Rheumatology Advance Access originally published online on February 17, 2009
Rheumatology 2009 48(4):371-374; doi:10.1093/rheumatology/kep010
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A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene
1Institute of Clinical Medicine, National Yang-Ming University, 2College of Medicine, Fu-Jen Catholic University, 3Department of Pediatrics, Shin-Kong Wu Ho-Su Memorial Hospital, 4Department of Orthopedics, National Taiwan University Hospital, 5Taiwan Adventist Hospital, Songshan District, 6Institute of Biomedical Sciences, Academia Sinica, 7Department of Radiology, Shin-Kong Wu Ho-Su Memorial Hospital, 8Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan and 9Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Correspondence to: Yuan-Tsong Chen, Institute of Biomedical Sciences, Academia Sinica, 115 Taipei, Taiwan. E-mail: chen0010{at}ibms.sinica.edu.tw
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Abstract |
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Objectives. To characterize a large extended family with early-onset OA of the knee and investigate its associations with the COL2A1 gene.
Methods. Phenotype assessments were conducted in a six-generation family to identify individuals affected with OA. Short tandem repeat polymorphic (STRP) markers and DNA sequencing were performed to investigate the involvement of the COL2A1 gene in this family.
Results. The kindred affected with OA showed autosomal dominant inheritance. The mean age of onset was 37.3 ± 19.2, 29.8 ± 13.7 and 12.0 ± 7.2 years for generations IV, V and VI, respectively, and 25 ± 16.1 years for males and 34.3 ± 15.5 years for females. The height of the affected males was shorter than the unaffected males (155.9 ± 11.4 vs 164.5 ± 16.0 cm, P = 0.010). Arm span in the affected males was also significantly shorter than the unaffected males (158.4 ± 12.5 vs 165.3 ± 16.7 cm, P = 0.027). However, both height and arm span were not reduced in the affected female OA patients. STRP markers surrounding COL2A1 locus did not show linkage of the COL2A1 locus with the OA. Sequencing of COL2A1 gene revealed three single nucleotide polymorphisms but no mutation was found in the affected patients.
Conclusions. The COL2A1 was not a susceptibility gene responsible for the OA phenotype in a large extended kindred with familial early-onset OA. The availability of DNA samples will allow genome-wide linkage study to identify the susceptibility locus.
KEY WORDS: Early-onset OA, COL2A1 gene, Short tandem repeat polymorphic markers, Phenotype, Genome-wide linkage
Submitted 28 August 2008;
revised version accepted 13 January 2009.
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