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Association of CD24 Gene Polymorphisms with Susceptibility to Biopsy-Proven Giant Cell Arteritis BLANCA RUEDA, JOSE A. MIRANDA-FILLOY, JAVIER MARTIN, and MIGUEL A. GONZALEZ-GAY
ABSTRACT. Methods. A total of 120 patients diagnosed with biopsy-proven GCA and 195 ethnically matched controls from the same region were studied. Two putative functional polymorphisms, a C to T coding polymorphism (rs8734) and a TG deletion in the 3' untranslated region (rs3838646) were used as CD24 genetic markers and genotyped using a Taqman 5' allelic discrimination assay. Results. The 2 genetic variants showed statistically significant differences between patients with GCA and controls. The strongest association was observed for the rs3838646 TG/del polymorphism, conferring on the "del" allele an increased risk of GCA genetic susceptibility (odds ratio 1.94, 95% confidence interval 1.15–3.27, p = 0.01). In addition, genotypes carrying the rs3838646 "del" allele showed an increased frequency among GCA patients compared to controls (OR 2.31, 95% CI 1.30–4.1, p = 0.003). For the rs8743, an increased frequency of Val/Val homozygous individuals in patients with GCA compared to controls (OR 6.08, 95% CI 1.50–24.63, p = 0.001) was observed. A high degree of linkage disequilibrium was estimated between the 2 polymorphisms (D' = 0.7) and the C/del haplotype was associated with an increased risk of GCA susceptibility (OR 2.10, 95% CI 1.23–3.60, p = 0.005), whereas the C/TG haplotype showed a protective effect (OR 0.63, 95% CI 0.45–0.87, p = 0.005). Conclusion. Our results suggest a potential role for the CD24 gene in the susceptibility to GCA in our population. (First Release Mar 15 2008; J Rheumatol 2008;35:850-4) Key Indexing Terms:
GIANT CELL ARTERITIS
From Consejo Superior de Investigaciones Cientificas (CSIC), Granada; and Division of Rheumatology, Hospital Xeral-Calde, Lugo, Spain. B. Rueda, PhD; J. Martin, MD, PhD, CSIC; J.A. Miranda-Filloy, MD, M.A. Gonzalez-Gay, MD, PhD, Division of Rheumatology, Hospital Xeral-Calde. Dr. Gonzalez-Gay and Dr. Martin share senior authorship in this study. Address reprint requests to Dr. M.A. Gonzalez-Gay, Rheumatology Division, Hospital Xeral-Calde, c) Dr. Ochoa s/n, 27004, Lugo, Spain. E-mail:miguelaggay@hotmail.com Accepted for publication December 20, 2007. |
