ArticleArthritis research & therapy2005
Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.
Article in Arthritis research & therapy, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 52 citations in OpenAlex.
- Impact of theFrontiers in endocrinology · 2025Article
- Macro, Micro, and Molecular. Changes of the Osteochondral Interface in Osteoarthritis Development.Frontiers in cell and developmental biology · 2021Review
- Hand osteoarthritis: clinical phenotypes, molecular mechanisms and disease management.Nature reviews. Rheumatology · 2018Review
- Condylar geometry variation is associated with ENPP1 variant in a population of patients with dento-facial deformities.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery · 2017Article
- Article
- The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.Arthritis research & therapy · 2014Article
- Combined effect of cytokine gene polymorphisms on end-stage knee osteoarthritis from Chinese Han population.Rheumatology international · 2012Article
- Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.Rheumatology international · 2012Article
- A significant association exists between receptor tyrosine kinase-like orphan receptor 2 gene variants and the OPG/RANKL ratio in human plasma.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2012Article
- Quantitative genetic study of the circulating osteopontin in community-selected families.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2011Article
- Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2010Article
- Genomewide linkage scan of hand osteoarthritis in female twin pairs showing replication of quantitative trait loci on chromosomes 2 and 19.Annals of the rheumatic diseases · 2007Article
- Strong association between polymorphisms in ANKH locus and skeletal size traits.Human genetics · 2006Article
- Physiologic and pathologic functions of the NPP nucleotide pyrophosphatase/phosphodiesterase family focusing on NPP1 in calcification.Purinergic signalling · 2006Article
- Crystals in hand.Arthritis research & therapy · 2005Article
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10 authors at 5 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This prompted us to perform a family-based association study to test the hypothesis that genetic variation at the ENPP1 locus is involved in the etiology of osteoarthritis of the hand. The study population comprised 126 nuclear families with 574 adult individuals living in small villages in the Chuvasha and Bashkirostan autonomies of the Russian Federation. The extent of osteoarthritis was determined by analyzing plain hand radiographs. The outcome of a principal component analysis of osteoarthritis scores of a total of 28 joints of both hands was used as a primary phenotype in this study. Maximum likelihood estimates of the variance component analysis revealed a substantial contribution of genetic factors to the overall trait variance of about 25% in this homogeneous population. Three short tandem repeat (STR) polymorphisms--one intragenic and two flanking markers--and four single-nucleotide polymorphisms were tested. The markers tagged the ENPP1 locus at nearly equal intervals. We used three different transmission disequilibrium tests and obtained highly significant association signals. Alleles of the upstream microsatellite marker as well as several single-nucleotide polymorphism haplotypes consistently revealed the association. Thus, our data highlights variability of ENPP1 as an important genetic factor in the pathogenesis of idiopathic osteoarthritis.
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