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K. Xu1, Y. Wang1, J. Huang1, L. Liu1, Y. Xu1, L. He1, J. Li1, T. Peng1, X. Yang1, J. Pan1, H. Tang1
1Guangzhou Women and Children's Medical Center, Rehabilitation Department, Guangzhou, China
Background: 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.
Purpose: The objective of this research was to explore the relationship between Nogo-A polymorphisms (rs1012603, rs12464595, rs2864052, rs17046518, rs2588510, and rs8887) and CP in Southern China.
Methods: The Hardy-Weinberg equilibrium (HWE) testing, allele and genotype frequencies analysis, linkage disequilibrium (LD) analysis, and haplotype association analysis were applied to the genotyping of 592 cerebral palsy children and 600 controls. The association between Nogo-A polymorphisms and the risk of CP was presented by odds ratio (OR) and 95% confidence interval (CI).
Results: The results showed that the allele and genotype frequencies of rs1012603 (p=0.026, p=0.043; respectively) and rs17046518 (p=0.022, p=0.049; respectively) of CP group were significantly different from the control group. And the haplotype “TTGGG” was significantly associated with an increased risk of CP (OR=1.457, 95%CI=1.153~1.841, p=0.002). In addition, the haplotype “TTGGG” was also significantly associated with increased risks of spastic diplegia (OR=1.544, 95%CI=1.170~2.036, p=0.002), GMFCS I of CP (OR=1.578, 95%CI=1.163~2.140, p=0.003) and ADL (>9) of CP (OR=1.666, 95%CI=1.248~2.223, p=0.001).
Conclusion(s): The SNP rs1012603 and rs17046518 of Nogo-A were significantly correlated with CP. The haplotype “TTGGG” was significantly associated with an increased risk of CP (particularly in the spastic diplegia), and it mainly affected CP children with better motor and social function (GMFCS I of CP, ADL (>9) of CP).
Implications: This study provided new ideas and perspectives for the study of the mechanism of CP gene level.
Funding, acknowledgements: National Natural Science Foundation of China(81902309, 81672253); Natural Science Foundation of Guangdong Province(2019A1515010420); Featured Clinical Technique of Guangzhou(2019TS55).
Keywords: cerebral palsy, Nogo-A, genotyping
Topic: Paediatrics: cerebral palsy
Did this work require ethics approval? Yes
Institution: Guangzhou Women and Children's Medical Center
Committee: Ethics Committee of Guangzhou Women and Children's Medical Center
Ethics number: 2016021619
All authors, affiliations and abstracts have been published as submitted.
