Genetic Screening for ABCC8 and KCNJ11 Polymorphisms among Arab Neonates

Abstract

Background: Diabetes Mellitus (DM) is a common disorder affecting people of all ages, from neonates to seniors, and even occurs during pregnancy. In addition to type 1 (T1DM) and type 2 (T2DM), the rate of gestational diabetes mellitus (GDM) and neonatal diabetes mellitus (NDM) is dramatically increasing. Interestingly, the genetic causes and relationship between GDM and NDM are not yet established, especially in the Arab population. Therefore, the prevalence of ABCC8 and KCNJ11 variants (well-known genetic causes of NDM) in Saudi neonates were explored and also analyzed for the influence of a history of parental diabetes and GDM on NDM. Methods: A total of 1101 Saudi pregnant women and their newborns were included in the study. Serum glucose levels were measured in mothers and neonates, while genetic screening for ABCC8 and KCNJ11 variants was performed for neonates only. Results: Among the 1101 neonates families, 59 (5.4%) mothers and 36 fathers (3.3%) had a history of type 1-DM (T1DM), whereas 35 (3.2%) mothers and only one father had a history of type-2 DM (T2DM). Furthermore, the prevalence of GDM was 8.1%. Only one hyperglycemia (NDM suspect) case was detected, with no physical abnormalities. Additionally, no association between GDM and NDM was observed. Genotyping of the neonates for KCNJ11 and ABCC8 genes revealed a homozygous mutant (GG) form of the rs80356611 KCNJ11 in only one neonate. All other tested polymorphisms rs193929358 (KCNJ11) and rs193922402, rs377686759, and rs143557848 of (ABCC8 ) produced single normal genotype. Conclusions: The data of this study showed that GDM is not associated with NDM in Saudi neonates and suggest that genetic screening in larger samples may show the role of KCNJ11 and ABCC8 variants in developing neonatal and postnatal diabetes.