Genetic Variations in CYP19A1 and SLCO1B1 Genes and Their Association with Endometrial Cancer Risk in the Taiwanese Population: A Case-Control Study.

Endometrial cancer is the most common gynecologic malignancy in developed countries, and its incidence is rising globally. Genetic predisposition plays a significant role in modulating risk, particularly in Asian populations. In Taiwan, the burden of endometrial cancer has increased, highlighting the need to gain a better understanding of the genetic loci associated with this disease. This retrospective case-control study included 373 endometrial cancer patients and 3730 controls from the Taiwan Precision Medicine Initiative. Genotype data were obtained using the TWB 2.0 SNP chip. Statistical analyses were conducted using PLINK and SPSS, with logistic regression models assessing the associations between genetic variants and endometrial cancer risk. In this study, we identified two SNPs, rs17601876 in CYP19A1 and rs2900478 in SLCO1B1, that were associated with endometrial cancer. The AG/GG genotypes of rs17601876 showed a protective effect (OR = 0.743, p = 0.006), while the TA/AA genotypes of rs2900478 exhibited a nonsignificant trend toward an increased risk. Higher BMI, LDL, triglyceride, total cholesterol, and HbA1c, as well as lower HDL, were strongly associated with greater risk. Our findings demonstrated a protective role of rs17601876 in CYP19A1 and further showed its potential impact on estrogen biosynthesis. Genetic factors involved in endometrial cancer risk are an important issue. Further functional studies are needed to validate the present findings.

373 Han Taiwanese ancestry cases, 3,730 Han Taiwanese ancestry controls