Investigation of rs328 polymorphism of lipoprotein lipase and rs1260326 polymorphism of glucokinase regulatory genes in individuals with type 2 diabetes in Yazd, Iran

Abstract Background Type 2 diabetes (T2DM) is a complex disease influenced by both genetic and environmental factors, affecting significant percentage of the global population. Early detection through biomarkers is crucial for preventing future complications. The lipoprotein lipase ( LPL ) gene, involved in lipid metabolism, and the glucokinase regulatory gene ( GCKR ), regulating glucose metabolism, both play roles in T2DM. The purpose of this study was to determine the prevalence of the GCKR rs1260326 and LPL rs328 polymorphisms, in Yazd Province's familial T2DM population. Results Since January 2024, from the patients referred to the Yazd Province Diabetes Research Center, 150 type 2 diabetes samples were collected for this case–control study. Informed written agreement was obtained from the participants once they were informed about the study's specifics, and 150 samples were also taken from the referring individuals who were healthy controls. Double-tube ARMS-PCR method was used to identify the presence or absence of the target polymorphisms. The genotypic frequencies of the rs328 and rs1260326 polymorphisms differed significantly between the patient and control groups ( p = 0.001 and p = 0.0342, respectively). Both SNPs showed the highest significance ( p = 0.000) when nephritis symptoms were present. Conclusions The results of this study suggest a potential association between type 2 diabetes and the GCKR and LPL polymorphisms (rs1260326 and rs328) in the Yazd province population. However, further research is needed to confirm these findings.