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- Title
Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection.
- Authors
Bernig, T.; Taylor, J.G.; Foster, C.B.; Staats, B.; Yeager, M.; Chanock, S.J.
- Abstract
Human mannose-binding protein (MBL) is a component of innate immunity. To capture the common genetic variants of MBL2, we resequenced a 10.0?kb region that includes MBL2 in 102 individuals representing four major US ethnic groups. In all, 87 polymorphic sites were observed, indicating a high level of heterozygosity (total p=18.3×10-4). Estimates of linkage disequilibrium across MBL2 indicate that it is divided into two blocks, with a probable recombination hot spot in the 3'end. Three non-synonymous SNPs in exon 1 of the encoding MBL2 gene and three upstream SNPs form common‘secretor haplotypes’that can predict circulating levels. Common variants have been associated with increased susceptibility to infection and autoimmune diseases. The high frequencies of B, C and D alleles in certain populations suggest a possible selective advantage for heterozygosity. There is limited diversity of haplotype structure; the‘secretor haplotypes’lie on a restricted number of extended haplotypes, which could include additional linked SNPs, which might also have possible functional implications. There is evidence for gene conversion in the region between the two blocks, in the last exon. Our data should form the basis for conducting MBL2 candidate gene association studies using a locus-wide approach.Genes and Immunity (2004) 5, 461-476. doi:10.1038/sj.gene.6364116 Published online 12 August 2004
- Subjects
MANNOSE; LECTINS; IMMUNOGLOBULINS; IMMUNITY; EXONS (Genetics); SPLIT genes
- Publication
Genes & Immunity, 2004, Vol 5, Issue 6, p461
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/sj.gene.6364116