title: Characterization of mannose-binding lectin (MBL) variants by allele-specific sequencing of MBL2 and determination of serum MBL protein levels.
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.
authors.affiliation: Department of Transplantation Immunology, Institute of Immunology, University of Heidelberg, Heidelberg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Adamek
authors.forename: J
authors.initials: J
authors.lastname: Heyder
authors.forename: A
authors.initials: A
authors.lastname: Heinold
authors.forename: G
authors.initials: G
authors.lastname: Fiedler
authors.forename: G
authors.initials: G
authors.lastname: Opelz
authors.forename: T H
authors.initials: TH
authors.lastname: Tran
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D037582:Complement Pathway, Mannose-Binding Lectin / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D005858:Germany; D006801:Humans; D007239:Infections / Q000235:genetics / Q000276:immunology*; D015810:Linkage Disequilibrium; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin
keywords: MBL2; haplotypes; mannose‐binding lectin; sequencing