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  • Title: Anti-centromere antibodies (ACA) in systemic sclerosis patients and their relatives: a serological and HLA study.
    Author: McHugh NJ, Whyte J, Artlett C, Briggs DC, Stephens CO, Olsen NJ, Gusseva NG, Maddison PJ, Black CM, Welsh K.
    Journal: Clin Exp Immunol; 1994 May; 96(2):267-74. PubMed ID: 8187334.
    Abstract:
    Autoantibody reactivity to centromere proteins CENP-A, CENP-B and CENP-C was examined in 58 patients with systemic sclerosis (SSc), 218 first degree relatives and 22 spouses. HLA class II typing for HLA-DRB1 and HLA-DQA1 was performed by restriction fragment length polymorphism (RFLP) analysis in 50 families, and HLA-DRB1, HLA-DQA1 and HLA-DQB1 typing was performed by olignucleotide typing in 44 families. Eleven probands and two relatives had ACA. The two relatives with ACA also had SSc. One relative was an identical twin sister of a proband with ACA and the other relative was a sister of a proband with ACA. All ACA-positive probands and relatives were female, and all recognized CENP-A, CENP-B and CENP-C. The presence of at least one HLA-DQB1 allele not coding for leucine at position 26 of the first domain appeared necessary, although not sufficient for the generation of ACA. Therefore within SSc families ACA is strongly associated with female gender and disease phenotype, and is at least in part genetically determined.
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