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Abstract
BackgroundThe relationship between genetic factors and the development of cerebral palsy (CP) has recently attracted much attention. Polymorphisms in the genes encoding proinflammatory cytokines have been shown to be associated with susceptibility to perinatal brain injury and development of CP. Interleukin-6 (IL-6) is a proinflammatory cytokine that plays a pivotal role in neonatal brain injury, but conflicting results have been reported regarding the association between IL-6 single nucleotide polymorphisms (SNPs) and CP. The purpose of this study was to analyze IL-6 gene polymorphisms and protein expression and to explore the role of IL-6 in the Chinese CP population.MethodsA total of 753 healthy controls and 713 CP patients were studied to detect the presence of five SNPs (rs1800796, rs2069837, rs2066992, rs2069840, and rs10242595) in the IL-6 locus. Of these, 77 healthy controls and 87 CP patients were selected for measurement of plasma IL-6 by Luminex assay. The SHEsis program was used to analyze the genotyping data. For all comparisons; multiple testing on each individual SNP was corrected by the SNPSpD program.ResultsThere were no differences in allele or genotype frequencies between the overall CP patients and controls among the five genetic polymorphisms. However, subgroup analysis found significant sex-related differences in allele and genotype frequencies. Differences were found between spastic CP and controls in males for rs2069837; between CP with periventricular leukomalacia and controls in males for rs1800796 and rs2066992; and between term CP and controls in males for rs2069837. Plasma IL-6 levels were higher in CP patients than in the controls, and this difference was more robust in full-term male spastic CP patients. Furthermore, the genotype has an effect on IL-6 synthesis.ConclusionsThe influence of IL-6 gene polymorphisms on IL-6 synthesis and the susceptibility to CP is related to sex and gestational age.
Highlights
Cerebral palsy (CP) is a group of non-progressive motor impairment syndromes caused by lesions during early brain development that often include cognitive deficits and musculoskeletal dysfunction [1,2]
Based on a replicate genetic study on single nucleotide polymorphisms (SNPs) from different regions of the IL-6 gene, we have previously reported that the SNP rs2069837 is associated with male spastic cerebral palsy (CP) in the Chinese Han population
To further confirm the risk factors associated with SNPs and to validate the regulation of IL-6 by the SNPs [10], we used a larger sample size to analyze five polymorphisms from different regions of the IL-6 gene and combined this with a plasma IL-6 protein assay to evaluate the importance of IL-6 in the etiology of CP
Summary
Cerebral palsy (CP) is a group of non-progressive motor impairment syndromes caused by lesions during early brain development that often include cognitive deficits and musculoskeletal dysfunction [1,2]. The IL-6 single nucleotide polymorphism (SNP) rs1800795 (G-174C) was reported to be associated with disabling brain injury but not cognitive development in 148 children who were born at less than 32 weeks gestational age in the UK [9]. A population-based case-control study including 334,333 infants showed that rs1800795 is a risk factor for CP among term and near-term infants who were born at more than 36 weeks gestational age in the US [11,12]. Based on a replicate genetic study on SNPs from different regions of the IL-6 gene, we have previously reported that the SNP rs2069837 is associated with male spastic CP in the Chinese Han population. Interleukin-6 (IL-6) is a proinflammatory cytokine that plays a pivotal role in neonatal brain injury, but conflicting results have been reported regarding the association between IL-6 single nucleotide polymorphisms (SNPs) and CP. The purpose of this study was to analyze IL-6 gene polymorphisms and protein expression and to explore the role of IL-6 in the Chinese CP population
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