Association of CD24 gene polymorphisms with susceptibility to biopsy-proven giant cell arteritis.
OBJECTIVE
To investigate the possible implication of CD24 gene in the genetic predisposition to giant cell arteritis (GCA).


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).


CONCLUSIONS
Our results suggest a potential role for the CD24 gene in the susceptibility to GCA in our population.
Rueda
Blanca
B
Division of Rheumatology, Hospital Xeral-Calde, Lugo, Spain.
Miranda-Filloy
Jose A
JA
Martin
Javier
J
Gonzalez-Gay
Miguel A
MA
D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D051927:CD24 Antigen / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D013700:Giant Cell Arteritis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D013030:Spain; D013699:Temporal Arteries / Q000473:pathology*
D051927:CD24 Antigen