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A haplotype block downstream of plasminogen is associated with chronic and aggressive periodontitis
Author(s) -
Munz Matthias,
Chen Hong,
JockelSchneider Yvonne,
Adam Knut,
Hoffman Per,
Berger Klaus,
Kocher Thomas,
Meyle Jörg,
Eickholz Peter,
Doerfer Christof,
Laudes Matthias,
Uitterlinden André,
Lieb Wolfgang,
Franke Andre,
Schreiber Stefan,
Offenbacher Steven,
Divaris Kimon,
Bruckmann Corinna,
Loos Bruno G.,
Jepsen Søeren,
Dommisch Henrik,
Schäefer Arne S.
Publication year - 2017
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.12749
Subject(s) - genotyping , haplotype , linkage disequilibrium , periodontitis , aggressive periodontitis , genome wide association study , genetics , locus (genetics) , medicine , odds ratio , genetic association , chronic periodontitis , genotype , snp , single nucleotide polymorphism , biology , gene
Aim The intronic variant rs4252120 in the plasminogen gene ( PLG ) is known to be associated with aggressive periodontitis (AgP) and atherosclerosis. Here, we examined the chromosomal region spanning PLG for associations with both chronic periodontitis (CP) and AgP. Materials and Methods The association of PLG candidate rs4252120 was tested in a German case–control sample of 1,419 CP cases using the genotyping assay hCV11225947 and 4,562 controls, genotyped with HumanOmni BeadChips. The German and Dutch sample of AgP cases ( N = 851) and controls ( N = 6,836) were genotyped with HumanOmni BeadChips. The North American CP sample ( N = 2,681 cases, 1,823 controls) was previously genotyped on the Genome‐Wide Human SNP Array 6.0. Genotypes were imputed (software Impute v2), and association tests were performed using an additive genetic model adjusting for sex and smoking. Results Rs4252120 was not associated with CP. However, a haplotype block downstream of PLG and not in linkage disequilibrium with rs4252120 ( r 2 = .08) was associated with both AgP (rs1247559; p = .002, odds ratio [OR] = 1.33) and CP ( p = .02, OR = 1.15). That locus was also significantly associated with PLG expression in osteoblasts ( p = 6.9 × 10 −5 ). Conclusions Our findings support a role of genetic variants in PLG in the aetiology of periodontitis.