Rheumatology Advance Access originally published online on November 30, 2004
Rheumatology 2005 44(3):318-322; doi:10.1093/rheumatology/keh489
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Rheumatology Vol. 44 No. 3 © British Society for Rheumatology 2004; all rights reserved
HLA allelic variants encoding DR11 in diffuse and limited systemic sclerosis in Caucasian women
1 Immunogenetics Program and 2 Cancer Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, 3 Division of Rheumatology, University of Washington, Seattle, WA, 4 Program in Epidemiology, Fred Hutchinson Cancer Research Center and Department of Epidemiology, University of Washington, Seattle, WA and 5 Rheumatology, University of California, Los Angeles, CA, USA.6 Present address: Laboratoire INSERM, U639, Immunogenetics of Rheumatoid Arthritis, Faculté de medecine de la Timone, Marseille, France.
Correspondence to: L. S. Loubière, Immunogenetics Program, D2-100, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA 98109, USA. E-mail: lloubier{at}fhcrc.org
Objective. We investigated HLA class II alleles in women with systemic sclerosis (SSc), a rare disease that preferentially affects women.
Methods. Specific alleles of DRB1, DQA1 and DQB1 were determined by DNA-based HLA typing for women with SSc (n = 102) and healthy women (n = 533). All study subjects were Caucasian. DRB1, DQA1 and DQB1 allele frequencies of women with SSc were compared with those of healthy women.
Results. Among women with SSc, 29.4% (30/102) and among healthy women 10.7% (57/533) had DRB1*11. Allele frequencies were compared for women with SSc and healthy women (each woman has two alleles). The allele frequency of DRB1*11 was 15.7% (32/204 alleles) in SSc women and 5.8% (62/1066 alleles) in healthy women (P = 0.000002). The increase of DRB1*11 was found both in diffuse (P = 0.0001) and limited SSc (P = 0.002) (allele frequencies 15.0 and 17.2%, respectively). Among women with diffuse SSc, there was a disproportionate increase of the DRB1*1104 allele (P = 0.0004) with no increase of DRB1*1101 (P = 1.00). In contrast, in limited SSc the strongest association was with DRB1*1101 (P = 0.008), with a less significant increase of DRB1*1104 (P = 0.04).
Conclusions. An increase of DRB1*11 in SSc is consistent with other reports. Although present in both diffuse and limited SSc disease subsets, the increase was predominantly due to over-representation of DRB1*1104 in women with diffuse SSc. Women with limited SSc had a preponderance of DRB1*1101, the most common allele in healthy women. DRB1*1104 and DRB1*1101 differ by a single amino acid at position 86, where the former has valine and the latter glycine.
KEY WORDS: Systemic sclerosis, HLA alleles, HLA-DRB1, Gender
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