# E-cadherin Single Nucleotide Variants Are Associated with Increasing Susceptibility to Periodontitis

**Authors:** Nadia M. Kazem, Ali A. Abdulkareem, Paul R. Cooper, Michael R. Milward

PMC · DOI: 10.1055/s-0044-1791683 · European Journal of Dentistry · 2024-11-07

## TL;DR

This study finds that specific genetic variations in the E-cadherin gene are linked to a higher risk of developing periodontitis.

## Contribution

The study identifies specific E-cadherin SNPs (rs3743674 and rs5030625) as novel biomarkers for periodontitis susceptibility.

## Key findings

- Genotypes and alleles of rs3743674 and rs5030625 E-cadherin SNPs are significantly associated with periodontitis.
- Binary regression suggests these SNPs may indicate susceptibility and disease progression rates.
- Linkage disequilibrium analysis shows nonrandom correlation between specific E-cadherin variants.

## Abstract

Objectives
 To investigate the association of
E-cadherin
single nucleotide polymorphisms (SNPs) with periodontitis and the potential of these SNPs for identifying susceptibility to periodontitis.

Materials and Methods
 Periodontal clinical parameters were recorded followed by collecting venous blood for DNA extraction. Polymerase chain reaction was used to amplify target segments of the
E-cadherin
gene. Determination of the genotype and allele frequencies was performed using Sanger sequencing. All statistical analyses were performed using GraphPad Prism (version 9) using a statistically significant difference of
p
 < 0.05.

Results
 A total of 207 participants were recruited into two groups of healthy controls (
n
 = 105) and cases diagnosed with periodontitis stage 2 or 3, grade B or C (
n
 = 102). Analyses indicated that the genotypes and alleles of rs3743674 and rs5030625
E-cadherin
SNPs were significantly associated with periodontitis. Results from a binary regression model suggested that the presence of these SNPs may indicate susceptibility to periodontitis and increase the rate of progression. Linkage disequilibrium analysis indicated that
E-cadherin
variants rs3743674 and rs5030625, and rs10272115 and rs16260 were correlated in a nonrandom manner (
r
2
 = 0.638 and 0.495, respectively).

Conclusion
 E-cadherin gene variants, rs3743674 and rs5030625, were associated with the periodontitis phenotype. These biomarkers may identify individuals susceptible to periodontitis and the rate of disease progression.

## Linked entities

- **Genes:** shg (shotgun) [NCBI Gene 37386]
- **Diseases:** periodontitis (MONDO:0005076)

## Full-text entities

- **Genes:** CDH1 (cadherin 1) [NCBI Gene 999] {aka Arc-1, BCDS1, CD324, CDHE, ECAD, LCAM}
- **Diseases:** Periodontitis (MESH:D010518)
- **Mutations:** rs16260, rs5030625, rs3743674, rs10272115

## Full text

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## References

40 references — full list in the complete paper: https://tomesphere.com/paper/PMC12182394/full.md

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Source: https://tomesphere.com/paper/PMC12182394