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A Novel Single Nucleotide Polymorphism in XRCC4 Gene is Associated with Gastric Cancer Susceptibility in Taiwan

¹ Department of Hematology Oncology, China Medical University Hospital, Taichung, Taiwan, ROC
² Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, ROC
³ Medical College, China Medical University, Taichung, Taiwan, ROC
⁴ Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan, ROC
⁵ Department of Family Medicine, China Medical University Hospital, Taichung, Taiwan, ROC
⁶ Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan, ROC

Correspondence: Address correspondence and reprint requests to: Da-Tian Bau, PhD; E-mail: datian{at}www.cmuh.org.tw

Background: The DNA repair gene XRCC4, an important caretaker of the overall genome stability, is thought to play a major role in the human carcinogenesis. We investigate some novel and important polymorphic variants of XRCC4, at codon 247 (rs3734091), G-1394T (rs6869366), intron 3 (rs28360071), and intron 7 (rs28360317), of their associated with gastric cancer susceptibility.

Materials and Methods: In this hospital-based case-control study, the association of XRCC4 polymorphisms with gastric cancer risk in a Taiwanese population was investigated. In total, 121 patients with gastric cancer and 121 age-matched healthy controls recruited were genotyped investigating these polymorphisms’ association with gastric cancer susceptibility.

Results: We found a significant difference in the frequency of the XRCC4 G-1394T genotype, but not others, between the gastric cancer and control groups. Those who had G/T or G/ G at XRCC4 G-1394T showed a 3.79-fold (95% confidence interval = 1.47–9.82) increased risk of gastric cancer compared to those with T/T. As for XRCC4 codon 247, intron 3, or intron 7, there was no difference in distribution between the gastric cancer and control groups.

Conclusions: Our findings suggest that the G allele of the XRCC4 G-1394T may contribute to gastric carcinogenesis and may be useful for gastric cancer early detection and prevention.

Key Words: XRCC4 • Polymorphism • Gastric cancer • Carcinogenesis