Arthritis & Rheumatism · 1998 · 43 citations · 14 references
MedicineGeneticsMolecular GeneticsBone MetabolismHuman GeneticsMedical GeneticsBone DisordersBone HealthJoint DiseaseOsteoarthritisGenetic Mutation DetectionGenetic PolymorphismsGenotype Frequency Estimation
OBJECTIVE: To evaluate whether DNA polymorphisms of the VDR (vitamin D receptor), COL1A1 (alpha1 type I collagen), and COL2A1 (alpha1 type II collagen) genes, which have previously been linked to bone mineral density (BMD) and/or osteoarthritis (OA), are also associated with OA of the hip (OAH). METHODS: Genotype frequency distributions were compared between a group of 239 elderly healthy female controls and a group of 75 female OAH patients who underwent total hip replacement. All participants underwent BMD measurements of the total body, lumbar spine, and femoral neck. Mutation detection was done using polymerase chain reaction followed by restriction enzyme digestion. Polymorphisms were detected by digestion with Bsm I for VDR, Acc B7I for COL1A1, and Pvu II for COL2A1. RESULTS: None of the genotype frequency distributions of any of the examined polymorphisms was significantly different between the OAH group and the control group. No significant differences in BMD variables were observed after stratification of the subjects according to the examined genotypes within each study group. CONCLUSION: In Belgian postmenopausal women, the examined polymorphisms of the candidate genes VDR, COL1A1, and COL2A1 do not significantly contribute to an increased prevalence of OAH or to differences in BMD.
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Prediction of bone density from vitamin D receptor alleles
Nigel A. Morrison, Jian Qi, Akifumi Tokita et al. · Nature · 1994 · 1.9K citations
Leena Ala‐Kokko, Clinton T. Baldwin, Roland W. Moskowitz et al. · Proceedings of the National Academy of Sciences · 1990 · 282 citations
Polymorphisms of the interleukin-6 gene are associated with bone mineral density
R.E. Murray, Fiona E. McGuigan, Struan F.A. Grant et al. · Bone · 1997 · 184 citations
Medicine, Genetics, Immunology +14