Ann Dermatol.  2017 Oct;29(5):571-577. 10.5021/ad.2017.29.5.571.

Association of Single-Nucleotide Polymorphisms of the MBL2 with Atopic Dermatitis in Korean Patients

Affiliations
  • 1Department of Dermatology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Uijeongbu, Korea. jwkim52@catholic.ac.kr

Abstract

BACKGROUND
Human mannose-binding lectin (MBL) is a serum lectin taking part in the innate immunity by opsonizing various microorganisms for phagocytosis. The MBL serum concentration is affected by several single-nucleotide polymorphisms (SNPs) in the promoter region of the MBL2 gene.
OBJECTIVE
The purpose of this study was to examine the relationship between MBL2 polymorphisms and atopic dermatitis (AD) susceptibility.
METHODS
To examine whether the MBL2 SNPs are related to AD susceptibility, we examined 237 patients with AD and 94 controls by polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-sequence specific primer analyses of four polymorphic loci: two (H/L and X/Y) within the promoter region and the other two (P/Q and A/B) within exon 1. MBL concentrations in the blood were estimated by ELISA.
RESULTS
The prevalence of haplotype HYPB, leading to MBL deficiency, was significantly decreased in the AD patients compared to the controls (p=0.002), while the prevalence of haplotype HYPA was increased with a clear trend toward significance (p=0.056). The frequency of MBL2 LYPB/LXPA (odds ratio, 0.08; 95% confidence interval, 0.009~0.655; p=0.021) were significantly decreased in the AD patients. The blood log [total immunoglobulin E, IgE] levels of MBL2 HYPA/HYPA, HYPA/LYPA, HYPA/LYPB, HYPA/LYQA, and LYQA/LXPA haplotype pairs were significantly increased in the AD patients.
CONCLUSION
The frequency of MBL2 HYPB haplotype was significantly decreased in the AD patients compared to the controls. The frequency of LYPB/LXPA had a possibly protective effect on AD. Moreover, the MBL2 HYPA haplotype pairs, which were related to higher blood total IgE levels, were possibly associated with extrinsic AD.

Keyword

Atopic dermatitis; Innate immunity; Mannose-binding lectin

MeSH Terms

Dermatitis, Atopic*
Enzyme-Linked Immunosorbent Assay
Exons
Haplotypes
Humans
Immunity, Innate
Immunoglobulin E
Immunoglobulins
Mannose-Binding Lectin
Phagocytosis
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Prevalence
Promoter Regions, Genetic
Immunoglobulin E
Immunoglobulins
Mannose-Binding Lectin

Figure

  • Fig. 1 Gene map, haplotypes and linkage disequilibrium (LD) coefficients in MBL. (A) Gene map and single-nucleotide polymorphisms (SNPs) in MBL located on chromosome 10q11.2-q21. Polymorphic sites within the promoter region and exon-1 are marked by a gray block. Pairwise measures of linkage disequilibrium for the 4 polymorphisms are shown. (B) Haplotypes of MBL. Haplotypes with frequency >0.02 are presented. (C) LD coefficient (|D′|) among MBL SNP.


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