Related Experiment Video
Updated: Oct 30, 2025

07:15
Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils
Published on: January 21, 2020
11.8K
Mendelian randomization analysis identified genes potentially pleiotropically associated with periodontitis
Feng Wang1, Di Liu2, Yong Zhuang3
1Department of Stomatology, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, China.
Saudi Journal of Biological Sciences
|July 5, 2021
Summary
This study identified genes potentially causing periodontitis using Mendelian randomization. Findings highlight genes like PDCD2, BX093763, and AC104135.3, offering therapeutic targets for periodontitis treatment.
Area of Science:
- Genetics
- Periodontology
- Biostatistics
Background:
- Periodontitis is a complex inflammatory disease with a significant genetic component.
- Understanding the genetic underpinnings of periodontitis is crucial for developing effective treatments.
- Pleiotropic gene associations offer insights into disease mechanisms.
Purpose of the Study:
- To identify genes with pleiotropic or causal associations with periodontitis.
- To prioritize candidate genes for further investigation into periodontitis pathogenesis.
- To discover potential therapeutic targets for periodontitis.
Main Methods:
- Applied the summary data-based Mendelian randomization (SMR) method.
- Integrated genome-wide association study (GWAS) data for periodontitis with expression quantitative trait loci (eQTL) data.
- Performed SMR analysis using CAGE and GTEx eQTL data across European and East Asian ancestries.
Main Results:
- Identified multiple genes associated with periodontitis in both European and East Asian ancestries.
- Top hit in Europeans (CAGE eQTL): PDCD2.
- Top hits in East Asians (CAGE eQTL): BX093763; (GTEx eQTL): AC104135.3.
Conclusions:
- Multiple genes implicated in periodontitis pathogenesis across different ancestries.
- Findings provide crucial insights into periodontitis mechanisms.
- Identified potential therapeutic targets for periodontitis treatment.
Keywords:
Expression quantitative trait lociGO, Gene ontologyGWAS, Genome-wide association studiesHEIDI, Heterogeneity in dependent instrumentsIVs, Instrumental variablesKEGG, Kyoto Encyclopedia of Genes and GenomesLD, Linkage disequilibriumMR, Mendelian randomizationPeriodontitisPleotropic associationSMR, Summary data-based Mendelian randomizationSummary Mendelian randomizationeQTL, expression quantitative trait lociRelated Concept Videos
Genome-wide Association Studies-GWAS
14.8K
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...
14.8K
Epistasis Analysis
5.4K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.4K
Single Nucleotide Polymorphisms-SNPs
17.1K
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,...
17.1K
Pleiotropy
41.8K
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,...
41.8K
Incomplete Dominance
28.2K
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.
28.2K
Polygenic Traits
67.3K
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...
67.3K

