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Evaluation of a Shared Autoimmune Disease-associated Polymorphism of TRAF6 in Systemic Sclerosis and Giant Cell Arteritis
The Journal of Rheumatology, 05/17/2012
Carmona FD et al. – The data do not support a role of the rs540386 TRAF6 variant as a key component of the genetic network underlying systemic sclerosis (SSc) and giant cell arteritis (GCA).
Methods- A total of 1185 patients with SSc, 479 patients with biopsy–proven GCA, and 1442 unrelated healthy controls of white Spanish origin were genotyped for the rs540386 variant using a specifically designed TaqMan allele discrimination assay.
- No significant associations of this SNP with global SSc or GCA were found.
- This was also the case when the potential associations of the TRAF6 polymorphism with the main clinical phenotypes of the 2 diseases (e.g., limited cutaneous and diffuse cutaneous SSc, or presence of polymyalgia rheuma – tica and visual ischemic manifestations in GCA) were assessed.
