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| XUE Binchuan,WANG Yuwen,WU Zhichong.The correlation between CELSR2 gene and the susceptibility of adolescent idiopathic scoliosis in the Chinese Han nationality[J].Chinese Journal of Spine and Spinal Cord,2019,(9):828-833. |
| The correlation between CELSR2 gene and the susceptibility of adolescent idiopathic scoliosis in the Chinese Han nationality |
| Received:June 18, 2019 Revised:July 20, 2019 |
| English Keywords:Adolescent idiopathic scoliosis CELSR2 Mutation Single nucleotide polymorphism sites |
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| English Abstract: |
| 【Abstract】 Objectives: To validate the correlation between the CELSR2 gene and the susceptibility of adolescent idiopathic scoliosis(AIS) in the Chinese Han population. Methods: Allelic specific multiple ligase detection reactions were used to genotype the previously reported CELSR2 gene susceptibility loci rs141489111, rs6698843 and rs2281894 in 1794 AIS patients and 1040 healthy controls. The genotyping information of other single nucleotide polymorphism sites(SNPs) of the CELSR2 gene was analyzed based on the GWAS database we previously published. The paravertebral muscles of 45 AIS patients(AIS group) and 10 age-matched spinal trauma patients(Control group) were collected during the operation, which were used to evaluate the expression tissue of CELSR2. Chi-square test was used to analyze the difference of the minor allele frequency(MAF) of SNPs between the two groups, and Student′s t test was used to statistically compare the gene expression level. Results: No mutation was detected in the rs141489111 locus of 1794 AIS patients or 1040 healthy controls, and all subjects had homozygous genotype GG. The genotypes and allele frequencies of rs6698843 and rs2281894 were not significantly different between the AIS and control groups(P＜0.05). The GWAS database showed that there was no significant correlation regarding genotypes or allele frequencies of the other seven SNP loci located in the CELSR2 gene between the two groups(P＜0.05). Moreover, CELSR2 mRNA expression of paraspinal muscle in AIS patients was comparable with that in the controls(P＜0.05). Conclusions: The mutation and polymorphisms sites of CELSR2 gene mentioned in previous reports have not been validated in Chinese Han population in our study, and there was no obvious abnormality in CELSR2 expression in paravertebral muscles of AIS patients. Therefore, CELSR2 may not be related to the onset of AIS in Han population. |
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