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This study aimed to identify the loss of heterozygosity (LOH) involved in hypodontia and NSCL\/P pathogenesis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>This is a cross-sectional study that conducted genome-wide copy number analysis using CytoScan 750K array on salivary samples from Malay subjects with NSCL\/P with or without hypodontia aged 7\u201313 years. To confirm the significant results, simple logistic regression was employed to conduct statistical data analysis using SPSS software.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The results indicated the most common recurrent copy neutral LOH (cnLOH) observed at 1p33-1p32.3, 1q32.2-1q42.13 and 6p12.1-6p11.1 loci in 8 (13%), 4 (7%), and 3 (5%) of the NSCL\/P subjects, respectively. The cnLOHs at 1p33-1p32.3 (D1S197), 1q32.2-1q42.13 (D1S160), and 6p12.1-6p11.1 (D1S1661) were identified observed in NSCL\/P and noncleft children using microsatellite analysis markers as a validation analysis. The regions affected by the cnLOHs at 1p33-1p32.3, 1q32.2-1q42.13, and 6p12.1-6p11.1 loci contained selected genes, namely <jats:italic>FAF1<\/jats:italic>, <jats:italic>WNT3A<\/jats:italic> and <jats:italic>BMP5<\/jats:italic>, respectively. There was a significant association between the D1S197 (1p33-32.3) markers containing the FAF1 gene among NSCL\/P subjects with or without hypodontia compared with the noncleft subjects (<jats:italic>p<\/jats:italic>-value\u2009=\u20090.023).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The results supported the finding that the genetic aberration on 1p33-32.3 significantly contributed to the development of NSCL\/P with or without hypodontia. These results have an exciting prospect in the promising field of individualized preventive oral health care.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12903-023-03464-3","type":"journal-article","created":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T11:02:26Z","timestamp":1701255746000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and\/or without cleft palate with hypodontia"],"prefix":"10.1186","volume":"23","author":[{"given":"Norliana","family":"Ghazali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Normastura Abd","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thirumulu Ponnuraj","family":"Kannan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azlina","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina","family":"Sulong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,11,29]]},"reference":[{"key":"3464_CR1","doi-asserted-by":"publisher","first-page":"e635","DOI":"10.1002\/mgg3.635","volume":"7","author":"NS Mohamad Shah","year":"2019","unstructured":"Mohamad Shah NS, Sulong S, Wan Sulaiman WA, Halim AS. 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