Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians

作者：Atif U^*; Philip A; Aponte J; Woldu E M; Brady S; Kraus V B; Jordan J M; Doherty M; Wilson A G; Moskowitz R W; Hochberg M; Loeser R; Renner J B; Chiano M

来源：Osteoarthritis and Cartilage, 2008, 16(10): 1174-1177.

DOI：10.1016/j.joca.2008.03.007

• Osteoarthritis
• Asporin
• Genetics
• Polymorphism
• Hand
• Knee

Objective: An association between osteoarthritis (OA) and functional polymorphisms in the aspartic acid (D) repeat of the asporin (ASPN) gene was reported in Japanese and Han Chinese populations. The aim of this study was to assess the association of variants in the ASPN gene with the presence of radiographic hand and/or knee CA in a US Caucasian population.
Methods: Ten single nucleotide polymorphisms (SNPs) within the ASPN gene were genotyped in 775 affected siblings with radiographically confirmed hand and/or knee OA, and the allelic, genotypic and haplotypic association results were examined.
Results: One variant (SNP RS7033979) showed nominal evidence of association with both hand CA (P - 0.042) and knee CA (P - 0.032). Four additional SNPs showed nominal evidence of association with knee CA only. These associations were only observed with genotypic tests; the corresponding allelic and haplotype tests did not corroborate the single-point association results.
Conclusion: These data suggest that polymorphisms within ASPN are not a major influence in susceptibility to hand or knee OA in US Caucasians.

• 出版日期2008-10