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Updated: Jul 18, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Advance in candidate genes in mandibular retrognathism: A systematic review
Li Yang1, Weiping Yang2, Yining Shen1
1School and Hospital of Stomatology, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Objective:
This research aims to dissect the polygenic nature of non-syndromic mandibular retrognathism (MR) and to better understand the genetic underpinnings of MR, with a particular focus on the role of ethnic diversity in influencing genetic predispositions.
Methods:
A comprehensive systematic review was conducted on MR. Electronic databases such as PubMed and Google Scholar were employed, utilizing terms like 'mandibular', 'retrognathism', 'gene', and 'genetic'. This study strictly adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework.
Results:
Ten genetic studies were identified that satisfied the eligibility criteria, involving 1010 participants. Variations in candidate genes were reported across different populations, including myosin 1 H (MYO1H), matrilin 1 (MATN1), a disintegrin and metalloproteinase with thrombospondin motifs 9 (ADAMTS9), bone morphogenetic protein 2 (BMP2), parathyroid hormone (PTH), the vitamin-D related genes: vitamin D receptor (VDR), cytochrome P450 family 24 subfamily A member 1 (CYP24A1), and cytochrome P450 family 27 subfamily B member 1 (CYP27B1), collagen type II alpha 1 chain (COL2A1), transforming growth factor-β (TGF-β), TGF-β receptor 2 (TGFBR2), epidermal growth factor (EGF), and EGF receptor gene (EGFR).
Conclusion:
These findings shed light on the role of genetic factors in MR. Future studies should adopt a multicentric approach to expand sample sizes and enhance the analysis of genetic variants associated with MR.
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