Related Experiment Video
Updated: Apr 19, 2026
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
10.6K
PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis.
1Department of Orthodontics, Hospital of Stomatology, China Medical University, Shenyang, Liaoning, China.
Genetics and Molecular Research : GMR
|December 16, 2014
Summary
Genetic variations in the paired box 9 (PAX9) gene are linked to tooth agenesis. Three PAX9 gene sites increase hypodontia risk, while one may offer protection.
Area of Science:
- Genetics
- Dental Anthropology
- Human Genetics
Background:
- Tooth agenesis, a common dental anomaly, affects tooth development.
- The paired box 9 (PAX9) gene plays a crucial role in tooth formation.
- Understanding genetic factors like PAX9 polymorphisms is vital for diagnosing and managing tooth agenesis.
Purpose of the Study:
- To conduct a comprehensive meta-analysis evaluating the association between PAX9 gene polymorphisms and tooth agenesis in humans.
- To identify specific PAX9 genetic variants that contribute to or protect against hypodontia.
Main Methods:
- A meta-analysis of 6 case-control studies was performed.
- Included 855 hypodontia cases and 1201 healthy controls.
- Analyzed various single nucleotide polymorphisms (SNPs) within the PAX9 gene.
Main Results:
- The G allele of A1031G, T allele of C912T, and rs12881240 in PAX9 were associated with increased hypodontia susceptibility.
- No significant association was found for 718C, IVS2-109, rs4904210, and rs7143727.
- The genotype (AG + GG) of IVS2-54 showed a protective effect against oligodontia (OR=0.21).
Conclusions:
- Four genetic sites in the PAX9 gene are implicated in hypodontia.
- Three identified PAX9 polymorphisms act as risk factors for tooth agenesis.
- One PAX9 polymorphism (IVS2-54) may confer a protective role against oligodontia.
More Related Videos
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
14.5K
08:03Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
435
Related Concept Videos
01:15Teeth
2.4K
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...
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...
2.4K
01:33Pleiotropy
44.4K
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,...
44.4K
01:43Incomplete Dominance
32.9K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.9K
02:41Lethal Alleles
20.0K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
20.0K
01:05Single Nucleotide Polymorphisms-SNPs
20.4K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
20.4K
02:30Genomic Imprinting and Inheritance
39.7K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
39.7K