Association between phosphoglucomutase-1 gene y420h polymorphism and type 2 diabetes mellitus: A Case-control study

Abstract

Background and Aim: Phosphoglucomutase 1 (PGM1) is an enzyme that catalyzes the key step that links glycogen synthesis with glucose metabolism. Single nucleotide polymorphism (SNP) (rs11208257) is a functional variant in the PGM1 gene that codes for this enzyme. Impaired glycogen synthesis is linked to type 2 diabetes mellitus (T2DM). Whether this translates into an association between SNP rs11208257 and T2DM is not known. We evaluated the association between the PGM1 gene variant (Y420H; c. 1258 T > C; rs11208257) and T2DM. Materials and Methods: We carried out a case-control study by including 225 T2DM patients and 225 age and gender-matched healthy controls. SNP rs11208257 was genotyped by a polymerase chain reaction-restriction fragment length polymorphism method. Results: Minor allele frequency was 45% in T2DM patients and 30% in healthy individuals (P = 1.4 × 10-2; Odds ratio = 1.6). The genetic model analysis showed the highest odds ratio for the additive effect of the risk allele. Conclusions: The results show that SNP rs11208257 in the PGM1 gene is associated with the risk of T2DM. This association underlines the importance of the glycogen pathway in the pathophysiology of T2DM.

Keywords

• genetic variation
• glycogen pathway
• phosphoglucomutase
• type 2 diabetes mellitus