Genetic factors in risk assessment for the development of type 2 diabetes mellitus in a small case series

Abstract

Abstract. Objective: This study aimed to investigate the role of genetic biomarkers in assessing risk for the eventual development of type 2 diabetes mellitus (T2DM). Methods: Three Maltese women with a history of previous severe GDM and with apparent similar clinical risk factors underwent anthropomorphic and metabolic reassessment 4–7 years post-partum. They were further genotyped for four specific genetic single nucleotide polymorphisms (SNPs) using the qPCR technique for the alleles of SLC2A2 (rs5393A/C), FTO (rs9939609A/T), PCK (rs2071023C/G) and CDKAL1 (rs10946398A/C). Results: While the previous obstetric history of all the caseswas similar, the biological statuswas characterized by an increasing degree of obesity correlating to increasing severity of current carbohydrate intolerance. Genotyping showed that all the tested SNPs were homozygous mutant in the T2DM woman and heterozygous in the impaired glucose tolerance woman. The woman with normal glucose tolerance was shown to be wild type for SLC2A2 (rs5393A/C). Conclusions: There appeared to be an interrelationship between eventual severity of carbohydrate metabolism abnormalities and the genetic allele status. It would appear that the specific allele-scoring can be used to identify further the potential risk of developing T2DM.