Abstract
Iron deficiency have been found to be linked to sleep disorders. Both genetic and environmental factors are risk factors for skewed iron metabolism, thus sleep disruptions in autism spectrum disorders (ASD). The aim of our study was to assess the prevalence of single nucleotide polymorphisms (SNPs) within transferrin gene (TF) rs1049296 C>T, rs3811647 G>A, transferrin receptor gene (TFR) rs7385804 A>C, and hepcidin antimicrobial peptide gene (HAMP) rs10421768 A>G in Polish individuals with ASD and their impact on sleep pattern. There were 61 Caucasian participants with ASD and 57 non-ASD controls enrolled. Genotypes were determined by real-time PCR using TaqMan SNP assays. The Athens Insomnia Scale (AIS) was used to identify sleep disruptions. There were 32 cases (57.14%) with insomnia identified. In the ASD group, the defined counts of genotypes were as follows: TF rs1049296, C/C n = 41 and C/T n = 20; TF rs3811647, G/G n = 22, G/A n = 34, and A/A n = 5; TFR rs7385804, A/A n = 22, A/C n = 29, and C/C n = 10; and HAMP rs10421768, A/A n = 34, A/G n = 23, and G/G n = 4. There were no homozygous carriers of the TF rs1049296 C>T minor allele in the ASD group. All analyzed SNPs were not found to be linked to insomnia. The investigated polymorphisms are not predictors of sleep disorders in the analyzed cohort of individuals with ASD.
Highlights
Autism spectrum disorders (ASD) belong to the group of pervasive developmental disorders of childhood
Considering the information provided about the potential association of iron with sleep patterns, the aim of our study was to establish the frequency of iron metabolism genes polymorphisms and investigate the relationship between genetic variants of the examined genes with sleep pattern disruptions in the Polish persons with ASD
As proposed by Soldatos et al [33], a six-point cut off in Athens Insomnia Scale (AIS) was established to be associated with insomnia
Summary
Autism spectrum disorders (ASD) belong to the group of pervasive developmental disorders of childhood. Clinical characteristics include: (1) deficits in social interaction; (2) impaired ability to communicate; and (3) behavior marked by stereotypies and narrow repertoire of activity [1,2]. The triad of symptoms manifests itself in early childhood, usually before 36 months of age (infantile autism) and continues throughout life [1,3]. According to the fifth Diagnostic and Statistical Manual of psychiatric disorders (DSM-V) released in 2013 by the American Association of Psychiatrists, culminating a. 14-year revision process, all prior diagnosis of autism, unspecific comprehensive development disorder, Int. J. Res. Public Health 2020, 17, 400; doi:10.3390/ijerph17020400 www.mdpi.com/journal/ijerph
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