Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee.
- 15 July 1997
- journal article
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 100 (2), 259-263
- https://doi.org/10.1172/jci119530
Abstract
Osteoporosis and osteoarthritis are age-related disorders of the skeleton with genetic components. Low bone density is a risk factor for osteoporotic fracture while osteoarthritis is associated with increased bone density. The 1,25-dihydroxyvitamin D3 receptor (VDR) gene locus was previously found to be associated with bone density. We therefore studied the relationship between radiographic osteoarthritis at the knee and VDR genotype in a population-based sample (n = 846), using molecular haplotyping of anonymous intragenic DNA polymorphisms. Radiographic osteoarthritis was defined using the Kellgren score, which is based on the assessment of osteophytes and joint space narrowing (JSN). We show that one VDR haplotype allele is significantly overrepresented in individuals with knee osteoarthritis and associated with a 2.27-fold increased relative risk (95% confidence interval 1.46, 3.52). Adjustment for bone density at the femoral neck did not change these results, indicating that the association is not mediated by bone density. The association appeared to be largely explained by the presence of osteophytes rather than JSN. Our results indicate a role of the VDR gene in the pathogenesis of osteophytes while linkage disequilibrium with another nearby gene, i.e., the collagen type IIa1 gene encoding the most abundant protein in cartilage, might contribute to the association.Keywords
This publication has 32 references indexed in Scilit:
- A large-scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral densityJournal of Bone and Mineral Research, 1996
- Relation of Dietary Intake and Serum Levels of Vitamin D to Progression of Osteoarthritis of the Knee among Participants in the Framingham StudyAnnals of Internal Medicine, 1996
- Genetic influences on osteoarthritis in women: a twin studyBMJ, 1996
- Vitamin D receptor gene alleles and osteoporosis: An affirmative viewJournal of Bone and Mineral Research, 1995
- Radiographic criteria for epidemiologic studies of osteoarthritis.1995
- Genetic determinants of bone mass in adults. A twin study.JCI Insight, 1987
- The Relationship between Osteoporosis and OsteoarthritisClinics in Rheumatic Diseases, 1985
- Mechanical aspects of osteoarthrosis.1976
- Bone density, osteoarthrosis of the hip, and fracture of the upper end of the femur.Annals Of The Rheumatic Diseases, 1972
- Genetic Factors in Generalized Osteo-ArthrosisAnnals Of The Rheumatic Diseases, 1963