RT Journal Article
T1 Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians
A1 Rodríguez López, Julio
A1 Pombo Suárez, Manuel Enrique
A1 Liz, Myriam
A1 Gómez-Reino Carnota, Juan Jesús
A1 González Martínez-Pedrayo, Antonio
K1 Transform Growth Factor Beta
K1 Total Knee Replacement
K1 Anabolic Effect
K1 Aspartic Acid Residue
K1 Total Knee Replacement Patient
AB A recent genetic association study has identified a microsatellite in the coding sequence of the asporin gene as a susceptibility factor for osteoarthritis (OA). Alleles of this microsatellite determine the variable number of aspartic acid residues in the amino-terminal end of the asporin protein. Asporin binds directly to the growth factor transforming growth factor beta and inhibits its anabolic effects in cartilage, which include stimulation of collagen and aggrecan synthesis. The OA-associated allele, with 14 aspartic acid residues, inhibits the anabolic effects of transforming growth factor beta more strongly than other asporin alleles, leading to increased OA liability. We have explored whether the association found in several cohorts of Japanese hip OA and knee OA patients was also present in Spanish Caucasians. We studied patients that had undergone total joint replacement for primary OA in the hip (n = 303) or the knee (n = 188) and patients with hand OA (n = 233), and we compared their results with controls (n = 294) lacking overt OA clinical symptoms. No significant differences were observed in any of the multiple comparisons performed, which included global tests of allele frequency distributions and specific comparisons as well as stratification by affected joint and by sex. Our results, together with reports from the United Kingdom and Greece, indicate that the stretch of aspartic acid residues in asporin is not an important factor in OA susceptibility among European Caucasians. It remains possible that lifestyle, environmental or genetic differences allow for an important effect of asporin variants in other ethnic groups as has been reported in the Japanese, but this should be supported by additional studies
PB BMC
SN 1478-6354
YR 2006
FD 2006
LK http://hdl.handle.net/10347/22956
UL http://hdl.handle.net/10347/22956
LA eng
NO Rodriguez-Lopez, J., Pombo-Suarez, M., Liz, M. et al. Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians. Arthritis Res Ther 8, R55 (2006). https://doi.org/10.1186/ar1920
NO This project was supported by grant PI02/0713 form the Instituto de Salud Carlos III (Spain) with participation of funds from FEDER (European Union), and by a grant of the Fundacion Pedro Barrie de la Maza (A Corunna, Spain). JR-L is the recipient of a scholarship of the National Program for the Training of University Professors of the Spanish Ministry of Education. AG was supported by the Instituto de Salud Carlos III (Spain)
DS Minerva
RD 24 abr 2026