RGD Reference Report - High polymorphism of the MBL2 gene in patients with atopic dermatitis. - Rat Genome Database

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High polymorphism of the MBL2 gene in patients with atopic dermatitis.

Authors: Carrera, MC  Moura, P  Crovella, S  De Souza, PR  De Alencar, LC  Sarinho, E 
Citation: Carrera MC, etal., Ann Allergy Asthma Immunol. 2010 Jul;105(1):39-42. doi: 10.1016/j.anai.2010.03.017.
RGD ID: 8693720
Pubmed: PMID:20642202   (View Abstract at PubMed)
DOI: DOI:10.1016/j.anai.2010.03.017   (Journal Full-text)

BACKGROUND: Low serum levels of mannose-binding lectin (MBL) are determined mainly by variant alleles of the MBL2 gene and it has been suggested that MBL may play a role in the susceptibility to atopic dermatitis (AD). OBJECTIVE: The aim was to investigate the difference of the frequency of MBL2 variant alleles in AD patients and in a group of individuals without AD, and associate the MBL2 alleles with AD severity. METHODS: MBL2 variant allele's frequency was investigated in 131 children with AD and 165 healthy children/adolescents matched by convenience. The severity of disease was graded according to the SCORing Atopic Dermatitis (SCORAD) index. The first exon variants were called "O" and the wild type "A". The variants in the promoter were H/L at -550 and X/Y at -221, determined by Real Time PCR. RESULTS: Children with AD had higher frequency of allele O and the genotypes related to low or deficient levels of MBL, when compared to the healthy group (p = 0.0012 and p < 0.001, respectively), but not with AD severity. CONCLUSION: Low or deficient MBL serum levels determined genetically may contribute to the predisposition for AD, but not for disease severity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
atopic dermatitis susceptibilityIAGP 8693720DNA:polymorphisms:promoter and exon:RGD 
atopic dermatitis susceptibilityISOMBL2 (Homo sapiens)8693720; 8693720DNA:polymorphisms:promoter and exon:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mbl2  (mannose binding lectin 2)

Genes (Mus musculus)
Mbl2  (mannose-binding lectin (protein C) 2)

Genes (Homo sapiens)
MBL2  (mannose binding lectin 2)


Additional Information