Evidence map›Paper›PMID 41023292›Full record

ArticleJournal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie2025

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

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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Article in Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Jana MarciniakDepartment of Orthodontics, University Hospital Bonn, Medical Faculty, Welschnonnenstr. 17, 53111, Bonn, Germany. Jana.Marciniak@ukbonn.de.
Gabriela Fonseca-SouzaDepartment of Stomatology, Federal University of Paraná, Curitiba, Paraná, Brazil.
Rafaela ScariotDepartment of Stomatology, Federal University of Paraná, Curitiba, Paraná, Brazil.
Svenja Beisel-MemmertDepartment of Orthodontics, University Hospital Bonn, Medical Faculty, Welschnonnenstr. 17, 53111, Bonn, Germany.
Nikolaos DaratsianosDepartment of Orthodontics, University Hospital Bonn, Medical Faculty, Welschnonnenstr. 17, 53111, Bonn, Germany.
Michelle Nascimento MegerUniversity of Tuiuti of Paraná, Curitiba, Paraná, Brazil.
Thais Vilalba Paniagua Machado do NascimentoUniversity of Tuiuti of Paraná, Curitiba, Paraná, Brazil.
Christian KirschneckDepartment of Orthodontics, University Hospital Bonn, Medical Faculty, Welschnonnenstr. 17, 53111, Bonn, Germany.
Juliana Feltrin-SouzaDepartment of Stomatology, Federal University of Paraná, Curitiba, Paraná, Brazil.
Erika Calvano KüchlerDepartment of Orthodontics, University Hospital Bonn, Medical Faculty, Welschnonnenstr. 17, 53111, Bonn, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveNonsyndromic 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

methodsBrazilian 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

resultsThe 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).

conclusionNone of the studied SNPs in vitamin D related and parathyroid hormone genes were associated with NSOC.

Indexed as

Cleft palateCongenital craniofacial abnormalitiesGenetic polymorphismParathyroid hormoneReal-time polymerase chain reaction

Identifiers

PMID41023292

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.