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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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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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Genome-wide association studies on periodontitis: A systematic review.

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Genome-wide association studies (GWAS) for periodontitis reveal numerous genetic risk variants but show high heterogeneity. Standardized methods are needed for reliable identification of periodontitis genetic risk factors.

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Area of Science:

  • Genetics
  • Periodontology
  • Bioinformatics

Background:

  • Periodontitis is a complex inflammatory disease with a significant genetic component.
  • Genome-wide association studies (GWAS) are crucial for identifying genetic risk variants.
  • Understanding the genetic architecture of periodontitis is essential for developing targeted prevention and treatment strategies.

Purpose of the Study:

  • To systematically review and critically appraise existing GWAS on periodontitis.
  • To synthesize findings on genetic risk variants associated with periodontitis from included GWAS.
  • To assess the quality and identify commonalities and differences in GWAS methodologies for periodontitis.

Main Methods:

  • Systematic literature search conducted across major databases (PubMed, GWAS Catalog, MEDLINE, EMBASE).
  • Inclusion criteria focused on GWAS exploring single-nucleotide polymorphisms (SNPs) associated with periodontitis.
  • Quality assessment using the Q-genie tool; extraction of study characteristics and significant SNPs.

Main Results:

  • Fifteen good-quality GWAS on periodontitis were included, exhibiting significant methodological heterogeneity.
  • Eleven risk SNPs identified at conventional GWAS significance (p<5x10-8) and 41 at suggestive significance (p<5x10-6).
  • No common SNPs were found across all studies; three SNPs (rs4284742, rs11084095, rs12461706) in the SIGLEC5 gene region were identified in large studies.

Conclusions:

  • GWAS for periodontitis are characterized by high methodological heterogeneity, complicating the identification of reliable risk SNPs.
  • Limited SNP statistics and lack of standardization hinder progress in understanding periodontitis genetics.
  • Clear guidelines and data sharing requirements are needed in dental research to improve the quality and comparability of GWAS findings.