Rigoli L, Caminiti L, Di Bella C, Procopio V, Cuppari C, Vita D, Barberio G, Salpietro C, Pajno G B
Department of Paediatrics, School of Medicine, University of Messina, Italy.
Clin Exp Dermatol. 2008 May;33(3):316-21. doi: 10.1111/j.1365-2230.2007.02672.x. Epub 2008 Feb 28.
Eotaxin plays an important role in atopic dermatitis (AD) as a potent chemoattractant and activator of eosinophils and T-helper 2 lymphocytes.
To investigate whether single-nucleotide polymorphisms of the eotaxin gene are associated with AD, we investigated the genotype and allelic frequencies of -426C-->T, -384A-->G, and 67G-->A SNPs in 130 Italian families.
In total, 130 children with either the extrinsic allergic or intrinsic nonallergic forms of AD (EAD and IAD) were recruited from 130 families. Genotyping was performed using PCR and restriction fragment length polymorphism analysis.
A significant difference was observed in the genotype frequency of the -426C-->T SNP between children with EAD and those with IAD (P = 0.01), and between children with EAD and controls (P = 0.01). The allele frequencies of the -426C-->T SNP were significantly different between children with EAD and those with IAD (P < 0.01), and between children with EAD and controls (P < 0.01). For children with EAD, the genotype frequency of the -426C-->T SNP was no different between the groups with mild, moderate and severe SCORAD (P = NS). No significant association was observed between the -384A-->G and 67G-->A SNPs and the two groups of children with EAD and IAD compared with the control group. In 32 trios selected from 68 EAD families, the transmission disequilibrium test showed a preferential transmission of the -426T allele from the parents to affected offspring (P < 0.01).
Our results suggest that in our group of children with AD, the eotaxin gene may play a crucial role in the development of extrinsic AD, probably with other genetic factors.
嗜酸性粒细胞趋化因子作为一种有效的嗜酸性粒细胞和辅助性T2淋巴细胞化学引诱剂及激活剂，在特应性皮炎（AD）中发挥重要作用。
为研究嗜酸性粒细胞趋化因子基因单核苷酸多态性是否与AD相关，我们调查了130个意大利家庭中-426C→T、-384A→G和67G→A单核苷酸多态性的基因型及等位基因频率。
从130个家庭中总共招募了130名患有外源性过敏性或内源性非过敏性AD（EAD和IAD）的儿童。采用聚合酶链反应和限制性片段长度多态性分析进行基因分型。
在EAD患儿与IAD患儿之间（P = 0.01）以及EAD患儿与对照组之间（P = 0.01），观察到-426C→T单核苷酸多态性的基因型频率存在显著差异。EAD患儿与IAD患儿之间（P < 0.01）以及EAD患儿与对照组之间（P < 0.01），-426C→T单核苷酸多态性的等位基因频率存在显著差异。对于EAD患儿，-426C→T单核苷酸多态性的基因型频率在轻度、中度和重度SCORAD组之间无差异（P = 无显著性差异）。与对照组相比，未观察到-384A→G和67G→A单核苷酸多态性与两组EAD和IAD患儿之间存在显著关联。在从68个EAD家庭中选取的32个三联体中，传递不平衡检验显示-426T等位基因从父母向患病后代的传递具有偏好性（P < 0.01）。
我们的结果表明，在我们的AD患儿群体中，嗜酸性粒细胞趋化因子基因可能在外源性AD的发生发展中起关键作用，可能与其他遗传因素共同作用。
