rs1888747 polymorphism in the FRMD3 gene, gene and protein expression: role in diabetic kidney disease.

Background: We carried out a case-control study in patients with type 2 diabetes mellitus (T2DM) to evaluate the association between seven single nucleotide polymorphisms (SNPs) previously described to be linked to diabetic kidney disease (DKD) in type 1 diabetes mellitus (T1DM). Additionally, we evaluated gene and protein expression related to the polymorphism associated with DKD.

Methods: The association study included 1098 T2DM patients (718 with DKD and 380 without DKD).

FRMD3 gene: its role in diabetic kidney disease. A narrative review.

Diabetic kidney disease (DKD) is a chronic complication of diabetes mellitus, which is considered a worldwide epidemic. Several studies have been developed in order to elucidate possible genetic factors involved in this disease. The FRMD3 gene, a strong candidate selected from genome wide association studies (GWAS), encodes the structural protein 4.

Polymorphisms of the UCP2 Gene Are Associated with Glomerular Filtration Rate in Type 2 Diabetic Patients and with Decreased UCP2 Gene Expression in Human Kidney.

Introduction: Uncoupling protein 2 (UCP2) reduces production of reactive oxygen species (ROS) by mitochondria. ROS overproduction is one of the major contributors to the pathogenesis of chronic diabetic complications, such as diabetic kidney disease (DKD). Thus, deleterious polymorphisms in the UCP2 gene are candidate risk factors for DKD.

Association between the ENPP1 K121Q polymorphism and risk of diabetic kidney disease: a systematic review and meta-analysis.

The potential association between the K121Q (A/C, rs1044498) polymorphism in the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1) gene and risk of diabetic kidney disease (DKD) has been investigated. Nevertheless, the effect of this variant on DKD risk is still under debate, and conflicting results have been reported. To this date, no meta-analysis has evaluated the association of the K121Q polymorphism with DKD.