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Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect
BACKGROUND: To screen the single nucleotide polymorphisms (SNPs) in the coding regions of VANGL and FZD family members related to the plane cell polarity (PCP) signaling pathway in neural tube defects (NTDs) patients, so as to provide theoretical and experimental basis for the prevention and treatme...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834144/ https://www.ncbi.nlm.nih.gov/pubmed/36378568 http://dx.doi.org/10.1002/mgg3.2094 |
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author | Liu, Yan Dong, Liang Zhi, Xiufang Liu, Yang Zhao, Linsheng Xu, Xiaowei Wang, Lu Zheng, Jie Pu, Linjie Gu, Chunyu Shu, Jianbo Cai, Chunquan |
author_facet | Liu, Yan Dong, Liang Zhi, Xiufang Liu, Yang Zhao, Linsheng Xu, Xiaowei Wang, Lu Zheng, Jie Pu, Linjie Gu, Chunyu Shu, Jianbo Cai, Chunquan |
author_sort | Liu, Yan |
collection | PubMed |
description | BACKGROUND: To screen the single nucleotide polymorphisms (SNPs) in the coding regions of VANGL and FZD family members related to the plane cell polarity (PCP) signaling pathway in neural tube defects (NTDs) patients, so as to provide theoretical and experimental basis for the prevention and treatment of NTDs by intervening PCP signal transduction. METHODS: 112 NTDs patients were collected as the case group and 112 craniocerebral trauma patients as control. Afterwards, blood genomic DNA was extracted and sequenced. The distribution of SNP alleles and genotypes between case and control groups was analyzed. Finally, the NTD rat model was constructed, and the effect of SNPs on the expression level of VANGL and FZD genes was verified by qRT‐PCR. RESULTS: GC genotype was newly found at VANGL1 c.346G>A, as well as AT genotype in FZD6 c.97A>G. The distribution of VANGL1 c.346g>A allele and genotype was statistically different between the case and control groups (p < 0.05). The newly found genotype GC increased the risk of NTDs (OR = 9.918, 95% CI: 1.234%–79.709%). The results of qRT‐PCR showed that the expression level of FZD6 in E11 NTD fetuses were significantly increased (p < 0.05), but there was no obvious difference in the expression of VANGL1. CONCLUSION: We found a new variant of VANGL1 c.346G>A, whose GC genotype might play an important role in the pathogenesis of NTDs. The SNPs of VANGL1 had no significant effect on its expression level, indicating that it may induce NTDs through other ways. FZD6 was significantly overexpressed in NTDs fetuses. |
format | Online Article Text |
id | pubmed-9834144 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98341442023-01-13 Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect Liu, Yan Dong, Liang Zhi, Xiufang Liu, Yang Zhao, Linsheng Xu, Xiaowei Wang, Lu Zheng, Jie Pu, Linjie Gu, Chunyu Shu, Jianbo Cai, Chunquan Mol Genet Genomic Med Original Articles BACKGROUND: To screen the single nucleotide polymorphisms (SNPs) in the coding regions of VANGL and FZD family members related to the plane cell polarity (PCP) signaling pathway in neural tube defects (NTDs) patients, so as to provide theoretical and experimental basis for the prevention and treatment of NTDs by intervening PCP signal transduction. METHODS: 112 NTDs patients were collected as the case group and 112 craniocerebral trauma patients as control. Afterwards, blood genomic DNA was extracted and sequenced. The distribution of SNP alleles and genotypes between case and control groups was analyzed. Finally, the NTD rat model was constructed, and the effect of SNPs on the expression level of VANGL and FZD genes was verified by qRT‐PCR. RESULTS: GC genotype was newly found at VANGL1 c.346G>A, as well as AT genotype in FZD6 c.97A>G. The distribution of VANGL1 c.346g>A allele and genotype was statistically different between the case and control groups (p < 0.05). The newly found genotype GC increased the risk of NTDs (OR = 9.918, 95% CI: 1.234%–79.709%). The results of qRT‐PCR showed that the expression level of FZD6 in E11 NTD fetuses were significantly increased (p < 0.05), but there was no obvious difference in the expression of VANGL1. CONCLUSION: We found a new variant of VANGL1 c.346G>A, whose GC genotype might play an important role in the pathogenesis of NTDs. The SNPs of VANGL1 had no significant effect on its expression level, indicating that it may induce NTDs through other ways. FZD6 was significantly overexpressed in NTDs fetuses. John Wiley and Sons Inc. 2022-11-15 /pmc/articles/PMC9834144/ /pubmed/36378568 http://dx.doi.org/10.1002/mgg3.2094 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Original Articles Liu, Yan Dong, Liang Zhi, Xiufang Liu, Yang Zhao, Linsheng Xu, Xiaowei Wang, Lu Zheng, Jie Pu, Linjie Gu, Chunyu Shu, Jianbo Cai, Chunquan Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect |
title | Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect |
title_full | Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect |
title_fullStr | Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect |
title_full_unstemmed | Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect |
title_short | Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect |
title_sort | single nucleotide polymorphisms of pcp pathway related genes participate in the occurrence and development of neural tube defect |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834144/ https://www.ncbi.nlm.nih.gov/pubmed/36378568 http://dx.doi.org/10.1002/mgg3.2094 |
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