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Objective <p>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&#xa0;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&#xa0;D levels and parathyroid hormone (PTH) levels are associated with NSOC.</p> Materials and methods <p>Brazilian individuals with NSOC—presenting cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP)—and a&#xa0;comparison group were selected. Individuals’ DNA was obtained from epithelial cells of the oral mucosa. Nine SNPs in five genes (<i>VDR, CYP27B1, CYP24A1, SEC23A</i> and <i>PTH</i>) were selected. Genotyping was performed by real-time polymerase chain reaction (PCR). The association between NSOC and vitamin&#xa0;D related polymorphisms was analyzed by Χ<sup>2</sup>&#xa0;test at a&#xa0;significance level of <i>p</i> &lt; 0.005 (after Bonferroni correction).</p> Results <p>The sample consisted of 274 individuals: 154 NSOC individuals and 120 controls. A&#xa0;total of 43&#xa0;(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 (<i>p</i> &gt; 0.005).</p> Conclusion <p>None of the studied SNPs in vitamin&#xa0;D related and parathyroid hormone genes were associated with NSOC.</p>

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Association between single nucleotide polymorphisms in vitamin D related and parathyroid hormone genes with nonsyndromic oral cleft

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月29日

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  • 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

摘要

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.