{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T14:41:53Z","timestamp":1793716913693,"version":"4.6.1"},"reference-count":45,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T00:00:00Z","timestamp":1778457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Chinese Postdoctoral Science Foundation","award":["Mulong Du and Shu Lou"],"award-info":[{"award-number":["Mulong Du and Shu Lou"]}],"id":[{"id":"https:\/\/ror.org\/0426zh255","id-type":"ROR","asserted-by":"crossref"}]},{"name":"National Natural Science Foundation of China","award":["82301014"],"award-info":[{"award-number":["82301014"]}],"id":[{"id":"https:\/\/ror.org\/01h0zpd94","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Circular RNAs (circRNAs) affect fundamental biological processes, but their genetic effects on nonsyndromic cleft lip with or without cleft palate (NSCL\/P) remain unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>RNA sequencing of human embryonic palate mesenchyme cells identified circRNAs and their microRNA response elements (MREs) involved in NSCL\/P. Genetic effects of single-nucleotide polymorphisms (SNPs) in MREs were evaluated in 858 NSCL\/P cases and 1248 controls. Weighted genetic risk score (wGRS) and the predictive performance were evaluated through areas under the receiver operating characteristic curve (AUC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 6272 MREs of 574 known and 53 novel circRNAs harboring 130 SNPs. Rs629772 in circPRKCE and rs365132 in circUIMC1 showed significant associations with NSCL\/P [rs629772: OR\u2009=\u20090.82,\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2009=\u20096.45E-03; rs365132: OR\u2009=\u20090.78,\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2009=\u20097.85E-04]. Adding these SNPs to wGRS improved AUC to 0.707 for NSCL\/P prediction. Additionally, rs629772 T&gt;C increased the binding affinity of hsa-miR-628-5p and circPRKCE, and rs365132 G&gt;T increased the binding of hsa-miR-374c-3p and hsa-miR-3916 to circUIMC1, followed by the alteration of 9, 6, and 65 target genes for hsa-miR-628-5p, hsa-miR-374c-3p, and hsa-miR-3916, respectively, which participated in key biological pathways.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study indicated genetic effects in circRNA MREs associated with NSCL\/P, offering insights into the genetic regulation and functional mechanisms of the disease.<\/jats:p>\n                  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