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Association of a vitamin D receptor gene polymorphism with localized early-onset periodontal diseases

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


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Background: Early-onset periodontal diseases (EOP) are caused by interactions between host factors, specific microbial pathogens, and environmental factors. It is, therefore, of interest to investigate the nature of host factors as they may provide useful risk markers and reveal important information regarding the disease pathogenesis, Genetic polymorphisms in the vitamin D receptor (VDR) gene are associated with parameters of bone homeostasis and with diseases in which bone loss is a cardinal sign, in particular osteoporosis. Rapidly progressive bone loss is one feature of EOP. We, therefore, sought to determine whether EOP is associated with a polymorphism in the VDR gene. Methods: A restriction fragment length polymorphism (RFLP) for Tag I in exon nine of the VDR gene was analyzed by PCR, followed by restriction digestion with Tag I and gel electrophoresis. We analyzed the genotypes of 69 EOP patients, including 20 patients with unequivocal evidence of localized disease (L-EOP), and 72 controls with no history of EOP. Results: The genotype distribution in the L-EOP patient group was 7 (35%), 5 (25%) and 8 (40%) and in the control group 31 (43.1%), 36 (50.0%) and 5 (6.9%) for TT, Tt and tt respectively (where t and T represent the alleles with and without the Tag I RFLP respectively). chi(2) analysis indicated that the distribution of the genotypes between these two groups was highly significantly different (P = 0.001). Allele frequencies were 47.5% and 52.5% for T and t in the L-EOP group; 68.1% and 31.9% in the control group, showing a significant association between the prevalence of the less frequent allele (t) and L-EOP (P = 0.017). There was no significant difference in the genotype distribution or the allele frequencies between the control samples and the larger EOP patient group (n = 69) which included patients with generalized and localized disease. Conclusions: These data indicate that carriage of the less frequent allele of the Tag I RFLP (t) in the VDR gene significantly increases the risk of developing L-EOP, However, VDR genotype may not affect the incidence of all cases of EOP. These findings contribute to our understanding of the genetic basis for periodontal disease and may help define sub-groups of this disease which share common pathogenic factors.

Publication metadata

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

Publication type: Article

Publication status: Published

Journal: Journal of Periodontology

Year: 1999

Volume: 70

Issue: 9

Pages: 1032-1038

Print publication date: 01/09/1999

ISSN (print): 0022-3492

ISSN (electronic): 1943-3670

Publisher: American Academy of Periodontology


DOI: 10.1902/jop.1999.70.9.1032


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