Supplementary Material for: PIK3R3 missense and NOTCH2 synonymous single nucleotide polymorphisms are associated with liver cancer

Background: Single nucleotide polymorphism (SNP) of candidate genes also affects the occurrence and prognosis of liver cancer. We mainly explored the effects of PIK3R3 and NOTCH2 polymorphisms on liver cancer risk among Chinese people. Methods: Four SNPs (rs785468, rs785467, rs3795666, and rs17024525 in PIK3R3 and NOTCH2) from 709 liver cancer patients and 700 healthy controls were genotyped using the Agena MassARRAY system. The correlation between SNPs and liver cancer risk was evaluated using logistic regression analysis. The SNP-SNP interactions were conducted by the multifactor dimensionality reduction (MDR) method. Results: The results revealed that PIK3R3-rs785467 reduced the likelihood of liver cancer among Chinese Han people (p < 0.05). In addition, PIK3R3-rs785467 decreased the susceptibility to liver cancer in different populations (females, non-smokers, and age > 55 years, p < 0.05). NOTCH2-rs3795666 reduced the susceptibility to liver cancer among males, drinkers, and patients aged ≥ 55 years (p < 0.05). Conclusions: Our results demonstrate that PIK3R3-rs785476 and NOTCH2-rs3795666 polymorphisms are responsible for decreasing the susceptibility of liver cancer development in the Chinese Han population.

背景：候选基因的单核苷酸多态性（Single nucleotide polymorphism, SNP）同样会影响肝癌的发生与预后。本研究主要探讨PIK3R3与NOTCH2基因多态性对中国人群肝癌发病风险的影响。
方法：本研究采用Agena MassARRAY基因分型系统，对709例肝癌患者与700例健康对照者的4个SNP位点（PIK3R3基因的rs785468、rs785467，NOTCH2基因的rs3795666、rs17024525）进行基因分型。采用logistic回归分析评估SNP与肝癌发病风险的相关性，并通过多因子降维法（multifactor dimensionality reduction, MDR）分析基因间的交互作用。
结果：研究结果显示，PIK3R3基因rs785467可降低中国汉族人群的肝癌发病风险（p < 0.05）。此外，在女性、非吸烟者及年龄＞55岁的亚群中，PIK3R3-rs785467同样可降低肝癌易感性（p < 0.05）。NOTCH2基因rs3795666可降低男性、饮酒者及年龄≥55岁患者的肝癌易感性（p < 0.05）。
结论：本研究结果表明，PIK3R3-rs785476与NOTCH2-rs3795666基因多态性可降低中国汉族人群的肝癌发病易感性。