Mannose binding lectin (MBL) genotype distributions with relation to serum levels in UK Caucasoids.
Mannose binding lectin (MBL) gene and promoter-region polymorphisms contribute to a reduction in the levels of circulating MBL in a number of ways. Promoter polymorphisms affect the levels of MBL produced, whilst structurally encoding mutations cause non-functional protein to be assembled and subsequently degraded. MBL is important as a protein of the innate immune system in both the clearance of potential pathogens and the activation of the complement cascade. Using variations of SSP-PCR amplifications and SSO probing techniques, we have produced MBL-polymorphism haplotype and genotype profiles of a series of high-level MBL-producing, low-level MBL-producing and random individuals taken from a population of 800 UK Caucasoid controls. Structurally encoding mutant alleles were more frequent within the low-level producing cohort when compared to both high-level producers and the randomly selected sample. However, not all low-level producers could be accounted for by the possession of low-level encoding haplotypes. This may be due to the presence of additional, undetected polymorphisms governing MBL production, or another external factor that may influence the transcriptional regulation of the gene.
Crosdale
D J
DJ
School of Epidemiology and Health Sciences, University of Manchester, UK.
Ollier
W E
WE
Thomson
W
W
Dyer
P A
PA
Jensenious
J
J
Johnson
R W
RW
Poulton
K V
KV
D000483:Alleles; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics*; D037222:Collectins; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015345:Oligonucleotide Probes / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D006113:United Kingdom / Q000453:epidemiology; D044465:White People / Q000235:genetics
D002352:Carrier Proteins; D037222:Collectins; D015345:Oligonucleotide Probes