TY - JOUR A1 - Ernst, Florian D. A1 - Uhr, Katharina A1 - Teumer, Alexander A1 - Fanghänel, Jutta A1 - Schulz, Susanne A1 - Noack, Barbara A1 - Gonzales, Jose A1 - Reichert, Stefan A1 - Eickholz, Peter A1 - Holtfreter, Birte A1 - Meisel, Peter A1 - Linden, Gerard J. A1 - Homuth, Georg A1 - Kocher, Thomas T1 - Replication of the association of chromosomal region 9p21.3 with generalized aggressive periodontitis (gAgP) using an independent case-control cohort T2 - BMC medical genetics N2 - Background: The human chromosomal region 9p21.3 has been shown to be strongly associated with Coronary Heart Disease (CHD) in several Genome-wide Association Studies (GWAS). Recently, this region has also been shown to be associated with Aggressive Periodontitis (AgP), strengthening the hypothesis that the established epidemiological association between periodontitis and CHD is caused by a shared genetic background, in addition to common environmental and behavioural risk factors. However, the size of the analyzed cohorts in this primary analysis was small compared to other association studies on complex diseases. Using our own AgP cohort, we attempted to confirm the described associations for the chromosomal region 9p21.3. Methods: We analyzed our cohort consisting of patients suffering from the most severe form of AgP, generalized AgP (gAgP) (n = 130) and appropriate periodontally healthy control individuals (n = 339) by genotyping four tagging SNPs (rs2891168, rs1333042, rs1333048 and rs496892), located in the chromosomal region 9p21.3, that have been associated with AgP. Results: The results confirmed significant associations between three of the four SNPs and gAgP. The combination of our results with those from the study which described this association for the first time in a meta-analysis of the four tagging SNPs produced clearly lower p-values compared with the results of each individual study. According to these results, the most plausible genetic model for the association of all four tested SNPs with gAgP seems to be the multiplicative one. Conclusion: We positively replicated the finding of an association between the chromosomal region 9p21.3 and gAgP. This result strengthens support for the hypothesis that shared susceptibility genes within this chromosomal locus might be involved in the pathogenesis of both CHD and gAgP. Y1 - 2010 UR - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/7913 UR - https://nbn-resolving.org/urn:nbn:de:hebis:30-78460 SN - 1471-2350 N1 - © 2010 Ernst et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. VL - 11 IS - Art. 119 SP - 1 EP - 9 PB - BioMed Central ; Springer CY - London ; Berlin ; Heidelberg ER -