The rs10757278 Polymorphism of the 9p21.3 Locus in Children with Arterial Ischemic Stroke : a Family-Based and Case-Control Study
| Autor: | Ewa Emich-Widera, Tomasz Iwanicki, Paweł Niemiec, Ewa Pilarska, Tomasz Nowak, Marek Kaciński, Ilona Kopyta, Władysław Grzeszczak, Janusz Wendorff, Anna Balcerzyk, Iwona Zak, Wanda Trautsolt, Sylwia Górczyńska-Kosiorz, Karolina Pienczk-Reclawowicz |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
Heterozygote medicine.medical_specialty Adolescent Single-nucleotide polymorphism Locus (genetics) 030204 cardiovascular system & hematology Polymorphism Single Nucleotide Brain Ischemia 03 medical and health sciences 0302 clinical medicine Gene Frequency Risk Factors Internal medicine Genotype Humans Medicine Genetic Predisposition to Disease Age of Onset Allele Child Genetic Association Studies business.industry Homozygote Rehabilitation Case-control study Arterial Ischemic Stroke Pedigree Surgery SNP genotyping Paresis Stroke Phenotype Hemiparesis Genetic Loci Case-Control Studies Child Preschool Female Poland Neurology (clinical) medicine.symptom Chromosomes Human Pair 9 Cardiology and Cardiovascular Medicine business 030217 neurology & neurosurgery |
| Popis: | Background The association of 9p21.3 locus single nucleotide polymorphisms with arterial ischemic stroke in adults was demonstrated in many studies, but there are no studies in pediatric arterial ischemic stroke patients. We investigated whether the 9p21.3 locus polymorphism, namely rs10757278, is associated with the arterial ischemic stroke risk in children. Methods The study group consisted of 335 individuals: 80 children with arterial ischemic stroke, their biological parents (n = 122), and 133 children (age and sex matched) without any symptoms of arterial ischemic stroke as a control group. The rs10757278 polymorphism was genotyped using the TaqMan® Pre-designed SNP Genotyping Assay (Applied Biosystems). Two different study design models were used: family-based association test (transmission-disequilibrium test) and case-control model. Results There were no statistically significant differences in the distribution of genotypes and alleles of the rs10757278 polymorphism between groups of children with arterial ischemic stroke and controls. The frequency of both transmitted alleles in transmission-disequilibrium test analysis was identical (50%). The A allele carrier state (AA+AG genotype) was more frequent in arterial ischemic stroke children with hemiparesis than in patients without this symptom (94.5% versus 68.0%, P = .004). Conclusions There is no evidence to consider the 9p21.3 locus polymorphism as a risk factor for childhood arterial ischemic stroke. |
| Databáze: | OpenAIRE |
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