Inflammation-related genetic variants predict toxicity following definitive radiotherapy for lung cancer

Clin Pharmacol Ther. 2014 Nov;96(5):609-15. doi: 10.1038/clpt.2014.154. Epub 2014 Jul 23.

Abstract

Definitive radiotherapy improves locoregional control and survival in inoperable non-small cell lung cancer patients. However, radiation-induced toxicities (pneumonitis/esophagitis) are common dose-limiting inflammatory conditions. We therefore conducted a pathway-based analysis to identify inflammation-related single-nucleotide polymorphisms associated with radiation-induced pneumonitis or esophagitis. A total of 11,930 single-nucleotide polymorphisms were genotyped in 201 stage I-III non-small cell lung cancer patients treated with definitive radiotherapy. Validation was performed in an additional 220 non-small cell lung cancer cases. After validation, 19 single-nucleotide polymorphisms remained significant. A polygenic risk score was generated to summarize the effect from validated single-nucleotide polymorphisms. Significant improvements in discriminative ability were observed when the polygenic risk score was added into the clinical/epidemiological variable-based model. We then used 277 lymphoblastoid cell lines to assess radiation sensitivity and expression quantitative trait loci (eQTL) relationships of the identified single-nucleotide polymorphisms. Three genes (PRKCE, DDX58, and TNFSF7) were associated with radiation sensitivity. We concluded that inflammation-related genetic variants could contribute to the development of radiation-induced toxicities.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Carcinoma, Non-Small-Cell Lung / genetics
  • Carcinoma, Non-Small-Cell Lung / radiotherapy*
  • Female
  • Genetic Variation
  • Humans
  • Inflammation / complications*
  • Inflammation / genetics
  • Lung Neoplasms / genetics
  • Lung Neoplasms / radiotherapy*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Radiation Tolerance
  • Radiotherapy / adverse effects