Impact of NOTCH1 polymorphisms on liver cancer in a Chinese Han population.

NOTCH1, a member of the Notch family, is up-expression in advanced liver cancer (LC) patients and is associated with tumor sizes, tumor stage, metastasis, and invasion. A few studies have discovered the contribution of NOTCH1 variants to LC risk. Our purpose was to assess the relationship of NOTCH1 rs10521, rs2229971, and rs4489420 to LC risk. We enrolled 709 LC patients and 708 healthy controls. Genotyping was determined through the Agena MassARRAY system. Multiple genetic models by logistic regression were useful for odds ratios (ORs) with 95% confidence intervals (CIs). Rs10521-G (p = 0.009, OR = 0.75, 95% CI: 0.61-0.93), rs2229971-A (p = 0.023, OR = 0.81, 95% CI: 0.67-0.97), and rs4489420-A (p = 0.014, OR = 0.38, 95% CI: 0.16-0.85) might be protective factors for LC occurrence in the Chinese Han population, especially rs10521 and rs2229971 (false-positive report probability (FPRP) <0.2 and statistical power >90%). Interestingly, stratified analysis displayed that the contribution of NOTCH1 polymorphisms to LC risk might be associated with gender, age, smoking, and drinking. Our data first determined that NOTCH1 rs10521-G, rs2229971-A, and rs4489420-A might be protective factors for LC susceptibility.

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 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.