{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T19:27:06Z","timestamp":1787081226731,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Non\u2010syndromic orofacial cleft (NSOFC) is a complex congenital disease caused by genetic and environmental factors, and its aetiology remains unclear. This study aims to investigate the association between potentially functional single\u2010nucleotide polymorphisms (SNPs) in the\n                      <jats:italic>RAD51<\/jats:italic>\n                      and\n                      <jats:italic>E2F1<\/jats:italic>\n                      genes and the risk of developing NSOFC in the Han Chinese population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>\n                      A total of 200 NSOFC patients and 200 unrelated healthy controls of Han Chinese ancestry were recruited. Five candidate SNPs\u2014rs1801320, rs45507396, rs7180135 and rs11855560 in the\n                      <jats:italic>RAD51<\/jats:italic>\n                      gene, and rs3213180 in the\n                      <jats:italic>E2F1<\/jats:italic>\n                      gene\u2014were genotyped using the SNaPshot technique. Statistical and bioinformatics analyses were then performed to evaluate their associations with NSOFC.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>RAD51<\/jats:italic>\n                      variants were significantly associated with NSOFC. The G allele of rs45507396 was identified as a risk allele, showing significant associations under four genetic models, while rs1801320 was significantly associated with NSOFC under three genetic models. Bioinformatics analyses predicted that hsa\u2010miR\u2010299\u20105p could bind to rs45507396, which is located within an ESE\/ESS binding site and may induce exon skipping, potentially altering\n                      <jats:italic>RAD51<\/jats:italic>\n                      coding. In contrast, rs1801320 was predicted to be a benign variant with no impact on splicing. Both SNPs are localised within ENCODE\u2010annotated cis\u2010regulatory elements (cCREs), with rs1801320 situated in a promoter\u2010like cCRE and rs45507396 in an enhancer\u2010like cCRE. Additionally, these variants may affect RNA\u2010binding protein interactions, with rs1801320 influencing HNRNPA2B1 binding and rs45507396 affecting SFPQ binding. No significant associations with NSOFC were observed for rs7180135, rs11855560 or rs3213180.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study is the first to identify\n                      <jats:italic>RAD51<\/jats:italic>\n                      variants rs45507396 and rs1801320 as susceptibility loci for NSOFC in the Han Chinese population, providing novel genetic insights and a theoretical basis for further investigation into the molecular mechanisms of NSOFC.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ocr.70117","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T06:16:52Z","timestamp":1775024212000},"page":"698-707","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Functional Variants of the\n                    <scp>\n                      <i>RAD51<\/i>\n                    <\/scp>\n                    Gene Contribute to Susceptibility to Non\u2010Syndromic Orofacial Clefts in a Han Chinese Population"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4362-5038","authenticated-orcid":false,"given":"Siyuan","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1772-684X","authenticated-orcid":false,"given":"Renji","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4177-5967","authenticated-orcid":false,"given":"Xuejiu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital Capital Medical University  Beijing 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