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A correlation between orofacial clefts and hypertelorism has been established by previous studies, hinting at shared genetic risk factors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>Syndromes characterized by hypertelorism and orofacial clefts were screened, followed by analysis and selection of their causative genes, resulting in 35 candidate genes. After genotyping quality control, 340 single nucleotide polymorphisms (SNPs) were analyzed. Allelic and genotypic associations were evaluated under the additive model with Bonferroni correction. Linkage disequilibrium and haplotype analysis were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Single nucleotide polymorphisms that showed significant allelic associations with NSOC subtypes are notably within\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">TBX1<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">ZIC2<\/jats:italic>\n                      genes. Single nucleotide polymorphisms within\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      were primarily associated with nonsyndromic cleft lip and palate (NSCLP), while SNPs within\n                      <jats:italic toggle=\"yes\">TBX1<\/jats:italic>\n                      exhibited risk and protective effects across NSCLP, nonsyndromic cleft lip only (NSCLO), and nonsyndromic cleft palate only.\n                      <jats:italic toggle=\"yes\">ZIC2<\/jats:italic>\n                      SNPs were significantly associated with NSCLP and NSCLO. Although 15 SNPs in\n                      <jats:italic toggle=\"yes\">CDH1<\/jats:italic>\n                      showed allelic association with NSCLO and were in strong linkage disequilibrium, no statistically significant genotypic or haplotypic associations were identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">TBX1<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">ZIC2<\/jats:italic>\n                      are identified as novel susceptibility genes for NSOC in the western Han Chinese population, with\n                      <jats:italic toggle=\"yes\">TRAPPC9<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">TBX1<\/jats:italic>\n                      showing distinct risk and protective effects among subtypes. While further studies are required to confirm their role, these findings deepen our understanding of NSOC genetics, emphasize the importance of subtype analysis, and provide valuable directions for further mechanistic studies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656251359501","type":"journal-article","created":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T06:59:46Z","timestamp":1752649186000},"page":"1983-1991","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Identifying New Susceptibility Gene of Nonsyndromic Orofacial Cleft Based on Syndromes Accompanied With Hypertelorism"],"prefix":"10.1177","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3337-5250","authenticated-orcid":false,"given":"Si-Di","family":"Zhang","sequence":"first","affiliation":[{"name":"Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0866-0893","authenticated-orcid":false,"given":"Yan-Song","family":"Lin","sequence":"additional","affiliation":[{"name":"Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4574-6619","authenticated-orcid":false,"given":"Si-Xuan","family":"Jia","sequence":"additional","affiliation":[{"name":"Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3513-4222","authenticated-orcid":false,"given":"Yan","family":"Chen","sequence":"additional","affiliation":[{"name":"Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0129-0367","authenticated-orcid":false,"given":"Zhong-Lin","family":"Jia","sequence":"additional","affiliation":[{"name":"Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,7,15]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24238"},{"issue":"21","key":"e_1_3_3_3_2","article-title":"Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development","volume":"147","author":"Nakatomi M","year":"2020","unstructured":"Nakatomi M, , Ludwig KU, , Knapp M, Kist R, Lisgo S, Ohshima H, Mangold E, Peters H. 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