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Upstream Stimulating Factor 1 (USF-1) Gene Polymorphisms and the Risk, Symptoms, and Outcome of Pediatric Ischemic
Anna Balcerzyk1, Paweł Niemiec1, Tomasz Iwanicki1
1Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
Insights
Genetic factors for pediatric ischemic stroke were investigated. While no direct link was found for USF-1 gene polymorphisms, specific genotypes may influence stroke outcomes like epilepsy and cognitive decline.
Area of Science:
- Genetics
- Pediatric Neurology
- Molecular Biology
Background:
- Pediatric ischemic stroke is a significant cause of childhood morbidity and mortality.
- Dyslipidemias are prevalent in European pediatric stroke populations.
- Investigating genetic predispositions is crucial for understanding stroke etiology and outcomes.
Purpose of the Study:
- To analyze the association between two upstream stimulating factor 1 (USF-1) gene polymorphisms (rs2516839 and rs3737787) and pediatric ischemic stroke.
- To explore the potential influence of these polymorphisms on stroke symptoms and long-term outcomes.
Main Methods:
- Case-control study involving 82 children with stroke, 156 parents, and 146 controls.
- Transmission disequilibrium test (TDT) applied to family data.
- Genotyping of rs2516839 and rs3737787 polymorphisms using TaqMan assays.
Main Results:
- No statistically significant differences in genotype or allele frequencies were observed between pediatric stroke patients and controls.
- No significant differences in allele transmission from parents to affected children were found.
- The TT genotype of rs2516839 was associated with epilepsy and dysarthria; the TT genotype of rs3737787 was linked to decreased intellectual functioning.
Conclusions:
- The analyzed USF-1 gene polymorphisms are not directly associated with the risk of pediatric ischemic stroke.
- Specific genotypes of USF-1 polymorphisms may influence the occurrence of certain stroke-related outcomes in children, including neurological deficits and cognitive impairment.
Background:
Pediatric ischemic stroke is an important cause of morbidity and mortality. As previous studies of children after stroke showed, dyslipidemias were very common in Polish and other European populations. Thus, looking for genetic factors predisposing to pediatric stroke, its symptoms, and outcome, we have analyzed 2 polymorphisms of the upstream stimulating factor 1 (USF-1) gene.
Materials And Methods:
The study group consisted of 82 children with stroke, 156 parents, and 146 controls. We used 2 alternative methods: the case-control model and the analysis of families using the transmission disequilibrium test. The 2 polymorphisms, rs2516839 and rs3737787, were genotyped using the TaqMan Pre-Designed SNP Genotyping Assay. The Statistica 10.0 software was used in all statistical analyses.
Results:
We did not observe any statistical differences in genotype and allele frequencies between patients and controls. There were also no significant differences in the transmission of alleles from the parents to the affected children. However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning.
Conclusions:
Our study did not show any associations between the 2 analyzed polymorphisms of the USF-1 gene and pediatric ischemic stroke. However, we have observed an influence of specific genotypes on the outcome of stroke, including epilepsy, dysarthria, and a decrease in intellectual functioning.
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