The associations between MDM4 rs4245739 A>C polymorphism and cancer risk: a meta-analysis

Recent studies have reported that the single nucleotide polymorphism (SNP) rs4245739 in MDM4 is associated with cancer risk. However, published studies have shown inconsistent results. Therefore, an up to date meta-analysis was performed to investigate the association between rs4245739 and cancer risk in the literature. 10 relevant studies involving 19,915 cases and 61,135 controls were included in this meta-analysis. We observed that rs4245739 was significantly associated with a decreased cancer risk in genetic models (AC vs. AA: OR = 0.85, 95% CI = 0.75-0.96; AC+CC vs. AA: OR = 0.84, 95% CI = 0.74-0.95); C vs. A: OR = 0.86, 95% CI = 0.78-0.96). Moreover, in the subgroup analysis by ethnicity, MDM4 rs4245739 polymorphism was significantly associated with cancer isk in the Asian population. Additionally, an increased ESCC (Esophageal Squamous Cell Carcinoma) risk was found in the recessive and homozygous genetic models after stratification of cancer types. In conclusion, these meta-analysis results suggest that MDM4 rs4245739 polymorphism was associated with a significantly decreased risk of cancer, especially in Asian populations. However, a trend of increased risk of cancer was observed in ESCC.