title: Analysis of mannose-binding lectin 2 (MBL2) genotype and the serum protein levels in the Korean population.
abstract: Mannose-binding lectin (MBL) is a C-type lectin produced by the liver and involved in the innate immune response. We have analyzed six SNPs of MBL2 gene--three at promoter (-550, -435, and -221), one at 5'-untranslational region (UTR) (+4), and two at coding (Gly54Asp and Leu126Leu) regions--in the Korean population (N=129), and have correlated genotypes with the serum concentration and functional characteristics. Of those, the Asp54 allele (P<10(-15)), L allele at -550 (P<10(-7)), and P allele at +4 (P=0.012) were correlated with low MBL levels. The effect of the X allele at -221 on MBL levels in the Korean population appeared to be less profound than that of other populations. The highest MBL producing promoter haplotype in the Korean population was HYP, followed by LYQ and LYP, and then LXP. From functional analysis of MBL, low MBL levels were correlated with low mannan-binding, low C4 complement activation, and lack of high ordered oligomers. Our results support that the promoter and coding polymorphisms of MBL are correlated with its functional activity as well as circulating levels, and the association patterns are quite similar to those of other populations.
authors.affiliation: Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, South Korea.
authors.forename: Seong-Gene
authors.initials: SG
authors.lastname: Lee
authors.forename: Jung-Sun
authors.initials: JS
authors.lastname: Yum
authors.forename: Hong Mo
authors.initials: HM
authors.lastname: Moon
authors.forename: Hyun Jung
authors.initials: HJ
authors.lastname: Kim
authors.forename: Yun Joo
authors.initials: YJ
authors.lastname: Yang
authors.forename: Hie-Lim
authors.initials: HL
authors.lastname: Kim
authors.forename: Yongsook
authors.initials: Y
authors.lastname: Yoon
authors.forename: Sunyoung
authors.initials: S
authors.lastname: Lee
authors.forename: Kyuyoung
authors.initials: K
authors.lastname: Song
mesh_terms: D015153:Blotting, Western; D003181:Complement C4 / Q000378:metabolism; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007723:Korea; D008351:Mannans / Q000378:metabolism; D037601:Mannose-Binding Lectin / Q000031:analogs & derivatives* / Q000097:blood / Q000235:genetics* / Q000502:physiology; D020641:Polymorphism, Single Nucleotide; D044967:Serum / Q000378:metabolism
chemical_list: D003181:Complement C4; C445619:MBL2 protein, human; D008351:Mannans; D037601:Mannose-Binding Lectin