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Related Concept Videos

Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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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,...
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Incomplete Dominance01:43

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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.
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Genome-wide Association Studies-GWAS01:11

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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.
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Related Experiment Video

Updated: Jan 9, 2026

Murine Model of Advanced Periodontitis Induced by Nylon Ligature in the Second Upper Molar
07:14

Murine Model of Advanced Periodontitis Induced by Nylon Ligature in the Second Upper Molar

Published on: May 30, 2025

793

Causal Gene Identification and Biomarker Prioritization in Periodontitis via Integrative Multiomics and Mendelian

Haokun Mo1, Lulu Chen1, Shanshan Ren1

  • 1School of Stomatology, Guizhou Medical University, Guiyang, Guizhou, China.

Mediators of Inflammation
|December 3, 2025
PubMed
Summary

This study identified key genes and biomarkers for periodontitis, a common inflammatory disease. These findings offer new avenues for early diagnosis and personalized treatment strategies for improved oral and systemic health.

Keywords:
Mendelian randomizationSMRWGCNAbiomarkersperiodontitis

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Area of Science:

  • Genomics
  • Immunology
  • Computational Biology

Background:

  • Periodontitis is a prevalent inflammatory condition impacting both oral and overall health.
  • Understanding its molecular underpinnings is crucial for developing effective diagnostic and therapeutic approaches.

Purpose of the Study:

  • To elucidate the molecular mechanisms of periodontitis.
  • To identify potential biomarkers for early diagnosis and precision treatment.

Main Methods:

  • Integrated genome-wide association study (GWAS) and transcriptomic data.
  • Employed Summary data-based Mendelian randomization (SMR) and HEIDI test for gene identification.
  • Utilized weighted gene co-expression network analysis (WGCNA), machine learning, and immune infiltration analysis (CIBERSORT).

Main Results:

  • Identified 294 unique genes associated with periodontitis, enriched in immune and neuronal pathways.
  • Discovered nine disease-related gene modules and five key biomarkers (GPX2, IGKV2D-30, CD34, GSTA4, NYNRIN) with high predictive value.
  • Revealed altered immune cell populations and significant correlations between biomarker expression and immune status.

Conclusions:

  • This multiomics analysis reveals causal genes and robust biomarkers for periodontitis pathogenesis.
  • Findings provide novel insights for early detection and individualized treatment strategies.
  • Further experimental validation is required to confirm functional roles and therapeutic potential.