The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females

Junhong Cai; Siyuan Peng; Haibo Wang; Shan Bao

doi:10.2147/PGPM.S345772

The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females

Pharmgenomics Pers Med. 2022 Apr 7:15:311-325. doi: 10.2147/PGPM.S345772. eCollection 2022.

Authors

Junhong Cai¹, Siyuan Peng², Haibo Wang², Shan Bao²

Affiliations

¹ Medical Laboratory Center, Hainan General Hospital/Hainan Affiliated Hospital of Hainan Medical University, Haikou, Hainan, 570311, People's Republic of China.
² Department of Gynaecology and Obstetrics, Hainan General Hospital/Hainan Affiliated Hospital of Hainan Medical University, Haikou, Hainan, 570311, People's Republic of China.

Abstract

Background: Endometrial carcinoma (EC) is one of the most common malignant gynecological malignancies. BCL11A gene may have a tumor-suppressor role in EC. Until now, no studies have reported the effect of BCL11A variants on EC predisposition in Chinese population.

Methods: Six BCL11A polymorphisms were genotyped using Agena MassARRAY system among 509 EC patients and 506 matched healthy women. Risk assessment of the BCL11A polymorphisms for EC risk was performed by calculating odds ratios (OR) with 95% confidence intervals (CI) through logistic regression models.

Results: We found that rs7581162 (OR = 1.29, p = 0.012), rs10189857 (OR = 1.26, p = 0.028), rs1427407 (OR = 1.30, p = 0.015), rs766432 (OR = 1.27, p = 0.025), and rs6729815 (OR = 1.32, p = 0.008) in BCL11A were associated with higher susceptibility to EC in Chinese Han women. Age and BMI stratified analysis displayed that the risk association between BCL11A variants and EC predisposition might be age- and BMI-dependent. Haplotype analysis revealed that A_rs10189857T_rs1427407 and G_rs10189857G_rs1427407 haplotypes were related to an increased risk of EC. MDR analysis indicated that rs1427407 was the most influential attributor on EC risk in the single-locus model, and the best combination was the two-locus model containing rs7581162 and rs766432.

Conclusion: Our study provided the first evidence that rs7581162, rs10189857, rs1427407, rs766432, and rs6729815 in BCL11A were risk factors for EC in Chinese Han women. These findings add our understanding of the role of BCL11A gene in EC pathogenesis.

Keywords: BCL11A variants; MDR analysis; endometrial carcinoma; haplotype analysis; susceptibility.

Grants and funding

This study was funded by Hainan Province Science and Technology Special Fund (ZDYF2019123 and ZDYF2020131) and Hainan Province Clinical Medical Center.