Evidence map›Paper›PMID 42608699›Full record

ArticleHead & face medicine2026

Exploring the association between genetic polymorphisms in FGFR2 and children's facial morphology.

Christian Rinnert, Svenja Beisel-Memmert, Peter Proff, Cristiano Miranda de Araujo, Maria Julia Pugsley Baratto, Camila Paiva Perin, Juliane Corá, Christian Kirschneck, Erika Calvano Küchler

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Article in Head & face medicine, 2026. 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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5 · Who and what money

Authors and funding

9 authors.

Christian RinnertDepartment of Orthodontics, Medical Faculty, University Hospital Bonn, University of Bonn, Welschnonnenstr. 17, Bonn, 53111, Germany.
Svenja Beisel-MemmertDepartment of Orthodontics, Medical Faculty, University Hospital Bonn, University of Bonn, Welschnonnenstr. 17, Bonn, 53111, Germany.
Peter ProffDepartment of Orthodontics, Medical Faculty, University of Regensburg, Regensburg, Germany.
Cristiano Miranda de AraujoSchool of Dentistry, University of Tuiuti of Paraná, Curitiba, Brazil.
Maria Julia Pugsley BarattoDepartment of Orthodontics, Medical Faculty, University Hospital Bonn, University of Bonn, Welschnonnenstr. 17, Bonn, 53111, Germany.
Camila Paiva PerinSchool of Dentistry, University of Tuiuti of Paraná, Curitiba, Brazil.
Juliane CoráSchool of Dentistry, University of Tuiuti of Paraná, Curitiba, Brazil.
Christian KirschneckDepartment of Orthodontics, Medical Faculty, University Hospital Bonn, University of Bonn, Welschnonnenstr. 17, Bonn, 53111, Germany.
Erika Calvano KüchlerDepartment of Orthodontics, Medical Faculty, University Hospital Bonn, University of Bonn, Welschnonnenstr. 17, Bonn, 53111, Germany. erika.kuchler@ukbonn.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundStudies on animal models and fibroblast growth factor receptor (FGFR2)-associated craniosynostosis syndromes suggest that FGFR2 plays a crucial role in craniofacial development. Therefore, the present exploratory study aims to investigate the relationship between functional genetic polymorphisms of FGFR2 and variations in facial morphology.

methodsFrontal and lateral photographs of healthy boys (aged 9 to 14 years) and girls (aged 9 to 13 years), taken before the start of orthodontic treatment, were used for the study. Saliva samples from the patients were also analyzed. Patients with syndromes, skull trauma, or cleft lip and palate were excluded from the study. The measurements and determinations of proportions were performed using the Image J image processing program. DNA was extracted from the saliva samples to investigate seven genetic polymorphisms in FGFR2 using real-time PCR (rs2162540, rs2981578, rs10736303, rs1078806, rs11200014, rs1219648, and rs4752566). ANOVA and t-tests were used to investigate the relationship between the genotypes and the horizontal as well as lateral facial proportions.

resultsA total of 102 children (60 boys and 42 girls) were included in the analysis. No significant sex-related differences in relative facial dimensions or angles were observed. FGFR2 polymorphisms were significantly associated with distinct facial parameters. The rs10736303 variant was associated with frontal facial proportions related to the eye and midface region, with larger relative dimensions observed in carriers of the AA genotype compared to the AG genotype. The rs2162540 polymorphism was associated with lateral profile measurements, including the relative vermilion height of the lower lip and the mentolabial angle. In addition, rs11200014 showed a significant association with the mentolabial angle, with larger angles observed in AA genotype carriers.

conclusionThis exploratory study suggested that FGFR2 polymorphisms may be involved in specific facial parameters, supporting a role of FGFR2 in facial development.

Indexed as

FacePolymorphism, GeneticPolymorphism, Single NucleotideReceptor, Fibroblast Growth Factor, Type 2AdolescentCephalometryChildFemaleGenotypeHumansMaleReal-Time Polymerase Chain ReactionFGFR2 protein, humanReceptor, Fibroblast Growth Factor, Type 2Facial MorphologyFGFR2PhotogrammetryPolymorphism

Identifiers

PMID42608699
PMCPMC13479409

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