Gastric cancer (GC) is the 5th most prevalent cancer. The etiology of GC is still poorly understood. We performed a case-control study in a Chinese population to investigate the association of rs2243248 (-1098 G/T), rs2227284 (-33 C/T), rs2243250 (-589 T/C) and rs2070874 (-107 T/C) polymorphisms and haplotypes with the development of gastric cancer in a Chinese population. A total of 362 patients with gastric cancer and 384 controls were recruited between December 2013 and December 2015. Genotyping of rs2243248 (-1098 G/T), rs2227284 (-33 C/T), rs2243250 (-589 T/C) and rs2070874 (-107 T/C) was performed in a 384-well plate format on the sequenom MassARRAY platform, and analyzed by MALDI-TOF MS. The TC and CC genotypes of rs2243250 (-589 T/C) were associated with an increased risk of gastric cancer when compared with the TT genotype, with adjusted ORs (95% CI) of 1.52 (1.07-2.15) and 2.13 (1.30-3.51), respectively. The TTTT haplotype revealed a reduced risk of gastric cancer (OR=0.65, 95% CI=0.45-0.94). No linkage disequilibrium was found among IL-4 rs2243248, rs2227284, rs2243250 and rs2070874. In summary, our findings support a significant association of IL-4 rs2243250 polymorphism with the risk of gastric cancer in the Chinese population, and IL-4 haplotype contributes to the development of this disease.
Keywords: IL-4; gastric cancer; haplotype; polymorphism.