High polymorphism of the MBL2 gene in patients with atopic dermatitis
High polymorphism of the MBL2 gene in patients with atopic dermatitis
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DOI：
10.1016/j.anai.2010.03.017
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发表时间：
2010-07-01
影响因子：
5.9
通讯作者：
Sarinho, Emanuel
中科院分区：
文献类型：
--
作者：
Carrera, Matilde Campos;Moura, Patricia;Sarinho, Emanuel
背景资料：甘露糖结合凝集素（MBL）2基因的多态性是导致血清MBL水平降低的主要原因，MBL 2基因多态性可能与特应性皮炎（AD）的易感性有关。目的：探讨MBL 2基因多态性在AD患者和非AD患者中的分布差异，以及MBL 2基因多态性与AD严重程度的关系。对131例AD患儿和165例健康儿童/青少年进行MBL 2等位基因频率调查。根据特应性皮炎评分（SCORAD）指数对疾病的严重程度进行分级。第一外显子变体被称为“O”，野生型被称为“A”。真实的时间PCR检测结果显示，AD儿童启动子区-550的H/L和-221的X/Y变异。结果：AD儿童O等位基因频率和MBL水平降低或缺乏的基因型频率高于健康儿童结论：MBL血清水平低或缺乏可能与AD易感性有关，但与疾病严重程度无关。安过敏性哮喘免疫学2010; 105：39-42。
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. Ann Allergy Asthma Immunol. 2010; 105: 39-42.