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Validation of reported genetic risk factors for periodontitis in a large‐scale replication study
Author(s) -
Schaefer Arne S.,
Bochenek Gregor,
Manke Thomas,
Nothnagel Michael,
Graetz Christian,
Thien Anneke,
JockelSchneider Yvonne,
Harks Inga,
Staufenbiel Ingmar,
Wijmenga Cisca,
Eberhard Jörg,
GuzeldemirAkcakanat Esra,
Cine Naci,
Folwaczny Mathias,
Noack Barbara,
Meyle Joerg,
Eickholz Peter,
Trombelli Leonardo,
Scapoli Chiara,
Nohutcu Rahime,
Bruckmann Corinna,
Doerfer Christof,
Jepsen Søren,
Loos Bruno G.,
Schreiber Stefan
Publication year - 2013
Publication title -
journal of clinical periodontology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.456
H-Index - 151
eISSN - 1600-051X
pISSN - 0303-6979
DOI - 10.1111/jcpe.12092
Subject(s) - genotyping , periodontitis , genetics , snp , candidate gene , genetic association , confounding , allele , biology , genotype , medicine , gene , single nucleotide polymorphism
Abstract Aim Many studies investigated the role of genetic variants in periodontitis, but few were established as risk factors. We aimed to validate the associations of recent candidate genes in aggressive periodontitis (AgP). Material and Methods We analysed 23 genes in 600 German AgP patients and 1441 controls on the Illumina custom genotyping array Immunochip. We tested a suggestive association in a Dutch and German/Austrian AgP case‐control sample, and a German chronic periodontitis (CP) case‐control sample using Sequenom iPlex assays. We additionally tested the common known risk variant rs1333048 of the gene ANRIL for its association in a Turkish and Italian population. Results None of the analysed genes gave statistical evidence for association. Upon covariate adjustment for smoking and gender, in the pooled German‐Austrian AgP sample, IL 10 SNP rs6667202 was associated with p = 0.016, OR = 0.77 (95% CI = 0.6–0.95), and in the Dutch AgP sample, adjacent IL 10 SNP rs61815643 was associated with p = 0.0009, OR = 2.31 (95% CI = 1.4‐3.8). At rs61815643, binding of the transcription factor PPARG was predicted. ANRIL rs1333048 was associated in the Turkish sample ( p allelic = 0.026, OR = 1.67 [95% CI = 1.11–2.60]). Conclusions Previous candidate genes carry no susceptibility factors for AgP. Association of IL ‐10 rs61815643 with AgP is suggested. ANRIL is associated with periodontitis across different populations.