In:
European Journal of Endocrinology, Oxford University Press (OUP), Vol. 159, No. 1 ( 2008-07), p. 55-60
Abstract:
Polyglandular failure or autoimmunity (PGA) involves at least two endocrine diseases. Several genes may play a role in its etiology. This study analyzed 1) whether HLA-DRB1, HLA-DQB1, and MHC class I chain-related gene A (MICA) polymorphisms are associated in PGA and 2) whether PGA patients display stronger associations with these immune genes than patients with monoglandular autoimmunity (MGA). Design Association study. Methods HLA-DRB1, HLA-DQB1, and MICA alleles were analyzed in 73 patients with PGA, 283 with MGA, and 206 healthy controls. The HLA-DRB1 and HLA-DQB1 polymorphisms were determined with PCR-amplified DNA being hybridized with PCR-sequence-specific oligonucleotide probes. MICA microsatellites were typed by PCR amplification and fragment size analysis on a DNA sequencer. Results HLA-DRB1*03 was strongly increased in patients with PGA (50.7%) versus both controls (21.8%, P c 〈 0.0001; RR=2.32, 95% CI=1.62–3.33) and MGA (11.4%, P c 〈 0.0001). HLA-DRB1*03 was highly prevalent in PGA patients with early versus late disease onset ( P 〈 0.05, logistic regression analysis). HLA-DRB1*04 allele carriers were more present in PGA versus controls (53.4% vs 22.4%, P c 〈 0.0001, RR=2.38, 95% CI=1.68–3.38). Further, HLA-DQB1*02 was increased in PGA versus controls ( P c 〈 0.01), whereas HLA-DQB1*06 was decreased ( P c 〈 0.001). Patients with PGA showed more MIC A5.1 and less MIC A6 allele carriers than controls (NS). Presence of the MIC A5.1 allele was not associated with the HLA-DRB1*03 or HLA-DQB1 alleles. Conclusions HLA-DRB1*03 is a stronger genetic marker in PGA than in MGA, foremost in those with early disease onset.
Type of Medium:
Online Resource
ISSN:
0804-4643
,
1479-683X
Language:
Unknown
Publisher:
Oxford University Press (OUP)
Publication Date:
2008
detail.hit.zdb_id:
1485160-X
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