Objectives: Pathogenesis of Early Onset Periodontitis (EOP) has been shown multifactorial; however, the genetic basis has not been clearly defined. The interleukin-1 (IL-1) gene cluster polymorphisms have been associated with different forms of inflammatory periodontal disease, particularly chronic periodontitis. The aim of this study was to explore the genotypic and allelic frequencies of single nucleotide polymorphisms (SNPs) in the genes encoding IL-1α, IL-1β and a variable number of tandem repeat (VNTR) polymorphism of IL-1 receptor antagonist gene (IL-1RN) in a Caucasian Italian EOP population. Methods: 40 EOP patients and 96 periodontally healthy controls were included. All subjects were systemically healthy, EOP was diagnosed according to established clinical criteria (Tonetti & Mombelli, 1999). SNPs in the IL-1α (+4845) and IL-1β (-511, +3954) genes were analyzed by amplifying the polymorphic region using polymerase chain reaction (PCR), followed by restriction-enzyme digestion and agarose gel electrophoresis. IL-1RN (VNTR) polymorphisms were then detected by PCR amplification and fragment size analysis. Results: The genotype distribution of IL-1RN (VNTR) was found significantly different between EOP patients and healthy controls (p = 0.036). The allelic distribution of IL-1β (+3954) in the two groups was slightly different (p = 0.057) but no difference in the genotype frequencies was observed. In contrast, there were no significant differences in the IL-1α (+4845) and IL-1β (-511) genotypes and allele frequencies between groups. Conclusion: These findings suggest, for the present population, a possible role for IL-1RN (VNTR) polymorphisms in the pathogenesis of EOP

Association of IL-1 gene cluster polymorphisms with early onset periodontitis in an Italian Caucasian population.

SCAPOLI, Chiara;MAMOLINI, Elisabetta;TROMBELLI, Leonardo
2003

Abstract

Objectives: Pathogenesis of Early Onset Periodontitis (EOP) has been shown multifactorial; however, the genetic basis has not been clearly defined. The interleukin-1 (IL-1) gene cluster polymorphisms have been associated with different forms of inflammatory periodontal disease, particularly chronic periodontitis. The aim of this study was to explore the genotypic and allelic frequencies of single nucleotide polymorphisms (SNPs) in the genes encoding IL-1α, IL-1β and a variable number of tandem repeat (VNTR) polymorphism of IL-1 receptor antagonist gene (IL-1RN) in a Caucasian Italian EOP population. Methods: 40 EOP patients and 96 periodontally healthy controls were included. All subjects were systemically healthy, EOP was diagnosed according to established clinical criteria (Tonetti & Mombelli, 1999). SNPs in the IL-1α (+4845) and IL-1β (-511, +3954) genes were analyzed by amplifying the polymorphic region using polymerase chain reaction (PCR), followed by restriction-enzyme digestion and agarose gel electrophoresis. IL-1RN (VNTR) polymorphisms were then detected by PCR amplification and fragment size analysis. Results: The genotype distribution of IL-1RN (VNTR) was found significantly different between EOP patients and healthy controls (p = 0.036). The allelic distribution of IL-1β (+3954) in the two groups was slightly different (p = 0.057) but no difference in the genotype frequencies was observed. In contrast, there were no significant differences in the IL-1α (+4845) and IL-1β (-511) genotypes and allele frequencies between groups. Conclusion: These findings suggest, for the present population, a possible role for IL-1RN (VNTR) polymorphisms in the pathogenesis of EOP
Scapoli, Chiara; Mamolini, Elisabetta; Trombelli, Leonardo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/471478
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