Korean J Asthma Allergy Clin Immunol.  2005 Mar;25(1):16-22.

Polymorphism of Codon 54 and Promoter of Mannose-binding Lectin Gene in Korean Atopic Dermatitis Patients

Abstract

BACKGROUND
Atopic dermatitis (AD) is an IgE mediated hypersensitivity reaction, generally considered to be caused by interaction of genetic and environmental factors. Human mannose-binding lectin (MBL) belongs to a group of carbohydrate-binding plasma proteins, the so-called collectins. Deficiency of MBL seems to be related to AD with or without recurring skin infections, and arises from three structural gene mutations in exon 1(the B, C and D alleles; the normal allele is A) and/or the presence of a low efficiency promoter. Point mutation at codon 54 of the MBL gene, located on the long arm of chromosome 10, provisionally called B allele, has been implicated as candidate susceptibility gene in AD.
OBJECTIVE
The aim of this study was to evaluate the relationship of this polymorphism with plasma MBL concentration, total and specific IgE in Korean AD patients. METHOD: We measured total IgE by Latex Photometry Immuno Assay, specific IgE for Dermatophagoides(D) pteronyssinus and D. farinae were measured by Radioallergosorbent test and plasma levels of MBL by enzyme- linked immunoabsorbent assay. We performed a polymerase chain reaction-restriction fragment length polymorphism method of the codon 54 and promoter-550 region and sequence specific primers for a polymerase chain reaction of promoter-221 region of MBL gene on genomic DNA from 243 Korean patients with AD and 99 non-AD controls. RESULT: AD patients had significantly higher frequency of the HYA and LYB haplotype [P<0.0001, odds ratio (or)= 1.5; odds ratio (or)=2.6] than the controls. The Polymorphism was not associated with the concentration of total and specific high in AD patients (P=0.03). CONCLUSION: Our results suggest that the codon 54 and promoter -550 and -221 regions of MBL gene polymorphism might be one of the genetic risk factors for AD in Korean.

MeSH Terms

Alleles
Arm
Blood Proteins
Chromosomes, Human, Pair 10
Codon*
Collectins
Dermatitis, Atopic*
DNA
Exons
Haplotypes
Humans
Hypersensitivity, Immediate
Immunoglobulin E
Latex
Mannose-Binding Lectin*
Odds Ratio
Photometry
Plasma
Point Mutation
Polymerase Chain Reaction
Radioallergosorbent Test
Risk Factors
Skin
Blood Proteins
Codon
Collectins
DNA
Immunoglobulin E
Latex
Mannose-Binding Lectin