Genetic factors associated with dyslipidemia, T2DM and DKD: a cross-sectional study on FXR gene polymorphisms

Aim: Genetic factors play a critical role in the development and progression of type 2 diabetes (T2DM) and diabetic kidney disease (DKD). Recent studies have reported associations between single nucleotide polymorphisms (SNPs) in the farnesoid X receptor (FXR) gene and the risk of T2DM and DKD. Dyslipidemia is increasingly recognized as a risk factor for DKD in patients with T2DM. This study aimed to investigate the potential genetic contribution of FXR gene SNPs rs11110390 and rs4764980 to susceptibility to T2DM and DKD in a Chinese population. Methods: This cross-sectional study included 168 patients with dyslipidemia and diabetes, comprising 90 T2DM patients and 78 DKD patients, along with 159 healthy controls. Genotyping of FXR SNPs rs11110390 and rs4764980 was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Associations between FXR polymorphisms and disease risk were evaluated using odds ratios (ORs) and 95% confidence intervals (CIs). Results: Regression analysis revealed that neither the genotypes nor the alleles of FXR rs11110390 and rs4764980 were significantly associated with T2DM risk. In contrast, the rs4764980 GA genotype was significantly associated with an increased risk of DKD (OR = 2.985; 95%CI = 1.412-6.312; P = 0.004). Conclusion: The FXR rs4764980 GA genotype may confer increased susceptibility to DKD in the Chinese population. However, no significant associations were observed between rs11110390 or rs4764980 and T2DM risk or overall DKD risk.