Ectonucleotide pyrophosphatase/phosphodiesterase 1 (K121Q rs1044498) polymorphism is associated with diabetic nephropathy but not obesity among type-2 diabetes mellitus Egyptian patients

Abstract

Introduction Genetics contribute to the development of type-2 diabetes mellitus (T2DM), its complications, and phenotypes such as diabetic nephropathy (DN) and obesity. Although the likely associations among the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, DN and obesity have been massively investigated, the results are still controversial. This study aimed to assess whether ENPP1 K121Q (A/C rs1044498) variant is associated with DN and obesity in T2DM Egyptian patients. We genotyped this variant in a total of 183 T2DM Egyptian patients who were classified into cases (91 participants with moderately increased albuminuria or severely increased albuminuria ≥ 30 mg/g) and controls (92 patients with normoalbuminuria 0.05). Conclusion ENPP1 K121Q (A/C, rs1044498) variant is associated with DN but not obesity among Egyptian T2DM patients.

Keywords

• diabetic nephropathy
• ectonucleotide pyrophosphatase/phosphodiesterase 1 k121q rs1044498 variant
• obesity
• type-2 diabetes mellitus