Objective. To evaluate by molecular typing the possible associations of HLA
-DRB1, DQA1, and DQB1 alleles with biopsy proven giant cell arteritis (GCA)
in a Mediterranean country, and to examine possible relationships between
these alleles and GCA clinical subsets.
Methods. Thirty-nine patients from the Reggio Emilia area diagnosed over a
12 year period with biopsy proven GCA were studied. The clinical findings a
t diagnosis and during the followup were evaluated through interviews and b
y reviewing the medical records. HLA-DRB1, DQA1, and DQB1 alleles were dete
rmined in the 39 patients and in 250 healthy controls from the same geograp
hic area by polymerase chain reaction amplification using sequence-specific
primers.
Results. No associations were found between GCA and the shared epitope, the
DRYF epitope, or the DRB1*04 or DQA1 alleles. The only significant associa
tion was with DQB 1*0302 allele (p = 0.03, RR = 2.2). However, the associat
ion was weak and the significance was lost when corrected for the number of
antigens tested. The frequencies of DQB 1*0301 and 0302 in DR4 patients we
re not significantly different from those observed in DR4 positive controls
. Significant associations were found between DRB1*04 allele and the presen
ce of systemic signs and/or symptoms (p = 0.04, RR = 1.5) and between DRB1*
07 allele and the male patients (p = 0.04, RR = 2.6).
Conclusion. Our data showed no associations of biopsy proven GCA with HLA-D
RB1*04 and HLA-DRB1*01 alleles, rheumatoid epitope, or DRYF epitope. Discre
pancies with other studies may be related to the different ethnic backgroun
ds of the populations studied and to differences in the referral patterns o
f patients with GCA.