Jana Marciniak, Gabriela Fonseca-Souza, Rafaela Scariot, Svenja Beisel-Memmert, Nikolaos Daratsianos, Michelle Nascimento Meger, Thais Vilalba Paniagua Machado do Nascimento, Christian Kirschneck, Juliana Feltrin-Souza, Erika Calvano Küchler
{"title":"维生素D相关和甲状旁腺激素基因的单核苷酸多态性与非综合征性唇裂的关系。","authors":"Jana Marciniak, Gabriela Fonseca-Souza, Rafaela Scariot, Svenja Beisel-Memmert, Nikolaos Daratsianos, Michelle Nascimento Meger, Thais Vilalba Paniagua Machado do Nascimento, Christian Kirschneck, Juliana Feltrin-Souza, Erika Calvano Küchler","doi":"10.1007/s00056-025-00614-w","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Nonsyndromic oral clefts (NSOC) result from disruptions in the development of the primary and secondary palate and are categorized into cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). NSOC is a condition with complex genetically heterogeneous backgrounds for that several genes might be involved. Thus, this study investigated whether functional single nucleotide polymorphisms (SNPs) in genes that potentially influence the vitamin D levels and parathyroid hormone (PTH) levels are associated with NSOC.</p><p><strong>Materials and methods: </strong>Brazilian individuals with NSOC-presenting cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP)-and a comparison group were selected. Individuals' DNA was obtained from epithelial cells of the oral mucosa. Nine SNPs in five genes (VDR, CYP27B1, CYP24A1, SEC23A and PTH) were selected. Genotyping was performed by real-time polymerase chain reaction (PCR). The association between NSOC and vitamin D related polymorphisms was analyzed by Χ<sup>2</sup> test at a significance level of p < 0.005 (after Bonferroni correction).</p><p><strong>Results: </strong>The sample consisted of 274 individuals: 154 NSOC individuals and 120 controls. A total of 43 (27.9%) had CL, 91 (59.1%) had CLP and 20 (13.0%) had CP. After Bonferroni correction, none of the SNPs were associated with NSOC (p > 0.005).</p><p><strong>Conclusion: </strong>None of the studied SNPs in vitamin D related and parathyroid hormone genes were associated with NSOC.</p>","PeriodicalId":54776,"journal":{"name":"Journal of Orofacial Orthopedics-Fortschritte Der Kieferorthopadie","volume":" ","pages":""},"PeriodicalIF":1.6000,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association between single nucleotide polymorphisms in vitamin D related and parathyroid hormone genes with nonsyndromic oral cleft.\",\"authors\":\"Jana Marciniak, Gabriela Fonseca-Souza, Rafaela Scariot, Svenja Beisel-Memmert, Nikolaos Daratsianos, Michelle Nascimento Meger, Thais Vilalba Paniagua Machado do Nascimento, Christian Kirschneck, Juliana Feltrin-Souza, Erika Calvano Küchler\",\"doi\":\"10.1007/s00056-025-00614-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Nonsyndromic oral clefts (NSOC) result from disruptions in the development of the primary and secondary palate and are categorized into cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). NSOC is a condition with complex genetically heterogeneous backgrounds for that several genes might be involved. Thus, this study investigated whether functional single nucleotide polymorphisms (SNPs) in genes that potentially influence the vitamin D levels and parathyroid hormone (PTH) levels are associated with NSOC.</p><p><strong>Materials and methods: </strong>Brazilian individuals with NSOC-presenting cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP)-and a comparison group were selected. Individuals' DNA was obtained from epithelial cells of the oral mucosa. Nine SNPs in five genes (VDR, CYP27B1, CYP24A1, SEC23A and PTH) were selected. Genotyping was performed by real-time polymerase chain reaction (PCR). The association between NSOC and vitamin D related polymorphisms was analyzed by Χ<sup>2</sup> test at a significance level of p < 0.005 (after Bonferroni correction).</p><p><strong>Results: </strong>The sample consisted of 274 individuals: 154 NSOC individuals and 120 controls. A total of 43 (27.9%) had CL, 91 (59.1%) had CLP and 20 (13.0%) had CP. After Bonferroni correction, none of the SNPs were associated with NSOC (p > 0.005).</p><p><strong>Conclusion: </strong>None of the studied SNPs in vitamin D related and parathyroid hormone genes were associated with NSOC.</p>\",\"PeriodicalId\":54776,\"journal\":{\"name\":\"Journal of Orofacial Orthopedics-Fortschritte Der Kieferorthopadie\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2025-09-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Orofacial Orthopedics-Fortschritte Der Kieferorthopadie\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00056-025-00614-w\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Orofacial Orthopedics-Fortschritte Der Kieferorthopadie","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00056-025-00614-w","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
Association between single nucleotide polymorphisms in vitamin D related and parathyroid hormone genes with nonsyndromic oral cleft.
Objective: Nonsyndromic oral clefts (NSOC) result from disruptions in the development of the primary and secondary palate and are categorized into cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). NSOC is a condition with complex genetically heterogeneous backgrounds for that several genes might be involved. Thus, this study investigated whether functional single nucleotide polymorphisms (SNPs) in genes that potentially influence the vitamin D levels and parathyroid hormone (PTH) levels are associated with NSOC.
Materials and methods: Brazilian individuals with NSOC-presenting cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP)-and a comparison group were selected. Individuals' DNA was obtained from epithelial cells of the oral mucosa. Nine SNPs in five genes (VDR, CYP27B1, CYP24A1, SEC23A and PTH) were selected. Genotyping was performed by real-time polymerase chain reaction (PCR). The association between NSOC and vitamin D related polymorphisms was analyzed by Χ2 test at a significance level of p < 0.005 (after Bonferroni correction).
Results: The sample consisted of 274 individuals: 154 NSOC individuals and 120 controls. A total of 43 (27.9%) had CL, 91 (59.1%) had CLP and 20 (13.0%) had CP. After Bonferroni correction, none of the SNPs were associated with NSOC (p > 0.005).
Conclusion: None of the studied SNPs in vitamin D related and parathyroid hormone genes were associated with NSOC.
期刊介绍：
The Journal of Orofacial Orthopedics provides orthodontists and dentists who are also actively interested in orthodontics, whether in university clinics or private practice, with highly authoritative and up-to-date information based on experimental and clinical research. The journal is one of the leading publications for the promulgation of the results of original work both in the areas of scientific and clinical orthodontics and related areas. All articles undergo peer review before publication. The German Society of Orthodontics (DGKFO) also publishes in the journal important communications, statements and announcements.
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