A missense mutation (S3660L) in MLL3 gene influences risk of gastric cancer

作者：Li, Bing; Liu, Hong-Yi; Guo, Shao-Hua; Sun, Peng; Gong, Fang-Ming; Jia, Bao-Qing^*

来源：Journal of Buon, 2014, 19(2): 394-397.

• gastric cancer
• genetic variants
• missense mutation
• MLL3

Purpose: Several studies indicated that the expression level of MLL3 gene in gastric cancer tissue was associated with prognosis, and previous studies also suggested that genetic polymorphisms of MLL3 were related to the risk for gastric cancer. The present study aimed to investigate the association of a missense mutation (S3660L) in the MLL3 gene with gastric cancer risk in a Chinese population.
Methods: In the present study, we identified a novel missense mutation in MLL3 gene (S3660L) by directly sequencing method in 48 gastric cancer patients. To further explore the relation between gastric cancer and this mutation, we selected 354 gastric cancer patients and 377 healthy control subjects and designed a case-control study.
Results: We found that the AG genotype (14.9 vs 6.40%, odds ratio/OR=2.58, 95% CI: 1.33-4.54, p<0.001) and A allele (7.5 vs 3.2%, OR=2.46, 95% CI: 1.55-5.34, p<0.001) were common in the gastric cancer patients than in the control subjects.
Conclusion: We concluded that this novel missense (S3660L) mutation in MLL3 gene is likely to increase the gastric cancer risk.

• 出版日期2014-6
• 单位中国人民解放军总医院