特应性皮炎患者 MBL2 基因的高度多态性。

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

机构信息

Department of Dermatology, Instituto Materno Infantil de Pernambuco, Recife, Brazil.

出版信息

Ann Allergy Asthma Immunol. 2010 Jul;105(1):39-42. doi: 10.1016/j.anai.2010.03.017.

DOI:10.1016/j.anai.2010.03.017

PMID:20642202

Abstract

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.

摘要

背景

甘露聚糖结合凝集素（MBL）的血清水平较低主要由 MBL2 基因的变异等位基因决定，有人提出 MBL 可能在特应性皮炎（AD）易感性中发挥作用。

目的

旨在研究 AD 患者和一组无 AD 的个体中 MBL2 变异等位基因的频率差异，并将 MBL2 等位基因与 AD 严重程度相关联。

方法

通过方便抽样，对 131 例 AD 患儿和 165 例健康儿童/青少年进行 MBL2 变异等位基因频率的调查。根据 SCORing 特应性皮炎（SCORAD）指数对疾病严重程度进行分级。第一个外显子的变体称为“O”，野生型为“A”。启动子的变体为-550 的 H/L 和-221 的 X/Y，通过实时 PCR 确定。