Zygogianni, Penelope; (2003) A comparative genetic association study of aggressive and chronic periodontitis. Doctoral thesis (Ph.D), UCL.

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Abstract

Periodontitis is caused by interactions between host factors, specific microbial pathogens, and environmental factors. The pathogenic process differs in extent and severity within individuals because of multifactorial reasons, which are considered to have a substantial genetic basis. Functional changes in the immunoregulatory genes may result in changes in the levels and activities of the gene products, which may influence the susceptibility, the age of onset and the severity of the disease. The aim of present study is to investigate both the possible association between the IL-1A (-889), IL-1B (-511), IL-1B (+3954), IL-1RN (intron 2), IL-6 (-174), IL-10 (-627 and -1082) TNF? (-308), VDR (+1056) and TLR4 (Asp299Gly and Thr399Ile) functional polymorphisms and periodontitis (Aggressive and Chronic) and the possible differences in allele and genotype variations between patients with aggressive and chronic periodontitis. DNA was obtained from 95 (53 Caucasians) patients with aggressive periodontitis (AGP), 86 (57 Caucasians) with chronic periodontitis (CP) and 100 Caucasian controls (Con) and used in a genetic association study. The DNA was used to determine the genotype of patients and controls for all the above polymorphisms. The data were analysed using CLUMP and odds ratio analysis, for the allele and genotype distributions. Statistically significant results for the Caucasian group were obtained for: IL-1 (-889) [AGP v CP, T, p=0.001; T4 p=0.001], IL-IB +3954 [AGP v Con, T1, p=0.012; T4 p=0.028,]; IL-6 [AGP v Con T1 p=0.02; T4 p=0.015: CP v Con T1 p-0.021; T4 p=0.015]; VDR [CP v Con T1 p=0.01; T4 p=0.01]; TLR4 [(Perio v Con, T1 p=0.002; T4 p=0.002]. These results show that there are functional variations in several genes involved in the periodontal diseases and that there are different genetic backgrounds underlying the diagnosis of the two forms of periodontal disease (AGP+CP) examined.

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