Interleukin‐1β⁺³⁹⁵³ allele 2: association with disease status in adult periodontitis

Abstract

Adult periodontitis is a complex multifactorial disease whose etiology is not well defined. The pro-inflammatory and bone resorptive properties of interleukin-1 beta (IL-1beta) strongly suggest a role for this cytokine in the pathogenesis of periodontal disease. In the study reported here, the frequency of IL-1beta genotypes including allele 2 of the IL-1beta+3953 restriction fragment length bi-allelic polymorphism was significantly increased in patients with advanced adult periodontitis compared to those with early and moderate disease. Furthermore, allele 2 was associated with increased production of IL-1beta by activated peripheral blood polymorphonuclear cells of patients with advanced disease, although this increase failed to reach statistical significance. Finally, the data obtained revealed significant linkage disequilibrium between allele 2 of the IL-1beta+3953 polymorphism and allele 2 of the bi-allelic IL-1alpha-889 polymorphism in both patients and orally healthy controls. These findings provide new insight into the possible role of IL-1alpha and beta gene polymorphisms in the susceptibility to adult periodontitis.

Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis

“…We tested the following variants by using primer concentrations, optimized thermocycling conditions and gel compositions as already published in the cited literature: IL-1A þ 4845 , 55 IL-1B þ 3954 , 25,26 IL-1B À511, 25,56 and also the minisatellite of IL-1RN intron 2. 57,58 Furthermore, we tested two new SNP variants, the first in the IL-1F5 gene and the second in the TIC (SEC7 homolog) gene, using the single-strand conformational polymorphisms technique (SSCPs).…”

“…18 Recently, some comprehensive and detailed reviews have presented convincing evidence for heritable components of both susceptibility and progression (or severity) of periodontal diseases. [19][20][21][22][23] Many studies have focused on the potential role of several cytokines involved in the inflammatory response, among which some of the most investigated are the IL-1a, IL-1b and IL-1Ra, [24][25][26][27][28] genes which are all located on the long arm of chromosome 2 (region 2q13-14).…”

Genetic polymorphisms in IL-1A and IL-1B isoforms and their associations with chronic periodontitis in the Swahili people of Kenya

“…Purity and concentration of isolated DNA was determined using NanoDrop 2000c spectrophotometer (Thermo Scientific, Waltham, Mass., USA). Genomic DNA from cases and controls were analyzed for polymorphisms within the IL-1A gene loci -889 [20] and +4845 [21] and the IL-1B gene loci -511 [22], and +3954 [23]. PCR reaction conditions were as previously described [24,25].…”

The Role of Genetic Predisposition in Diagnosis and Therapy of Periodontal Diseases in Type 1 Diabetes Mellitus

“…One polymorphism is located at position -899 of the Interleukin 1ά gene, the other at position +3953 of the Interleukin 1β gene. 32,36 Within both polymorphisms allele 1 harbors a cytidin c, whereas allele 2 carries a thymidin (T) at the respective position. Allele 2 of the +3953 polymorphism of the IL-1β gene leads to an alteration of the corresponding protein resulting in an overproduction of IL-1β.…”