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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Complementation Tests00:49

Complementation Tests

A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Complement System01:27

Complement System

The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a membrane...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Related Experiment Video

Updated: Jun 18, 2026

Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils
07:15

Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils

Published on: January 21, 2020

Single nucleotide polymorphisms of complement component 5 and periodontitis.

L Chai1, Y-Q Song, K-Y Zee

  • 1Faculty of Dentistry, The University of Hong Kong, Hong Kong SAR, China.

Journal of Periodontal Research
|November 14, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variations in the complement component 5 (C5) gene, specifically SNP rs17611, and smoking habits are linked to increased periodontitis risk in Hong Kong Chinese individuals.

Related Experiment Videos

Last Updated: Jun 18, 2026

Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils
07:15

Robust Ligature-Induced Model of Murine Periodontitis for the Evaluation of Oral Neutrophils

Published on: January 21, 2020

Area of Science:

  • Genetics
  • Periodontology
  • Immunology

Background:

  • Host defense gene polymorphisms may influence periodontitis susceptibility.
  • The complement component 5 (C5) gene plays a role in immune responses.

Purpose of the Study:

  • To investigate the association between tagging single nucleotide polymorphisms (SNPs) in the C5 gene and periodontitis.
  • To assess the role of C5 gene variations in a Hong Kong Chinese population.

Main Methods:

  • Genotyping of eleven tagging SNPs in 229 periodontitis patients and 207 controls.
  • Utilized i-plexGOLD MassARRAY mass-spectrometry for SNP analysis.

Main Results:

  • SNP rs17611 (genotype AG) was more frequent in periodontitis patients (54.6%) compared to controls (41.7%).
  • A significant association was found between the CGCA haplotype (comprising rs1035029, rs17611, rs25681, rs992670) and periodontitis (p = 0.001).
  • Smoking was also significantly associated with periodontitis (p = 0.006).

Conclusions:

  • The C5 gene tagging SNP rs17611 may be associated with periodontitis.
  • Smoking is a significant risk factor for periodontitis in this population.