Pharmacogenomics and Personalized Medicine (Apr 2022)
The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females
Abstract
Junhong Cai,1 Siyuan Peng,2 Haibo Wang,2 Shan Bao2 1Medical Laboratory Center, Hainan General Hospital/Hainan Affiliated Hospital of Hainan Medical University, Haikou, Hainan, 570311, People’s Republic of China; 2Department of Gynaecology and Obstetrics, Hainan General Hospital/Hainan Affiliated Hospital of Hainan Medical University, Haikou, Hainan, 570311, People’s Republic of ChinaCorrespondence: Shan Bao, Tel/Fax +86-0898-68642629, Email [email protected]: 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 Ars10189857Trs1427407 and Grs10189857Grs1427407 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: endometrial carcinoma, BCL11A variants, susceptibility, haplotype analysis, MDR analysis
