Association of ATG5 polymorphisms with cerebral palsy in children and analysis of risk factors
Objective To analyze the association of autophagy-related gene 5(ATG5)polymorphisms with cerebral palsy(CP)in children and to explore the risk factors influencing the occurrence of CP.Methods A total of 118 children with CP admitted to our hospital from January 2022 to January 2024 were selected as the study group;200 non-CP children admitted during the same period were included as the control group.The polymerase chain reaction-restriction fragment length poly-morphism(PCR-RFLP)technique was used to detect the single nucleotide polymorphisms(SNPs)of the ATG5 gene at po-sitions rs510432,rs573775,rs2299863,rs3804338,and rs6568431.Enzyme-linked immunosorbent assay(ELISA)was used to measure the plasma ATG5 levels in both groups of children,and logistic regression analysis was conducted to assess the relationship between ATG5 gene polymorphisms and the susceptibility to CP in children.Results The genotype fre-quencies of the ATG5 gene rs6568431 site AA,AC,and CC in the study and control groups were 25.42%,40.68%,33.90%,and 8.00%,40.00%,52.00%,respectively,with a statistically significant difference(P<0.05).The genotype frequencies at the rs510432,rs573775,rs2299863,and rs3804338 sites showed no statistically significant differences be-tween the two groups(P>0.05).The allele frequencies of the A and C alleles at the rs6568431 site in the study and control groups were 45.76%,54.24%,and 28.00%,72.00%,respectively,with a statistically significant difference(P<0.05).The allele frequencies at the rs510432,rs573775,rs2299863,and rs3804338 sites showed no statistically significant differ-ences(P>0.05).The plasma ATG5 level in the study group was(8.42±0.95)ng/mL,which was significantly lower than that in the control group(10.67±0.99)ng/mL,with a statistically significant difference(t=19.872,P<0.05).Children with the AA genotype had significantly lower plasma ATG5 levels than those with the AC+CC genotype,with a statistically significant difference(P<0.05).Univariate analysis results showed that the differences in the history of ad-verse obstetric history,maternal hypertension during pregnancy,abnormal amniotic fluid during pregnancy,fetal distress,pathological jaundice,and hypoxic-ischemic encephalopathy between the two groups were statistically significant(P<0.05).Multivariate logistic regression analysis results showed that a history of adverse obstetric history,abnormal amniotic fluid during pregnancy,fetal distress,pathological jaundice,hypoxic-ischemic encephalopathy,and the rs6568431 polymor-phism of the ATG5 gene were risk factors for the occurrence of CP,with statistically significant differences(P<0.05).Conclusion The polymorphism at the rs6568431 site of the ATG5 gene is associated with susceptibility to CP in children,and carrying the AA genotype may increase the risk of CP in children.In addition,the occurrence of CP in children is also correlated with various factors such as a history of adverse obstetric history,abnormal amniotic fluid during pregnancy,fetal distress,pathological jaundice,and hypoxic-ischemic encephalopathy.Therefore,active prevention of high-risk factors can help reduce the occurrence of CP in children.