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Association of Interleukin-1B Gene Polymorphisms and Haplotype Structure with Peridontitis

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Research Scholar

Pinar Emecen, Department of Periodontology
Angelo Mariotti, Faculty advisor
Sung Jin Ming, Co-Researcher
Ozlem Ozer Yucel, Co-Researcher
Engin Yilmaz, Co-Researcher
Rahime M. Nohutzu, Co-Researcher
John D. Walters, Co-Researcher

Biography

Pınar EmecenDr. Pınar Emecen was born and raised in Ankara, Turkey. She graduated from Hacettepe University, Faculty of Dentistry in 1998. She continued her periodontal training between 1999-2005 at the same college in the Department of Periodontology where she received her certificate and PhD. She is currently working in the OSU College of Dentistry, Department of Periodontology as a Visiting Professor. Her research interests are periodontal pathogenesis, host response and periodontal regeneration.

What is the issue or problem addressed in your research?

Interleukin-1 (IL-1) is a well established cytokine that plays a central role in periodontal disease pathogenesis. IL-1 gene polymorphisms is reportedly related with the onset and severity of periodontitis. Recent studies suggest that analysis of IL-1B gene haplotypes can provide an understanding of of IL-1B gene regulation and its clinical relevance. This case-control study investigated associations of IL-1B gene polymorphisms and haplotypes with generalized aggressive (GAP) and generalized chronic periodontitis (GCP) in a Turkish population.

What methodology did you use in your research?

Fifty-two GAP, 53 GCP patients and 42 HC individuals were genotyped for IL-1B -31 T>C, IL-1B -511 C>T and IL-1B +3954 C>T gene polymorphisms by polymerase chain reaction (PCR) amplification followed by restriction enzyme digestion and gel electrophoresis. Differences in genotyping between groups were detected using an exact chi-square test. The different haplotypes and distribution of haplotype frequencies between groups were determined using the HelixTree software trial package where the Expectation-Maximization algorithm was used.

What are the purpose/rationale and implications of your research?

The significance of the association between each of the three IL-1b SNPs and the case/control status was examined.  The -31T>C and -511C>T SNPs exhibited a significant association with GAP cases (P = 0.024 and P = 0.017, respectively), but there was no apparent association between +3954C>T and GAP. There was an over-representation of -31C and -511T in the GAP case group relative to the control group, but the differences between the case and control groups were not statistically significant (P=0.13 and P=0.063, respectively). None of these SNPs exhibited a significant association with GCP. The four most common haplotypes found in all groups were -31C/-511T/+3954C, -31T/-511C/+3954C, -31T/,-511C/+3954T and -31C/-511T/+3954T.  The most common haplotype in the GCP group and the control group was -31T/-511C/+3954C, while the most common haplotype in the GAP group was -31C/-511T/+3954C.  In both the GAP and the GCP groups, no haplotypes had significantly different frequency from the control group when comparing a 95% confidence interval range of EM frequencies.

Polymorphisms in IL-1B -31 and -511 may contribute to the risk of developing GAP, while IL-1B +3954 polymorphisms do not appear to be associated with an increased risk of developing periodontitis in a Turkish population.  From the haplotype analysis, none of the detected haplotypes was significantly associated with periodontitis risk, even though haplotypes with -31C and -511T exhibited higher frequencies in the GAP group.  Further haplotype analysis with other SNPs in IL-1B is recommended due to the possibility that the causative agents throughout the IL-1 cluster on the 2q.13 region may have a tight linkage disequilibrium with -31C and -511T.

 


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