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

Abstract

The aim of this study was to investigate the effects of two functional genetic polymorphisms in the poly(ADP-ribose) polymerase-1 (PARP-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, p = .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, p = .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

• What is already known on this subject? Genetic variations in the PARP-1 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 PARP-1 gene are associated with the risk of various carcinomas, including breast cancer, lung cancer, thyroid cancer, colorectal cancer, and oral squamous cell carcinoma.

• What do the results of this study add? Our results suggest that the rs1136410 polymorphism of PARP-1 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.

• What are the implications of these findings for clinical practice and/or further research? The new genetic marker may help to identify genetic basis of endometrial carcinoma, and develop gene-targeted therapies for endometrial carcinoma.

Keywords:

• Endometrial carcinoma
• polymorphism
• PARP-1
• susceptibility
• risk

Acknowledgements

The authors would like to acknowledge the doctors in the Department of Obstetrics and Gynecology, the People’s Hospital of Shijiazhuang, Hebei Medical University, China, for their assistance in recruiting study subjects.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported by a grant from The Health and Family Planning Commission of Hebei Province, China [No. 20210163].