A functional polymorphism in the poly(ADP-ribose) polymerase-1 gene increases the risk of endometrial carcinoma.

The aim of this study was to investigate the effects of two functional genetic polymorphisms in the poly(ADP-ribose) polymerase-1 () gene on the risk of endometrial carcinoma (EC). Genotypes of the rs1136410 and rs8679 polymorphisms were determined by polymerase chain reaction and ligase detection reaction in 327 EC patients and 329 controls. The results showed that there were significant differences in the genotype distributions of rs1136410 between cases and controls. Women carrying the rs1136410 CC genotype had a significantly increased risk of EC compared to those with the rs1136410 TT genotype (OR = 1.73, 95% CI = 1.10-2.72,  = .018). After adjustment for clinical characteristics, the rs1136410 CC genotype still significantly increased the risk of EC (adjusted OR = 1.83, 95% CI = 1.09-3.07,  = .021). However, no significant difference was observed in the genotype frequencies of rs8679 between cases and controls. This study indicated that rs1136410 was related to the risk of developing EC, and the CC genotype of rs1136410 may be a risk factor for EC in the northern Chinese population.IMPACT STATEMENT Genetic variations in the gene may affect protein function and hence reduce DNA repair capacity, leading to the accumulation of DNA damage and a subsequent increased probability of tumorigenesis. Previous studies have shown that polymorphisms of the gene are associated with the risk of various carcinomas, including breast cancer, lung cancer, thyroid cancer, colorectal cancer, and oral squamous cell carcinoma. Our results suggest that the rs1136410 polymorphism of was related to the risk of developing endometrial carcinoma, and the CC genotype of rs1136410 may be a risk factor for endometrial carcinoma in the northern Chinese population. The new genetic marker may help to identify genetic basis of endometrial carcinoma, and develop gene-targeted therapies for endometrial carcinoma.