Association of Nogo-A Gene Polymorphisms with Cerebral Palsy in Southern China: A Case-Control Study

Abstract

Cerebral palsy (CP) is a motor and postural disorder syndrome caused by the nonprogressive dysfunction of the developing brain. Previous studies strongly indicated that the Nogo-A gene might be related to the pathogenesis of CP. The objective of this research was to explore the relationship between Nogo-A polymorphisms (rs1012603, rs12464595 and rs2864052) and CP in Southern China. The Hardy-Weinberg equilibrium (HWE) testing, allele and genotype frequencies analysis, and haplotype association analysis were applied to the genotyping of 592 CP children and 600 controls. The results showed that the allele and genotype frequencies of rs1012603 of CP group were significantly different from the control group. The haplotype “TTGGG” was significantly associated with an increased risk of CP. The allele frequencies of rs1012603 were significant differences between CP with spastic diplegia, female CP cases and controls. Furthermore, significant differences in allele and genotype frequencies were also noticed between GMFCS I of CP and controls for rs1012603, and significant differences in allele and genotype frequencies were observed between the ADL (>9) of CP and controls for rs1012603, and rs12464595. This study showed that the SNPs rs1012603 of Nogo-A were significantly correlated with CP, and the correlations were also found in spastic diplegia, GMFCS I of CP, ADL (>9) of CP and female subgroups, indicating that Nogo-A might mainly affected mild types of CP and there might be sex-related differences.

Longitudinal cohort protocol study of children with cerebral palsy in China: functional developmental trends, genetic etiology and imaging features of brain

“…We previously collected 120 family blood samples of idiopathic CP, and found highly correlated genes [13] . We also performed Nogo-A gene polymorphism analysis for CP, and found that Nogo-A might affect mild types of CP and there might be sex-related differences [14] . Although it was reported that the diagnostic yield of exome or genome sequencing was 31.1%, the rate may be underestimate as many researches did not conduct family blood test [15] .…”