An intron polymorphism of the fibronectin gene is associated with end-stage knee osteoarthritis in a Han Chinese population: Two independent case - Control studies

Hsin Yi Yang, Sui Lung Su, Yi Jen Peng, Chih Chien Wang, Herng Sheng Lee, Donald M. Salter, Chian Her Lee

研究成果: 雜誌貢獻文章同行評審

3 引文 斯高帕斯(Scopus)

摘要

Background: Knee osteoarthritis (OA) is a complex disease involving both biomechanical and metabolic factors that alter the tissue homeostasis of articular cartilage and subchondral bone. The catabolic activities of extracellular matrix degradation products, especially fibronectin (FN), have been implicated in mediating cartilage degradation. Chondrocytes express several members of the integrin family which can serve as receptors for FN including integrins 5β1, vβ3, and vβ5. The purpose of this study was to determine whether polymorphisms in the FN (FN-1) and integrin genes are markers of susceptibility to, or severity of, knee OA in a Han Chinese population. Methods. Two independent case-control studies were conducted on 928 patients with knee OA and 693 healthy controls. Ten single nucleotide polymorphisms (SNPs) of FN-1 and the integrin V gene (ITGAV) were detected using the ABI 7500 real-time PCR system. Results: The AT heterozygote in FN-1 (rs940739A/T) was found to be significantly associated with knee OA (adjusted OR = 1.44; 95% CI = 1.16-1.80) in both stages of the study. FN-1 rs6725958C/A and ITGAV rs10174098A/G SNPs were only associated with knee OA when both study groups were combined. Stratifying the participants by Kellgren-Lawrence (KL) score identified significant differences in the FN-1 rs6725958C/A and rs940739 A/T genotypes between patients with grade 4 OA and controls. Haplotype analyses revealed that TGA and TAA were associated with a higher risk of OA, and that TAG conferred a lower risk of knee OA in the combined population. Conclusions: Our study suggests that the FN-1 rs940739A/T polymorphism may be an important risk factor of genetic susceptibility to knee OA in the Han Chinese population.

原文英語
文章編號173
期刊BMC Musculoskeletal Disorders
15
發行號1
DOIs
出版狀態已發佈 - 5月 23 2014

ASJC Scopus subject areas

  • 骨科和運動醫學
  • 風濕病
  • 醫藥 (全部)

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