Dipartimento di Istologia, Embriologia e Biologia Applicata, Università di Bologna, Via Belmeloro 8, 40126 Bologna, Italy.
Mol Biol Rep. 2011 Oct;38(7):4613-7. doi: 10.1007/s11033-010-0594-0. Epub 2010 Dec 4.
In idiopathic pulmonary fibrosis (IPF) patients the presence of missense polymorphisms (SNP) in members of the epidermal growth factor receptor (EGFR) family or their genetic association could influence the binding affinity of natural ligands, modifying the expression and the behavior of the correlated genes. EGFR family members are particularly involved in the epithelial injury and fibrotic process in IPF. Genetic variations in HER family of receptors may alter the possible therapeutic efficacy of EGFR inhibitors. This study aimed to analyze the relationships between IPF and specific EGF receptor family functional polymorphisms. We tested the presence of common EGFR, HER2 and HER3 non-synonymous SNPs in the peripheral blood of 20 Italian IPF patients and their association with the disease. Our data indicated that the HER2 variant allele frequency was significantly lower in patients than in controls, with an odds ratio of 0.31 (95% CI 0.080, 0.98). Our finding suggests that HER2 variant could be a protective factor against IPF onset.
在特发性肺纤维化 (IPF) 患者中，表皮生长因子受体 (EGFR) 家族成员的错义多态性 (SNP) 的存在或其遗传相关性可能会影响天然配体的结合亲和力，从而改变相关基因的表达和行为。EGFR 家族成员特别参与 IPF 中的上皮损伤和纤维化过程。HER 家族受体的遗传变异可能会改变 EGFR 抑制剂的可能治疗效果。本研究旨在分析 IPF 与特定 EGFR 家族功能多态性之间的关系。我们检测了 20 名意大利 IPF 患者外周血中常见的 EGFR、HER2 和 HER3 非同义 SNP 的存在及其与疾病的相关性。我们的数据表明，HER2 变异等位基因频率在患者中明显低于对照组，比值比为 0.31(95%CI0.080,0.98)。我们的发现表明，HER2 变异可能是 IPF 发病的保护因素。
