HNF1B polymorphisms and endometrial cancer risk: validation of identified loci and evaluation of novel variants

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. 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. The study confirmed that rs4430796 (A>G) reduced endometrial cancer risk (OR = 0.83, 95% CI: 0.70–0.99, p = 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, p = 0.025) and nonsmokers (OR = 0.42, 95% CI: 0.23–0.75, p = 0.004), and rs11651755 in drinkers (OR = 0.39, 95% CI: 0.17–0.90, p = 0.027) and nonsmokers (OR = 0.43, 95% CI: 0.23–0.81, p = 0.009). The SNP rs4430796 was also associated with the CA125 level (p 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.