polymorphisms and endometrial cancer risk: validation of identified loci and evaluation of novel variants.

Background: This study aimed to validate HNF1B single nucleotide polymorphisms (SNPs) associated with endometrial cancer risk in a Chinese Han population and explore novel SNPs. Our findings enhance the understanding of genetic components and are crucial for detection strategies and personalized medicine.

Methods: We genotyped four HNF1B SNPs in 637 patients and 667 controls using Agena MassARRAY. Logistic regression calculated odds ratios (ORs) and 95% CI. Forest plots visualize stratified analyses. Multiple comparisons tested genetic loci-clinical indicator associations.

Results: The study confirmed that rs4430796 (A>G) reduced endometrial cancer risk (OR = 0.83, 95% CI: 0.70-0.99,  = 0.041). Additionally, novel HNF1B mutations were associated with endometrial cancer risk: rs7405776 in individuals under the age of 55 (OR = 047, 95% CI: 0.25-0.91,  = 0.025) and nonsmokers (OR = 0.42, 95% CI: 0.23-0.75,  = 0.004), and rs11651755 in drinkers (OR = 0.39, 95% CI: 0.17-0.90,  = 0.027) and nonsmokers (OR = 0.43, 95% CI: 0.23-0.81,  = 0.009). The SNP rs4430796 was also associated with the CA125 level ( < 0.05).

Conclusion: HNF1B polymorphisms influence endometrial cancer risk in the Chinese Han population. Further studies are needed to explore the functional roles and clinical practicality of these SNPs.