{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T01:35:44Z","timestamp":1772847344394,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771589"],"award-info":[{"award-number":["81771589"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010041","name":"Tianjin Science and Technology Committee","doi-asserted-by":"publisher","award":["18ZXDBSY00170"],"award-info":[{"award-number":["18ZXDBSY00170"]}],"id":[{"id":"10.13039\/501100010041","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>To screen the single nucleotide polymorphisms (SNPs) in the coding regions of <jats:italic>VANGL<\/jats:italic> and <jats:italic>FZD<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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 <jats:italic>VANG<\/jats:italic>L and <jats:italic>FZD<\/jats:italic> genes was verified by qRT\u2010PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>GC genotype was newly found at <jats:italic>VANGL1<\/jats:italic> c.346G&gt;A, as well as AT genotype in <jats:italic>FZD6<\/jats:italic> c.97A&gt;G. The distribution of <jats:italic>VANGL1<\/jats:italic> c.346g&gt;A allele and genotype was statistically different between the case and control groups (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). The newly found genotype GC increased the risk of NTDs (OR\u00a0=\u00a09.918, 95% CI: 1.234%\u201379.709%). The results of qRT\u2010PCR showed that the expression level of <jats:italic>FZD6<\/jats:italic> in E11 NTD fetuses were significantly increased (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), but there was no obvious difference in the expression of <jats:italic>VANGL1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We found a new variant of <jats:italic>VANGL1<\/jats:italic> c.346G&gt;A, whose GC genotype might play an important role in the pathogenesis of NTDs. The SNPs of <jats:italic>VANGL1<\/jats:italic> had no significant effect on its expression level, indicating that it may induce NTDs through other ways. <jats:italic>FZD6<\/jats:italic> was significantly overexpressed in NTDs fetuses.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2094","type":"journal-article","created":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T17:40:22Z","timestamp":1668534022000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Single nucleotide polymorphisms of <scp>PCP<\/scp> pathway related genes participate in the occurrence and development of neural tube defect"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2605-9735","authenticated-orcid":false,"given":"Yan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Nephrology Tianjin Children's Hospital (Children's Hospital of Tianjin University)  Tianjin China"},{"name":"Graduate 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