Parwez Qumar, Stemmler Susanne, Epplen Jörg T, Hoffjan Sabine
Department of Human Genetics, Ruhr-University, Bochum, Germany.
J Negat Results Biomed. 2008 Nov 13;7:9. doi: 10.1186/1477-5751-7-9.
Atopic dermatitis (AD) is believed to result from complex interactions between genetic and environmental factors. A main feature of AD as well as other allergic disorders is serum and tissue eosinophilia. Human eosinophils contain high amounts of cationic granule proteins, including eosinophil cationic protein (ECP), eosinophil-derived neurotoxin (EDN), eosinophil peroxidase (EPO) and major basic protein (MBP). Recently, variation in genes encoding eosinophil granule proteins has been suggested to play a role in the pathogenesis of allergic disorders. We therefore genotyped selected single nucleotide polymorphisms within the ECP, EDN, EPO and MBP genes in a cohort of 361 German AD patients and 325 healthy controls.
Genotype and allele frequencies did not differ between patients and controls for all polymorphisms investigated in this study. Haplotype analysis did not reveal any additional information.
We did not find evidence to support an influence of variation in genes encoding eosinophil granule proteins for AD pathogenesis in this German cohort.
特应性皮炎(AD)被认为是由遗传和环境因素之间的复杂相互作用所致。AD以及其他过敏性疾病的一个主要特征是血清和组织嗜酸性粒细胞增多。人类嗜酸性粒细胞含有大量阳离子颗粒蛋白,包括嗜酸性粒细胞阳离子蛋白(ECP)、嗜酸性粒细胞衍生神经毒素(EDN)、嗜酸性粒细胞过氧化物酶(EPO)和主要碱性蛋白(MBP)。最近,有研究表明编码嗜酸性粒细胞颗粒蛋白的基因变异在过敏性疾病的发病机制中起作用。因此,我们对361名德国AD患者和325名健康对照组成的队列中的ECP、EDN、EPO和MBP基因内选定的单核苷酸多态性进行了基因分型。
本研究中所调查的所有多态性的基因型和等位基因频率在患者和对照之间没有差异。单倍型分析未发现任何其他信息。
在这个德国队列中,我们没有发现证据支持编码嗜酸性粒细胞颗粒蛋白的基因变异对AD发病机制有影响。