engleski

Association of TNFalpha promoter polymorphisms and cerebral palsy

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. Chorioamnionitis, clinical silent or manifest, has been reported to be a risk factor for CP both in term and preterm infants. 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. 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. DNAs obtained from peripheral blood of 40 CP patients and 150 unrelated healthy volunteers were genotyped for the TNFalpha -238, -308, -857 and -1031 SNPs using real-time PCR TaqMan&#174; ; ; ; ; SNP genotyping assays. There was statistically significant correlation (p<0.05) between cerebral palsy and expression affecting allele variants of TNFalpha -308A and -857T. The association between these polymorphisms and cerebral palsy has to be investigated in the future studies.

TNFalpha; SNP; cerebral palsy

nije evidentirano