Funding
Abstract
BACKGROUND AND
objectiveUntil recently, there has been little agreement between conflicting results of osteoarthritis (OA) linkage. The purpose of this study was to conduct a whole-genome linkage scan to identify susceptibility loci for idiopathic hand OA in a large, population-based sample of females.
methodsTwo OA-related radiographic phenotypes DIP (distal interphalangeal joints)-OA and Tot-KL (Kellgren-Lawrence score for both hands) chosen a priori were examined on 538 (269 pairs) monozygous and 1256 (628 pairs) dizygous (DZ) females. A genome-wide scan using microsatellite markers spaced 10 cM apart was performed on 1028 DZ twins. First, the heritability of the two OA phenotypes was estimated. Next, multipoint linkage analysis was conducted using a modified version of the Haseman-Elston method in a generalised linear model.
resultsHeritability for DIP-OA and Tot-KL was found to be 47.6% and 67.4%, respectively. A genome-wide scan produced reliable evidence of significant linkage of DIP-OA on chromosome 2 at 90 cM (logarithmic odds ratio (LOD) = 2.90) and for Tot-KL on chromosome 19 at 65 cM (LOD = 4.26). These results are in agreement with data published previously. Several other significant linkage peaks were observed-for example, on chromosome 1 at 250 cM and on chromosome 3 at 30 cM-but were confirmed less reliably.
conclusionThis is one of the largest OA linkage studies performed to date and provides clear evidence for linkage at two quantitative trait loci (on chromosome 2 at 90 cM and on chromosome 19 at 65 cM). As the results were robust and replicated in previous smaller studies, the fine mapping of these regions is a logical next step to pinpoint potential susceptibility gene(s) of interest.
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