engleski

TNFalpha promoter SNPs - association with cerebral palsy

Introduction: Cerebral palsy (CP) is a nonprogressive motor disorder caused by white matter damage in the developing brain. It is often accompanied with neurocognitive and sensory disabilities. The cause and pathogenesis of CP is multifactorial and continues to be poorly understood. Periventricular leucomalatia (PVL) affects the developing white matter of neonatal brain and is associated with cerebral palsy, especially in premature infant. Inflammatory and infectious conditions are implicated in the cause of PVL. TNFalpha is a cytokine produced by activated monocytes and macrophages, which play a key role in the inflammatory response. TNFalpha gene is mapped to chromosome 6p21.3 and a large number of polymorphisms of its promoter, called "high-production" polymorphisms, have been described. Increased TNFalpha levels in peripheral blood in premature and close-to-term birth have been found to associate with the development of CP. Aim: The aim of our study was to estimate allelic frequency for four promoter region SNPs in TNFalpha gene, -238, -308, -857 and -1031 in the children with the CP. Materials and methods: DNAs obtained from peripheral blood of 27 CP patients and 162 unrelated healthy volunteers were genotyped for the TNFalpha -238, -308, -857 and -1031 SNPs using real-time PCR TaqMan&reg ; ; SNP genotyping assays. Results and conclusion: There was statistically significant correlation (p<0.05) between cerebral palsy and expression affecting allele variant of TNFalpha -1031C. "High-production" allele variant -1031C was more common in the population with cerebral palsy in the comparison to healthy volunteers. The association between these polymorphisms and cerebral palsy has to be investigated in the future studies.

TNFalpha; SNPs; cerebral palsy

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