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Peer-reviewedCC BYInternational journal of molecular sciences

Association of PTH1R Gene Polymorphisms with Three-Dimensional Mandibular Morphology Across Three Recruitment Cohorts

4 affiliations
  1. 1Department of Orthodontics, School of Dentistry, Kanagawa Dental University, Yokosuka 238-8580, Japan
  2. 2Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Ginowan 903-2720, Japan
  3. 3Department of Orthodontics, School of Dentistry, Pusan National University, Yangsan 50612, Republic of Korea
  4. 4Department of Orthodontics, College of Dentistry, Texas A&M University, Dallas, TX 75246, USA

Abstract

Parathyroid hormone 1 receptor (PTH1R) regulates chondrocyte differentiation and mandibular condylar cartilage development, but its contribution to adult mandibular morphology remains unclear. We investigated associations of two PTH1R single-nucleotide polymorphisms (SNPs), rs724448 and rs2242116, with three-dimensional mandibular morphology in 448 orthodontic patients recruited in Japan (199), Korea (79), and Egypt (170). Salivary DNA was genotyped, and computed tomography images were analyzed using geometric morphometrics and conventional measurements. Multivariate Procrustes analysis evaluated overall mandibular shape. Cohort-specific regressions examined natural-log-transformed centroid size (ln(centroid size)), principal component scores, and conventional measurements, adjusting for sex and age and additionally for imaging modality in Japan. Estimates were combined using inverse-variance fixed-effect meta-analysis. Neither variant showed a significant whole-shape association after correction for two SNP tests. Secondary analyses yielded negative estimates for ln(centroid size) and nominal associations with selected anteroposterior dimensions and cohort-specific principal component scores. None remained significant after either Bonferroni or Benjamini–Hochberg false-discovery-rate correction across 408 tests. These findings provide no statistically robust evidence linking either variant to adult mandibular morphology. Nominal findings require independent replication.

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BibTeX
@article{shin2026association,
  title = {{Association of PTH1R Gene Polymorphisms with Three-Dimensional Mandibular Morphology Across Three Recruitment Cohorts}},
  author = {Dongsan Shin and Ryosuke Kimura and Yong-Il Kim and Mohamed Adel and Seishiro Ueda and Masahiro Takahashi and Yu Hikita and Tetsutaro Yamaguchi},
  journal = {International journal of molecular sciences},
  year = {2026},
  month = oct,
  doi = {10.3390/ijms27198894},
  url = {https://europepmc.org/article/PMC/PMC13665180},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Association of PTH1R Gene Polymorphisms with Three-Dimensional Mandibular Morphology Across Three Recruitment Cohorts
AU  - Dongsan Shin
AU  - Ryosuke Kimura
AU  - Yong-Il Kim
AU  - Mohamed Adel
AU  - Seishiro Ueda
AU  - Masahiro Takahashi
AU  - Yu Hikita
AU  - Tetsutaro Yamaguchi
PY  - 2026
DA  - 2026/10/01
JO  - International journal of molecular sciences
DO  - 10.3390/ijms27198894
UR  - https://europepmc.org/article/PMC/PMC13665180
AB  - Parathyroid hormone 1 receptor (PTH1R) regulates chondrocyte differentiation and mandibular condylar cartilage development, but its contribution to adult mandibular morphology remains unclear. We investigated associations of two PTH1R single-nucleotide polymorphisms (SNPs), rs724448 and rs2242116, with three-dimensional mandibular morphology in 448 orthodontic patients recruited in Japan (199), Korea (79), and Egypt (170). Salivary DNA was genotyped, and computed tomography images were analyzed using geometric morphometrics and conventional measurements. Multivariate Procrustes analysis evaluated overall mandibular shape. Cohort-specific regressions examined natural-log-transformed centroid size (ln(centroid size)), principal component scores, and conventional measurements, adjusting for sex and age and additionally for imaging modality in Japan. Estimates were combined using inverse-variance fixed-effect meta-analysis. Neither variant showed a significant whole-shape association after correction for two SNP tests. Secondary analyses yielded negative estimates for ln(centroid size) and nominal associations with selected anteroposterior dimensions and cohort-specific principal component scores. None remained significant after either Bonferroni or Benjamini–Hochberg false-discovery-rate correction across 408 tests. These findings provide no statistically robust evidence linking either variant to adult mandibular morphology. Nominal findings require independent replication.
SN  - 1422-0067
ER  -