Abstract
Introduction: There is a complex interaction between glucose and insulin homeostasis pathways, diabetes and autism spectrum disorder (ASD). It is known that neuronal migration pathways may be interrupted by intrauterine hyperinsulinemia and hyperglycemia. Moreover, neonatal hypoglycemia which is related to mitochondrial dysfunction has a potential role that influences ASD pathogenesis [6,7]. We present here a preliminary case-control study on children and adolescents (8 – 15 years old) with and without autism spectrum disorder examining the association between genetic polymorphisms impacting glucose and insulin homeostasis and autism spectrum disorder in Kazakhstan. Methods: In this case-control study looking at 211 samples, associations of glucose and insulin homeostasis gene polymorphisms of 10 genes and demographic variables with autism spectrum disorder were examined. Fisher’s exact test and multivariate logistic regression models were used to find associations between polymorphisms and other predictors. Results: Preliminary results suggest that there is a complex relation between autism spectrum disorder and genetic variations that are associated with impaired glucose and insulin homeostasis susceptibility. There is a significant association of the T allele of ADIPOQ (rs1501299) (OR=1.75, 95% CI:1.04-2.93, p-value=0.035); the T allele of GCKR (rs1260326) (OR=0.6, 95% CI:0.39-0.93, p-value=0.023); the T allele of SLC30A8 (rs13266634) (OR=1.77, 95% CI:1.12-2.78, p-value=0.014); and the recessive GG genotype of rs10757278 (CDKN2B) (OR=2.58, 95% CI: 1.24-5.36, p-value=0.011) with autism spectrum disorder in the Kazakhstan population. Conclusion: Overall, this preliminary study revealed that there is evidence of significant associations between glucose and insulin homeostasis gene polymorphisms and autism spectrum disorder susceptibility in Kazakhstan and further study in this area to further verify this, is needed.
Highlights
There is a complex interaction between glucose and insulin homeostasis pathways, diabetes and autism spectrum disorder (ASD)
Preliminary results suggest that there is a complex relation between autism spectrum disorder and genetic variations that are associated with impaired glucose and insulin homeostasis susceptibility
There is a significant association of the T allele of ADIPOQ (OR=1.75, 95% confidence interval (CI):1.04-2.93, p-value=0.035); the T allele of GCKR (OR=0.6, 95% CI:0.39-0.93, p-value=0.023); the T allele of SLC30A8 (OR=1.77, 95% CI:1.12-2.78, p-value=0.014); and the recessive GG genotype of rs10757278 (CDKN2B) (OR=2.58, 95% CI: 1.24-5.36, p-value=0.011) with autism spectrum disorder in the Kazakhstan population
Summary
There is a complex interaction between glucose and insulin homeostasis pathways, diabetes and autism spectrum disorder (ASD). Autism spectrum disorder (ASD) is a neurodevelopmental disorder that comprises Autism disorder, Asperger syndrome and Pervasive Developmental Disorder – Not Otherwise Specified [1]. The latter two are known to be milder forms of the disorder. ASD is expressed in a wide spectrum of ways. They vary in daily life limitations and generally, in how it shapes the lives of people with ASD as well as the lives of their families. In Kazakhstan, the ASD statistics is still lower than in the world, but it demonstrates an upward trend: increasing from 77 to almost 2000 diagnosed with ASD from 2003 to 2017 [3]
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