| Popis: |
Background: The three single nucleotide polymorphisms(SNPs) (rs4979356, rs4979357 and rs7868992) of COL27A1 has been reported to correlate with Tourette Syndrome (TS) patients in European countries as well as northern Chinese population, though there are lack of relevant studies in southern Chinese population. In this study we aimed to evaluate the distribution of COL27A1(rs4979356, rs4979357 and rs7868992) gene polymorphism and its clinical relationship in children with Tic disorder (TD) in southern China.Methods: The children with TD between November 2018 to August 2019 from Department of Neurology, Guangzhou Women and Children’s Medical Center were recruited and followed up. The control children from normal primary school were also recruited. The SNP of COL27A1 (rs4979356, rs4979357 and rs7868992) was detected in child from each groups by polymerase chain reaction(PCR) and Sanger sequencing.Results: A total of 114 children with TD and 100 healthy control children were included. 111 out of 114 TD’s children were followed up more than one year, including 32 with transient tic disorder (TTD) (Age:7.58±2.402;), 45 with chronic tic disorder (CTD) (Age:: 8.72±2.312;) and 34 with Tourette Syndrome (TS)(Age:: 8.85±2.720) respectively. The genotype frequency and gene frequency of rs4979356, rs4979357 and rs7868992 from COL27A1 showed no statistically significant difference (P > 0.05) between the both groups；The distribution of genotype CG of COL27A1 rs4979356 in TS group was significantly higher than that in TTD+CTD group( P=0.002) and in control group (P=0.001)；there was no significant difference in allele frequency among each groups (P＞0.05)；Genotype TC of COL27A1 rs4979357 was significantly more distributed in TS group than in TTD+CTD group (P=0.004) and control group (P=0.001)；There was no significant difference in allele frequency among three groups (P＞0.05);Genotype GA of COL27A1 rs7868992 was significantly more distributed in TS group than in TTD+CTD group (P=0.018) and control group (P=0.035). The distribution of G allele frequency in CTD group was significantly higher than that in TS group ( P=0.025), while the difference of other allele frequency between the groups was not statistically significant(P＞0.05).Conclusion: The genotype CG of rs4979356, the genotype TC of rs4979357 and the genotype GA of rs7868992 might serve as the high risk factors in children with TS in southern China. |
