RT Journal Article
SR Electronic
T1 Lack of Association Between the rs6920220 (G/A) Polymorphism of the 6q23 Region and Biopsy-proven Giant Cell Arteritis
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP jrheum.091142
DO 10.3899/jrheum.091142
A1 Rogelio Palomino-Morales
A1 Orlando Torres
A1 Tomas R. Vazquez-Rodriguez
A1 Santos Castañeda
A1 Inmaculada C. Morado
A1 Jose A. Miranda-Filloy
A1 Encarnacion Amigo-Diaz
A1 Jose L. Callejas-Rubio
A1 Benjamin Fernandez-Gutierrez
A1 Javier Martin
A1 Miguel A. Gonzalez-Gay
YR 2010
UL http://www.jrheum.org/content/early/2010/03/12/jrheum.091142.abstract
AB Objective Recently, 2 independent studies have identified an association between several single-nucleotide polymorphisms (SNP) located in the 6q23 chromosomal region and rheumatoid arthritis (RA). Like RA, giant cell arteritis (GCA) is also a complex polygenic disease in which more than 1 genetic locus is likely to contribute to disease susceptibility and clinical expression. We analyzed the involvement of the rs6920220 (G/A) polymorphism from the 6q23/TNFAIP3 gene region in susceptibility to GCA. Methods Two hundred twenty patients with biopsy-proven GCA and 490 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the 6q23 region rs6920220 using a TaqMan allele discrimination assay and by polymerase chain reaction (PCR) amplification. After PCR, the genotype of each sample was attributed automatically by allelic-specific fluorescence using the ABI Prism 7900 sequence detection system. Results No significant differences in the genotype distribution between patients with GCA and controls for the rs6920220 (G/A) polymorphism were found. No significant differences were observed when patients with GCA were stratified according to the presence of specific clinical features of the disease such as polymyalgia rheumatica or severe ischemic manifestations or specific visual ischemic complications. Conclusion Our results show no involvement of this 6q23/TNFAIP3 gene region SNP in the susceptibility to or clinical expression of GCA.