A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene

  • Authors:
    • Zhifa Zhang
    • Yongjun Chen
    • Yuezhou Wu
    • Yongyu Hao
    • Xuelin Zhao
    • Xiangyu Wang
    • Yan Wang
    • Yanhai Xi
    • Xuesong Zhang
  • View Affiliations

  • Published online on: June 24, 2020     https://doi.org/10.3892/mmr.2020.11273
  • Pages: 2093-2100
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Abstract

Congenital scoliosis (CS) is a congenital disease resulting in abnormal vertebral development. Several studies have indicated that both genetic and environmental factors during pregnancy increase the risk of CS development. However, the exact mechanisms underlying CS pathogenesis remain unknown. To address this issue, both genetic (by whole‑exome sequencing) and epigenetic (by methylated DNA immunoprecipitation sequencing) maps from CS disease‑discordant monozygotic twins were generated in the present study. The differences in the presence of common and rare single nucleotide polymorphisms and in methylation patterns between the twins were investigated. The results indicated that rare mutations were more likely to underlie CS development compared with common mutations. Furthermore, differences in the allele‑specific methylation pattern in the supervillin (SVIL) gene between the twins were identified. It has been reported that SVIL exerts a number of functions associated with CS, indicating its role as a novel mechanism promoting CS pathogenesis.
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September-2020
Volume 22 Issue 3

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Zhang Z, Chen Y, Wu Y, Hao Y, Zhao X, Wang X, Wang Y, Xi Y and Zhang X: A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene. Mol Med Rep 22: 2093-2100, 2020
APA
Zhang, Z., Chen, Y., Wu, Y., Hao, Y., Zhao, X., Wang, X. ... Zhang, X. (2020). A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene. Molecular Medicine Reports, 22, 2093-2100. https://doi.org/10.3892/mmr.2020.11273
MLA
Zhang, Z., Chen, Y., Wu, Y., Hao, Y., Zhao, X., Wang, X., Wang, Y., Xi, Y., Zhang, X."A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene". Molecular Medicine Reports 22.3 (2020): 2093-2100.
Chicago
Zhang, Z., Chen, Y., Wu, Y., Hao, Y., Zhao, X., Wang, X., Wang, Y., Xi, Y., Zhang, X."A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene". Molecular Medicine Reports 22, no. 3 (2020): 2093-2100. https://doi.org/10.3892/mmr.2020.11273