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Both risk alleles for Fc gamma RIIA and Fc gamma RIIIA are susceptibility factors for SLE: a unifying hypothesis
KTH, Superseded Departments, Biotechnology.
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2004 (English)In: Genes and Immunity, ISSN 1466-4879, E-ISSN 1476-5470, Vol. 5, no 2, 130-137 p.Article in journal (Refereed) Published
Abstract [en]

The aim of this study was to analyze in families with SLE for the presence of linkage and the structure and transmission of haplotypes containing alleles for the low-affinity Fcgamma receptors. The Fcgamma receptor polymorphisms FcgammaRIIA-131R/H, FcgammaRIIIA176F/ V and FcgammaRIIIB-NA1/2 and a polymorphism in the FcgammaRIIB gene were genotyped with RFLP, allele-specific PCR or pyrosequencing. Individual SNPs and haplotypes were tested for linkage in multicase families and for association using contingency tables, transmission disequilibrium test and affected family-based control groups in Swedish and Mexican single-case families. No linkage or association could be detected using the FcgammaR polymorphisms in the multicase families. However, an association was found for both FcgammaRIIA-131R and IIIA-176F alleles in the single-case families, but not for IIIB or IIB. Allelic association to SLE was found for a haplotype that included both risk alleles, but not in haplotypes where only one or the other was present. We propose that FcgammaRIIA-131R and FcgammaRIIIA-176F are both risk alleles for SLE transmitted primarily, but not exclusively on a single major haplotype that behaves functionally in a situation similar to that of compound heterozygozity.

Place, publisher, year, edition, pages
2004. Vol. 5, no 2, 130-137 p.
Keyword [en]
Fc gamma receptor, SLE, polymorphisms, systemic-lupus-erythematosus, polymerase-chain-reaction, linkage analysis, genetic-linkage, receptor-ii, polymorphism, disease, association, binding, frequencies
National Category
Medical and Health Sciences Biological Sciences
URN: urn:nbn:se:kth:diva-23220DOI: 10.1038/sj.gene.6364052ISI: 000189363200007PubMedID: 14737097ScopusID: 2-s2.0-3242773701OAI: diva2:341918
QC 20100525 QC 20111101Available from: 2010-08-10 Created: 2010-08-10 Last updated: 2011-11-01Bibliographically approved

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