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Association of interleukin-1 gene polymorphisms with early-onset periodontitis

Lookup NU author(s): Judith Parkhill, Professor Peter Heasman, Dr John TaylorORCiD


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Background, aims: Early onset periodontal diseases (EOP) are a group of inflammatory disorders characterised by a rapid rate of periodontal tissue destruction, in young individuals who are otherwise healthy. There is now substantial evidence to suggest that genetic factors play a rôle in the pathogenesis of EOP but the precise nature of these factors remains unclear. Polymorphisms in cytokine genes which may underpin inter-individual differences in cytokine synthesis and secretion have been associated with other diseases which have an inflammatory pathogenesis, including chronic adult periodontal disease (CAPD). Method: We therefore investigated the frequency of polymorphisms in the genes encoding interleukin-1β (IL-1β) and its receptor antagonist (IL-1RA) in 70 EOP patients, including a subgroup of 21 localised EOP (L-EOP) patients and 72 periodontally healthy controls. All subjects were of Caucasian heritage and systemically healthy. A single nucleotide polymorphism (SNP) in exon 5 of the IL-1β gene (IL-1β+3953) was analysed by amplifying the polymorphic region using PCR, followed by restriction digestion with Taq1 and gel electrophoresis. Results: The frequency of IL-1β genotypes homozygous for allele 1 (corresponding to the presence of a restriction site) of the IL-1β+3953 SNP was found to be significantly increased in EOP patients (χ2 test, p=0.025). Upon stratification for smoking status a significant difference was found in the IL-1β genotype distribution between EOP smokers compared to control smokers (F-exact test, p=0.02), but not between EOP non-smokers and control non-smokers. The IL-1β 1/1 genotype occurred at a higher frequency in EOP smokers (odds ratio=4.9) compared to control smokers. A variable number tandem repeat polymorphism (VNTR) in intron 2 of the IL-1RA gene was analysed by amplifying the polymorphic region using PCR and fragment size analysis by gel electrophoresis. There was no evidence for an association of an IL-1RA genotype with EOP. However the combination of IL-1β allele 1 and IL-1RA allele 1 (corresponding to 4 repeats) was associated with EOP (Clump, p=0.01). Conclusions: These findings suggest that an IL-1β genotype in combination with smoking, and a combined IL-1β and IL-1RA genotype are risk factors for EOP and support a role for genetic and environmental factors in susceptibility to EOP. © Munksgaard, 2000.

Publication metadata

Author(s): Heasman PA; Parkhill JM; Taylor JJ; Hennig BJW; Chapple ILC

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Periodontology

Year: 2000

Volume: 27

Issue: 9

Pages: 682-689

ISSN (print): 0303-6979

ISSN (electronic): 1600-051X

Publisher: John Wiley & Sons


DOI: 10.1034/j.1600-051x.2000.027009682.x

PubMed id: 10983602


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