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

IF 1.6 4区医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE

Journal of Orofacial Orthopedics-Fortschritte Der Kieferorthopadie Pub Date : 2025-09-29 DOI:10.1007/s00056-025-00614-w

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

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引用次数: 0

Abstract

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.

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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。

目的：非综合征性唇腭裂（NSOC）是由原发性和继发性腭裂发育障碍引起的，分为唇裂（CL）、唇腭裂（CLP）和腭裂（CP）。NSOC是一种具有复杂遗传异质性背景的疾病，可能涉及多个基因。因此，本研究调查了可能影响维生素D水平和甲状旁腺激素（PTH）水平的基因中的功能性单核苷酸多态性（snp）是否与NSOC相关。材料和方法：选取巴西nsoc型唇裂（CL）、唇腭裂（CLP）和腭裂（CP）患者作为对照组。从口腔黏膜上皮细胞中获得个体DNA。5个基因（VDR、CYP27B1、CYP24A1、SEC23A和PTH）共9个snp。采用实时聚合酶链反应（PCR）进行基因分型。通过Χ2检验分析NSOC与维生素D相关多态性的相关性，p的显著性水平为 。结果：样本包括274例个体，其中NSOC个体154例，对照组120例。共有43例（27.9%）患有CL， 91例（59.1%）患有CLP， 20例（13.0%）患有CP。经Bonferroni校正后，没有一个snp与NSOC相关（p > 0.005）。结论：所研究的维生素D相关基因和甲状旁腺激素基因的snp均与NSOC无关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Orofacial Orthopedics-Fortschritte Der Kieferorthopadie 医学-牙科与口腔外科

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

>12 weeks

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.