HLA and hypocomplementemia: The disadvantage of carrying the HLA-B35 and the silent alleles of the C4 complement component

M. Zorzetto, G. Ricevuti, M. Martinetti, D. Gritti, C. Gasparetto, A. De Silvestri, L. Salvaneschi, Mariaclara Cuccia

Research output: Contribution to journalArticlepeer-review

Abstract

Hypocomplementemia is an extremely complex phenomenon: we devoted our attention to its immunogenetic basis, particularly to the HLA haplotypes involved and to the study of C4 polymorphic genes. With this in mind we analyzed a group of unrelated patients with hypocomplementemia and 15 families suffering from specific C4 deficiency. Firstly, we performed a population analysis in order to, identify a statistically significant association: HLA-B35 and C4BQ0 alleles, in the total group of hypocomplementemic individuals, seem to be associated with the primary disease. Secondly, we defined HLA haplotypes clear-cut segregation in the hypocomplementemic families and we identified the most common HLA haplotypes carrying B35 and C4 null allele associated with this condition. With the aid of correspondence analysis and the Transmission Disequilibrium Test (TDT), we measured the strength of this association. In this work, mainly through family analysis, we envisaged a potentially interesting genomic trait, within HLA, close to B locus, that seems to be involved in hypocomplementemia itself and perhaps in hypocomplementemia-related disorders.

Original languageEnglish
Pages (from-to)307-316
Number of pages10
JournalInternational Journal of Immunopathology and Pharmacology
Volume17
Issue number3
Publication statusPublished - Sep 2004

Keywords

  • HLA Class III e Class I
  • Hypocomplementemia

ASJC Scopus subject areas

  • Pharmacology

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