Related Experiment Video
Updated: May 26, 2026
08:01
Analysis of Developing Tooth Germ Innervation Using Microfluidic Co-culture Devices
Published on: August 14, 2015
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy
Demetris Pillas1, Clive J Hoggart, David M Evans
1Department of Epidemiology and Public Health, Imperial College London, London, United Kingdom.
Plos Genetics
|March 3, 2010
Summary
Genetic variations influence tooth development and eruption timing. This study identified key genes linked to tooth formation, craniofacial development, and even cancer risk, offering insights into developmental anomalies.
Area of Science:
- Genetics
- Developmental Biology
- Human Physiology
Background:
- Tooth development is a heritable process integral to craniofacial complex development.
- Tooth agenesis is a common human developmental anomaly.
- Understanding genetic influences on tooth development is crucial for addressing anomalies.
Purpose of the Study:
- To identify genetic loci associated with tooth eruption time and tooth count.
- To explore the genetic underpinnings of tooth development and its relation to other developmental processes.
- To investigate potential links between tooth development genes and cancer risk or orthodontic needs.
Main Methods:
- Genome-wide association study (GWAS) conducted on two large cohorts: Northern Finland Birth Cohort (NFBC1966) and Avon Longitudinal Study of Parents and Children (ALSPAC).
- Analysis of time to first tooth eruption and number of teeth at one year.
- Statistical analysis to identify significant genetic loci (P<5x10(-8)) and suggestive associations (P<5x10(-6)).
Main Results:
- Identified 5 significant loci and 5 suggestive loci associated with tooth development traits.
- Several identified loci contain genes (e.g., KCNJ2, EDA, HOXB2, RAD51L1, IGF2BP1, HMGA2, MSRB3) known for roles in organ development.
- Genes at four loci are implicated in cancer development.
- A HOXB gene variant is linked to occlusion defects requiring orthodontic treatment.
Conclusions:
- This GWAS reveals significant genetic loci influencing human tooth eruption and number.
- The findings highlight the genetic overlap between tooth development, craniofacial growth, and cancer predisposition.
- Genetic variants in HOXB are associated with occlusion defects, suggesting implications for orthodontic treatment.
Related Concept Videos
01:18Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
01:33Pleiotropy
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,...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:15Teeth
The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
01:21Tooth Anatomy
The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or grinding food.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or grinding food.
01:28Development of the Oral Microbiota
The establishment of the oral microbiome begins before birth, challenging the long-held belief that the fetal oral cavity is sterile. The presence of oral microbes such as Streptococcus and Fusobacterium in amniotic fluid suggests that microbial exposure may occur in utero, potentially through translocation from the maternal oral or gastrointestinal tract. This early colonization primes the neonatal immune system and sets the stage for subsequent microbial succession. Maternal health,...