{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T13:03:17Z","timestamp":1777813397669,"version":"3.51.4"},"reference-count":40,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"National Science Funds of China","award":["81600849"],"award-info":[{"award-number":["81600849"]}]},{"name":"National Science Funds of China","award":["82170919"],"award-info":[{"award-number":["82170919"]}]},{"name":"National Science Funds of China","award":["82270948"],"award-info":[{"award-number":["82270948"]}]},{"name":"National Science Funds of China","award":["82322014"],"award-info":[{"award-number":["82322014"]}]},{"name":"the Research and Develop Program, West China Hospital of Stomatology Sichuan University","award":["No. RD-03-202301"],"award-info":[{"award-number":["No. RD-03-202301"]}]},{"DOI":"10.13039\/100012542","name":"Sichuan Provincial Science and Technology Support Program","doi-asserted-by":"publisher","award":["2024NSFSC0649"],"award-info":[{"award-number":["2024NSFSC0649"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>\n                    Nonsyndromic cleft palate only (NSCPO) significantly impairs swallowing and speech, reducing quality of life. While surgical interventions offer some improvement, full recovery remains challenging, underscoring the need for a deeper understanding of its etiology. This study aimed to investigate the genetic architecture of nonsyndromic cleft palate only (NSCPO) in the Han Chinese population, focusing on identifying novel susceptibility loci by leveraging data from previous genome-wide association studies and functional genomic datasets from the ENCODE project. We identified significant associations between NSCPO subtypes (incomplete cleft palate and hard and soft cleft palate) and variants such as rs660975 in\n                    <jats:italic toggle=\"yes\">IRF6<\/jats:italic>\n                    , rs3758244 in\n                    <jats:italic toggle=\"yes\">CDC37L1<\/jats:italic>\n                    , and rs4880224 in\n                    <jats:italic toggle=\"yes\">BNIP3<\/jats:italic>\n                    . Functional validation studies, including chromatin conformation capture and dual-luciferase assays, demonstrated that these single-nucleotide polymorphisms influence enhancer activity, thereby affecting gene expression. In addition, subtype-specific analyses revealed novel associations that may be obscured in mixed phenotypic cohorts. The findings highlight the importance of investigating genetic contributions at the subtype level to elucidate the complex etiology of cleft palate and demonstrate that the associated variants have functional effects in vitro, suggesting their roles in the pathogenesis of NSCPO.\n                  <\/jats:p>","DOI":"10.1177\/00220345251378124","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T11:19:36Z","timestamp":1761131976000},"page":"677-686","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Uncovering the Genetic Architecture of NSCPO in Chinese via Subtype GWAS"],"prefix":"10.1177","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2186-7052","authenticated-orcid":false,"given":"Y.","family":"You","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral &amp; Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School &amp; Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2429-1709","authenticated-orcid":false,"given":"M.","family":"Yao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9947-6687","authenticated-orcid":false,"given":"H.","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral &amp; Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School &amp; Hospital of Stomatology, Wuhan University, Wuhan, China"},{"name":"Frontier Science Center for Immunology and Metabolism, Wuhan University, Wuhan, China"},{"name":"TaiKang Center for Life and Medical Sciences, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Jia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,10,22]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.14146"},{"issue":"6","key":"e_1_3_3_3_1","first-page":"469","article-title":"Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate","volume":"35","author":"Beaty TH","year":"2011","unstructured":"Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Murray T, Redett RJ, Fallin MD, Liang KY, et al. 2011. 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