Characterization of mannose-binding lectin (MBL) variants by allele-specific sequencing of MBL2 and determination of serum MBL protein levels

Authors

  • M. Adamek,

    1. Department of Transplantation Immunology, Institute of Immunology, University of Heidelberg, Heidelberg, Germany
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  • J. Heyder,

    1. Department of Transplantation Immunology, Institute of Immunology, University of Heidelberg, Heidelberg, Germany
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    • Present address: Institute of Legal Medicine, University of Munich, Munich, Germany

  • A. Heinold,

    1. Department of Transplantation Immunology, Institute of Immunology, University of Heidelberg, Heidelberg, Germany
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    • Present address: Institute for Transfusion Medicine, University Hospital Essen, Essen, Germany

  • G. Fiedler,

    1. Department of Transplantation Immunology, Institute of Immunology, University of Heidelberg, Heidelberg, Germany
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  • G. Opelz,

    1. Department of Transplantation Immunology, Institute of Immunology, University of Heidelberg, Heidelberg, Germany
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  • T. H. Tran

    Corresponding author
    1. Department of Transplantation Immunology, Institute of Immunology, University of Heidelberg, Heidelberg, Germany
    • Correspondence

      Thuong H. Tran, MD

      Department of Transplantation Immunology

      Institute of Immunology

      University of Heidelberg

      Im Neuenheimer Feld 305

      69120 Heidelberg

      Germany

      Tel: +49 6221 564005

      Fax: +49 6221 564200

      e-mail: hien.tran@med.uni-heidelberg.de

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Abstract

Mannose-binding lectin (MBL) is a major component of the lectin pathway of complement activation. High and low MBL levels have been associated with susceptibility and severity of a variety of infectious and autoimmune diseases. Several single-nucleotide polymorphisms (SNPs) in the promoter region and exon 1 of the MBL2 gene are responsible for variations in serum MBL levels. We developed a sequence-based typing method for allele-specific MBL2 genotyping and measured serum MBL protein levels in 24 German blood donors. We identified the common MBL2 haplotypes including five promoter polymorphisms in linkage with the Q allele and correlated serum MBL levels with the respective genotypes. The genotyping method presented here could provide a basis for confirmatory studies in larger cohorts.

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