{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:10:42Z","timestamp":1787019042184,"version":"build-2736575974"},"reference-count":34,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,4,13]],"date-time":"2025-04-13T00:00:00Z","timestamp":1744502400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100010031","name":"Postdoctoral Research Foundation of China","doi-asserted-by":"publisher","award":["2022M710256"],"award-info":[{"award-number":["2022M710256"]}],"id":[{"id":"10.13039\/501100010031","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research and Develop Program, West China Hospital of Stomatology Sichuan University","award":["RD-03-202301"],"award-info":[{"award-number":["RD-03-202301"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81271118"],"award-info":[{"award-number":["81271118"]}],"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":["81600849"],"award-info":[{"award-number":["81600849"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Nonsyndromic cleft lip with or without palate (NSCL\/P) is one of the most prevalent congenital orofacial defects. It arises from a combination of genetic and environmental factors. This study aims to identify new risk loci around the musculoaponeurotic fibrosarcoma oncogene family, protein B (\n                      <jats:italic toggle=\"yes\">MAFB<\/jats:italic>\n                      ) gene in NSCL\/P patients from the Western Han Chinese population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>\n                      A targeted region sequencing approach was employed to examine the\n                      <jats:italic toggle=\"yes\">MAFB<\/jats:italic>\n                      gene in 159 NSCL\/P cases. We conducted both single-variant association and gene-based burden analyses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>The study was conducted in a stomatological hospital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients, participants<\/jats:title>\n                    <jats:p>One hundred and fifty-nine NSCL\/P cases were analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interventions<\/jats:title>\n                    <jats:p>Blood samples were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main outcome measures<\/jats:title>\n                    <jats:p>\n                      To explore the association analysis between variants at\n                      <jats:italic toggle=\"yes\">MAFB<\/jats:italic>\n                      and NSCL\/P in Western Han Chinese population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified a cluster of significant common variants near the 3\u2019 end of\n                      <jats:italic toggle=\"yes\">MAFB<\/jats:italic>\n                      . Notably, rs6029223 showed significantly associated with NSCL\/P (\n                      <jats:italic toggle=\"yes\">P\u2009<\/jats:italic>\n                      =\u20093.82E-09, odds ration [OR]\n                      <jats:italic toggle=\"yes\">\u2009<\/jats:italic>\n                      =\n                      <jats:italic toggle=\"yes\">\u2009<\/jats:italic>\n                      0.29, 95% confidence interval [CI]: 0.18\u20130.46), nonsyndromic cleft lip and palate (NSCLP) (\n                      <jats:italic toggle=\"yes\">P\u2009<\/jats:italic>\n                      =\u20095.31E-08, OR\n                      <jats:italic toggle=\"yes\">\u2009<\/jats:italic>\n                      =\n                      <jats:italic toggle=\"yes\">\u2009<\/jats:italic>\n                      0.25, 95% CI: 0.14\u20130.44) and nonsyndromic cleft lip only (NSCLO) (\n                      <jats:italic toggle=\"yes\">P\u2009<\/jats:italic>\n                      =\u20091.3E-04, OR\n                      <jats:italic toggle=\"yes\">\u2009<\/jats:italic>\n                      =\n                      <jats:italic toggle=\"yes\">\u2009<\/jats:italic>\n                      0.34, 95%CI: 0.19\u20130.62). In Addition, rs79836852 and rs200392238 were significantly associated with both NSCL\/P and NSCLP.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our study revealed that single nucleotide polymorphisms near the 3\u2019 end of the\n                      <jats:italic toggle=\"yes\">MAFB<\/jats:italic>\n                      gene are risk factors for NSCL\/P and NSCLP in the Western Han Chinese population. Our findings reinforce the notion that\n                      <jats:italic toggle=\"yes\">MAFB<\/jats:italic>\n                      is a susceptibility gene for NSCL\/P.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656251333909","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T01:49:06Z","timestamp":1744595346000},"page":"1407-1413","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Targeted Resequencing Identifies Novel MAFB Variants Associated With Nonsyndromic Cleft Lip With or Without Cleft Palate"],"prefix":"10.1177","volume":"63","author":[{"given":"Bi-He","family":"Zhang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Department of Cleft Lip and Palate"},{"name":"West China Hospital of 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