Analysis of Single Nucleotide Polymorphisms of Liver X Receptor Alpha (LXR-α) Gene in Diabetic Kidney Disease

Abstract

Introduction Genetic factors significantly contribute to the progression of diabetic kidney disease (DKD), which is one of the world's most common causes of chronic kidney disease (CKD). Inflammation, glucose homeostasis, and lipid metabolism are all significantly influenced by the liver X receptor alpha (LXR-α) gene. Single nucleotide polymorphisms in the liver X receptor alpha gene may result in the altered function of the gene, making the individual susceptible to DKD. The purpose of this article is to examine the frequency of expression of single nucleotide polymorphisms (SNPs) in exon 7 of the LXR-α gene in people with type 2 diabetes (T2DM) and DKD. Gaining an understanding of these genetic differences could improve risk assessment and therapy approaches while providing fresh perspectives on the molecular mechanisms underlying DKD. Aims and objectives To identify specific SNPs in the LXR-α gene in T2DM and DKD patients. Methods The study was conducted between May 2022 and May 2023 and it involved 120 T2DM and 120 DKD patients. All the clinical history of the study participants were recorded. Blood samples were collected from the participants and genomic DNA was isolated and was followed by polymerase chain reaction (PCR) using exon 7 specified primers of LXR-α gene. To find mutations in the LXR-α gene, the PCR products were subsequently analyzed using the capillary-based Sanger sequencing technique. Results A total of seven SNPs were detected in T2DM patients, and 20 SNPs were detected in DKD patients. SNP rs7120118 was found with the highest frequency of 100 (83.33%) in T2DM patients and 80 (66.66%) in DKD patients. SNP rs1956299169 was found to have the second highest frequency of 60 (50%) among T2DM patients and SNP rs1252683195 was found to have a frequency of 20 (16.7%). Other common SNPs were rs1956299169, with 40 (33.33%) in DKD and 60 (50%) in T2DM, and rs12574081, with 20 (16.71%) in T2DM and 10 (8.33%) in T2DM. Conclusion The study detects the highest and the most common SNP rs7120118, which may be associated with T2DM and DKD. Thereby, it helps to conduct further association studies with larger populations and to diagnose the disease.