Genetic studies for the drug-induced interstitial lung disease and the acute exacerbation of idiopathic pulmonary fibrosis

本研究的目的是确定药物诱导的间质性肺疾病和特发性肺纤维化急性加重的遗传因素(S)。通过对18例吉非替尼诱导的间质性肺疾病患者的DNA进行外显子序列分析，我们发现了两个具有日本特有的改变的基因。这两个基因位于酪氨酸激酶的信号转导通路中，可能与疾病的发病有关。我们目前正在对这些基因改变进行功能分析。

The aim of the current study is to identify the genetic factor(s) involved in the drug-induced interstitial lung disease and the acute exacerbation of idiopathic pulmonary fibrosis.Using the exome sequencing analysis performed on DNA from 18 patient with gefitinib-induced interstitial lung disease, we have identified 2 genes that bear alterations that are specific to Japanese. These 2 genes are located in the signal transduction pathway of tyrosine kinases, and may be responsible to the etiology of the disease. We are currently performing the functional analyses of these genetic alterations.