Document Detail


Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study.
MedLine Citation:
PMID:  20360039     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
OBJECTIVES: Achilles tendon pathology is a multifactorial condition for which various risk factors, including genetic factors, have been identified. Gene transfection of two members of the TGF-β family, TGF-β1 and growth/differentiation factor-5 (GDF-5), have been shown to enhance tendon repair and mechanical strength within animal Achilles tendon injury models. The objective of this study was to investigate whether two functional 5' untranslated region (UTR) single nucleotide polymorphisms (SNPs), the TGFB1 rs1800469 variant and the GDF5 rs143383 variant, were associated with ATP within an Australian ('AUS') and a South African ('SA') case-control cohort.
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 χ(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.
Authors:
Michael Posthumus; Malcolm Collins; Jill Cook; Christopher J Handley; William J Ribbans; Roger K W Smith; Martin P Schwellnus; Stuart M Raleigh
Related Documents :
17725629 - The transcription factor 7-like 2 (tcf7l2) gene is associated with type 2 diabetes in u...
20562129 - Candidate genes for copd in two large data sets.
16489479 - Mthfr c677t and a1298c polymorphisms are risk factors for down's syndrome in indian mot...
22438999 - Host genetics and chlamydia disease: prediction and validation of disease severity mech...
22094129 - Familial amyloid polyneuropathy.
20532959 - Relationship between paraoxonase 1 (pon1) gene polymorphisms and susceptibility of stro...
2110899 - A point mutation in the tyrosinase gene of balb/c albino mouse causing the cysteine----...
16793929 - Genomic rearrangements at the brca1 locus in spanish families with breast/ovarian cancer.
19710689 - A functional abcc11 allele is essential in the biochemical formation of human axillary ...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-04-01
Journal Detail:
Title:  Rheumatology (Oxford, England)     Volume:  49     ISSN:  1462-0332     ISO Abbreviation:  Rheumatology (Oxford)     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100883501     Medline TA:  Rheumatology (Oxford)     Country:  England    
Other Details:
Languages:  eng     Pagination:  2090-7     Citation Subset:  AIM; IM    
Affiliation:
The Division of Health and Life Sciences, School of Health, University of Northampton, Park Campus, Northampton, UK. mposthumus@mweb.co.za
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Comments/Corrections
Comment In:
Rheumatology (Oxford). 2010 Nov;49(11):2005-6   [PMID:  20488926 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Prevalence and risk factors of vertebral fractures in women with rheumatoid arthritis using vertebra...
Next Document:  Localized vasculitis of the gastrointestinal tract: a case series.