{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:22:57Z","timestamp":1792041777130,"version":"4.4.0"},"reference-count":43,"publisher":"SAGE Publications","issue":"13","license":[{"start":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T00:00:00Z","timestamp":1596672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31600696"],"award-info":[{"award-number":["31600696"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771057"],"award-info":[{"award-number":["81771057"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81830031"],"award-info":[{"award-number":["81830031"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81970904"],"award-info":[{"award-number":["81970904"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81970923"],"award-info":[{"award-number":["81970923"]}],"id":[{"id":"10.13039\/501100001809","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":[[2020,12]]},"abstract":"<jats:p>\n                    The 3 major subphenotypes observed in patients with nonsyndromic orofacial clefts (NSOFCs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip with palate (NSCLP), and nonsyndromic cleft palate only (NSCPO). However, the genetic architecture underlying NSCPO is largely unknown. Here we performed a 2-stage genome-wide association study (GWAS) on NSCPO and replication analyses of selected variants in other NSOFCs from the Chinese Han population. We identified a novel locus (15q24.3) and a known locus (1q32.2) where variants in or near the gene reached genome-wide significance (2.80 \u00d7 10\n                    <jats:sup>\u221213<\/jats:sup>\n                    &lt; P &lt; 1.72 \u00d7 10\n                    <jats:sup>\u221208<\/jats:sup>\n                    ) in a test for association with NSCPO in a case-control design. Although a variant from 15q24.3 was found to be significantly associated with both NSCPO and NSCLP, the direction of estimated effects on risk were opposite. Our functional annotation of the risk alleles within 15q24.3 coupled with previously established roles of the candidate genes within identified risk loci in periderm development, embryonic patterning, and\/or regulation of cellular processes supports their involvement in palate development and the pathogenesis of cleft palate. Our study advances the understanding of the genetic basis of NSOFCs and provides novel insights into the pathogenesis of NSCPO.\n                  <\/jats:p>","DOI":"10.1177\/0022034520943867","type":"journal-article","created":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T18:53:24Z","timestamp":1596740004000},"page":"1461-1468","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":29,"title":["Genome-wide Analyses Identify a Novel Risk Locus for Nonsyndromic Cleft Palate"],"prefix":"10.1177","volume":"99","author":[{"given":"M.","family":"He","sequence":"first","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Zuo","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China"},{"name":"Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China"},{"name":"Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Liu","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China"},{"name":"Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China"},{"name":"Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5988-2787","authenticated-orcid":false,"given":"Y.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China"},{"name":"Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China"},{"name":"Key Laboratory of Major Autoimmune Diseases, Anhui Province, Hefei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei, 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