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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Single Nucleotide Polymorphisms-SNPs01:05

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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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Related Experiment Video

Updated: Jul 21, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Genome-wide Association Study Identifies Novel Risk Loci for Apical Periodontitis.

Lauren E Petty1, Renato Silva2, Leticia Chaves de Souza3

  • 1Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee.

Journal of Endodontics
|July 27, 2023
PubMed
Summary
This summary is machine-generated.

This genome-wide study identified new genes linked to apical periodontitis (AP) and revealed sex-specific genetic risks. It also found connections between AP and other systemic conditions, highlighting host genetic influences.

Keywords:
Gene associationperiapical lesionpulp necrosissusceptibility

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Area of Science:

  • Genetics
  • Oral Biology
  • Periodontology

Background:

  • Apical periodontitis (AP) results from root canal infections, causing bone loss.
  • Host genetics and microbial factors influence AP development, but genome-wide insights are limited.
  • This is the first genome-wide association study (GWAS) investigating AP.

Purpose of the Study:

  • To conduct the first GWAS for apical periodontitis (AP).
  • To identify novel genetic loci associated with AP susceptibility.
  • To explore sex-specific and systemic associations with AP risk.

Main Methods:

  • A GWAS was performed on 932 adults with AP (cases) and controls.
  • Genotyping used the Illumina Expanded Multi-Ethnic Genotyping Array (MEGA).
  • Analyses included single-variant, subphenotype, gene expression, polygenic risk scores, and phenome-wide association studies (PheWAS).

Main Results:

  • Eight loci showed near genome-wide significant association with AP.
  • Three previously reported AP associations were replicated.
  • Sex-specific analyses, gene-based analyses (8 genes), and PheWAS (33 phecodes) revealed additional significant associations.

Conclusions:

  • Novel genes and loci contributing to AP susceptibility were identified.
  • Specific genetic contributions to AP risk in males and females were elucidated.
  • AP risk is associated with systemic conditions, supporting host-mediated effects.