期刊
RHEUMATOLOGY
卷 49, 期 11, 页码 2090-2097出版社
OXFORD UNIV PRESS
DOI: 10.1093/rheumatology/keq072
关键词
Growth; differentiation factor-5; Bone morphogenic protein 14; Cartilage-derived morphogenic protein 1; Gene; Tendinopathy; Tendon rupture; Tendon injury
类别
资金
- Leverhulme Trust [09851/B]
- National Research Foundation (NRF) of South Africa [FA2005021700015, FA2007032700010]
- University of Northampton
- South African Medical Research Council (MRC)
- University of Cape Town
Methods. One hundred and seventy-one subjects (58 AUS and 112 SA) with Achilles tendon pathology (ATP group) and 235 (142 AUS and 96 SA) asymptomatic control (CON group) subjects were genotyped for the selected SNPs using custom-designed Taqman assays. A chi(2)-analysis or Fisher's exact test was used to analyse any differences in the genotype and allele frequencies. Significance was accepted when P < 0.05. Results. There were no significant TGFB1 rs1800469 genotype (P = 0.491) or allele (P = 0.400) frequency differences between the ATP and CON groups. The TT genotype of the GDF5 rs143383 variant was significantly over-represented in the ATP group of the AUS cohort [P = 0.011; odds ratio (OR) = 2.24; 95% CI 1.21, 4.16], and when the AUS and SA cohorts were combined (P = 0.004; OR = 1.82; 95% CI 1.23, 2.74). Conclusions. In conclusion, this study suggests that individuals with a TT genotype of the functional GDF5 rs143383 variant have twice the risk of developing ATP. This finding highlights a role of GDF-5 in the pathogenesis of Achilles tendon pathology.
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