Related Experiment Video
Updated: Jan 8, 2026
09:26
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
10.2K
Variants Near NOG and SOX9 Are Associated with Mandibular Retrognathia
E Juuri1,2, S Strausz1,2,3,4, Md R Hasan1
1Orthodontics, Deparment of Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Journal of Dental Research
|December 17, 2025
Summary
Genetic factors contribute to mandibular retrognathia, a common craniofacial anomaly. Genome-wide association studies identified key genetic loci, particularly in females, highlighting the role of NOG and SOX9 in development.
Area of Science:
- Genetics
- Craniofacial Biology
- Human Development
Background:
- Mandibular retrognathia is a common craniofacial anomaly affecting oral function and aesthetics.
- Its hereditary component is recognized, but the precise genetic etiology remains poorly understood.
- Understanding the genetic basis is crucial for elucidating causes and potential interventions.
Purpose of the Study:
- To identify genetic loci associated with mandibular retrognathia.
- To elucidate the underlying genetic causes of this skeletal anomaly.
- To explore the role of regulatory elements in craniofacial development.
Main Methods:
- Genome-wide association study (GWAS) using the FinnGen cohort (2,647 cases, 497,020 controls).
- Replication analysis in an independent Icelandic cohort.
- Functional annotation of single-nucleotide polymorphisms (SNPs) and morphological analysis in Nog knockout mice.
Main Results:
- GWAS identified two significant loci: NOG (rs227727) and SOX9 (rs7225448), primarily in females.
- rs227727 disrupts an enhancer regulating NOG, a gene crucial for bone and cartilage development.
- Nog knockout mice exhibited mandibular retrognathia-like features; SOX9 variants were near regulatory elements essential for cartilage development.
- Regional prevalence of mandibular retrognathia in Finland correlated with the rs227727 risk allele.
Conclusions:
- Genetic factors, including regulatory elements near NOG and SOX9, contribute significantly to mandibular retrognathia.
- The findings underscore the importance of long-range regulatory elements in craniofacial development.
- Integration of genetic, functional, and epidemiological data advances understanding of craniofacial anomaly genetics.
More Related Videos
Related Concept Videos
01:33Pleiotropy
43.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.1K
01:40Bone Remodeling
40.2K
Bone remodeling is a continuous and balanced process of bone resorption by osteoclasts and bone formation by osteoblasts. In adults, it helps maintain bone mass and calcium homeostasis. While mechanical stress can stimulate turnover as part of the normal maintenance and reparative process, several hormones also regulate bone remodeling.
40.2K
01:27Cranial Bones: Lateral View
4.3K
The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...
4.3K
01:14Cranial Bones: Superior and Posterior View
4.8K
The superior view of the cranium shows the frontal and paired parietal bones.
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
4.8K
01:22Sutures of the Skull
9.9K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
9.9K
01:29Bone Formation by Intramembranous Ossification
10.0K
Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
10.0K