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A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene.

Publication ,  Journal Article
Mu, S-C; Liu, H-C; Wu, J-Y; Lee, M-TM; Chuang, H-P; Chen, L-K; Chen, Y-T
Published in: Rheumatology (Oxford)
April 2009

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.

Duke Scholars

Published In

Rheumatology (Oxford)

DOI

EISSN

1462-0332

Publication Date

April 2009

Volume

48

Issue

4

Start / End Page

371 / 374

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Radiography
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Pedigree
  • Osteoarthritis, Knee
  • Osteoarthritis, Hip
  • Osteoarthritis
  • Male
  • Knee Joint
 

Citation

APA
Chicago
ICMJE
MLA
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Mu, S.-C., Liu, H.-C., Wu, J.-Y., Lee, M.-T., Chuang, H.-P., Chen, L.-K., & Chen, Y.-T. (2009). A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene. Rheumatology (Oxford), 48(4), 371–374. https://doi.org/10.1093/rheumatology/kep010
Mu, Shu-Chi, Hwa-Chang Liu, Jer-Yuarn Wu, Ming-Ta Michael Lee, Hui-Ping Chuang, Liang-Kuang Chen, and Yuan-Tsong Chen. “A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene.Rheumatology (Oxford) 48, no. 4 (April 2009): 371–74. https://doi.org/10.1093/rheumatology/kep010.
Mu S-C, Liu H-C, Wu J-Y, Lee M-TM, Chuang H-P, Chen L-K, et al. A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene. Rheumatology (Oxford). 2009 Apr;48(4):371–4.
Mu, Shu-Chi, et al. “A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene.Rheumatology (Oxford), vol. 48, no. 4, Apr. 2009, pp. 371–74. Pubmed, doi:10.1093/rheumatology/kep010.
Mu S-C, Liu H-C, Wu J-Y, Lee M-TM, Chuang H-P, Chen L-K, Chen Y-T. A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene. Rheumatology (Oxford). 2009 Apr;48(4):371–374.
Journal cover image

Published In

Rheumatology (Oxford)

DOI

EISSN

1462-0332

Publication Date

April 2009

Volume

48

Issue

4

Start / End Page

371 / 374

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Radiography
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Pedigree
  • Osteoarthritis, Knee
  • Osteoarthritis, Hip
  • Osteoarthritis
  • Male
  • Knee Joint