Genome-wide Association Study for the Identification of Genetic Risk Factors of Periodontitis
识别牙周炎遗传危险因素的全基因组关联研究
基本信息
- 批准号:247442915
- 负责人:
- 金额:--
- 依托单位:
- 依托单位国家:德国
- 项目类别:Research Grants
- 财政年份:2014
- 资助国家:德国
- 起止时间:2013-12-31 至 2017-12-31
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
Periodontitis (PD) is a chronic inflammatory disease of the oral mucosal barrier and the supporting tissues of the teeth. It is classified into the sub-forms chronic periodontitis (CP) and aggressive periodontitis (AgP). Whereas CP is mostly observed in adults and is characterized by a slow progress of the disease, AgP is found in young individuals and is diagnosed based on rapid attachment loss and destruction of the alveolar bone. Several environmental and life-style factors play a significant role in the aetiology of periodontitis, but these factors do not always lead to disease and there are susceptible and tolerant individuals. It is believed that genetic factors play a fundamental role in disease aetiology, particularly in the most severe phenotypes. The genetic basis of PD was demonstrated by formal genetic studies since many years but only a fraction of the heritability has yet been explained. Interestingly, coronary artery disease (CAD) and rheumatoid arthritis (RA) are associated with a higher incidence of PD, and it was suggested that PD may have some causal role. The objective of this research proposal is the elucidation of the genetic architecture of PD and the identification of genetic risk factors of PD, which are shared with CAD or RA. To this end, it is aimed to perform a genome-wide association study (GWAS) with 624 German AgP cases and existing GWAS data-sets of > 6,000 German controls using Illumina OmniExpess Arrays. Significant associations will be selected by genome-wide single-SNP association tests, gene-wide significance tests, and pathway analysis. We will further exploit readily available genotype-data sets of the custom genotyping array Exomechip (Illumina) for 600 German AgP cases and 3,000 German controls, and of various imputed genome-wide association study (GWAS) data sets of CAD and RA. Replication of selected significant SNP associations will be performed in an additional sample of further 600 European AgP cases and in an additional sample of Turkish AgP cases and controls. Replicated single nucleotide polymorphisms (SNPs) associations will be subsequently validated in a German sample of 1,200 CP cases and 2,500 controls. We further aim to identify the putative functional variants by targeted resequencing of selected regions that give the strongest evidence of association. Their role for disease aetiology will subsequently be validated in a large scale replication study in the complete AgP and CP case-control samples. The expected results will be important for the understanding of the disease relevant molecular pathways and for the development of new diagnostic tools and treatment modalities.
牙周炎(Periodontitis,PD)是口腔黏膜屏障和牙齿支持组织的慢性炎症性疾病。它被分为慢性牙周炎(CP)和侵袭性牙周炎(AgP)。CP主要见于成年人,其特征是疾病进展缓慢,而AgP见于年轻人,其诊断基于牙槽骨的快速附着丧失和破坏。一些环境和生活方式因素在牙周炎的病因学中起着重要作用,但这些因素并不总是导致疾病,并且存在易感和耐受个体。据信,遗传因素在疾病病因学中起着重要作用,特别是在最严重的表型中。帕金森病的遗传基础多年来已被正式的遗传学研究所证实,但只有一小部分遗传力尚未得到解释。有趣的是,冠状动脉疾病(CAD)和类风湿性关节炎(RA)与PD的发病率较高,这表明PD可能有一些因果关系。本研究的目的是阐明PD的遗传结构,并确定PD的遗传风险因素,这些因素与CAD或RA相同。为此,其目的是使用Illumina OmniExpess Arrays对624例德国AgP病例和现有的> 6,000例德国对照的GWAS数据集进行全基因组关联研究(GWAS)。将通过全基因组单SNP关联检验、全基因显著性检验和通路分析来选择显著关联。我们将进一步利用600例德国AgP病例和3,000例德国对照的定制基因分型阵列Exomechip(Illumina)的现成基因型数据集,以及CAD和RA的各种插补全基因组关联研究(GWAS)数据集。将在另外600例欧洲AgP病例的额外样本和土耳其AgP病例和对照的额外样本中复制选定的显著SNP关联。重复的单核苷酸多态性(SNPs)关联随后将在德国1,200例CP病例和2,500例对照样本中进行验证。我们进一步的目标是确定推定的功能变异,通过有针对性的重测序的选定区域,给出最强的证据的关联。随后将在完整AgP和CP病例对照样本的大规模复制研究中验证其在疾病病因学中的作用。预期的结果将是重要的疾病相关的分子通路的理解和新的诊断工具和治疗模式的发展。
项目成果
期刊论文数量(5)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci
- DOI:10.1038/s41431-018-0265-5
- 发表时间:2019-01-01
- 期刊:
- 影响因子:5.2
- 作者:Munz, Matthias;Richter, Gesa M.;Schaefer, Arne S.
- 通讯作者:Schaefer, Arne S.
A haplotype block downstream of plasminogen is associated with chronic and aggressive periodontitis
- DOI:10.1111/jcpe.12749
- 发表时间:2017-10-01
- 期刊:
- 影响因子:6.7
- 作者:Munz, Matthias;Chen, Hong;Schaeefer, Arne S.
- 通讯作者:Schaeefer, Arne S.
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Professor Dr. Arne Schäfer其他文献
Professor Dr. Arne Schäfer的其他文献
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{{ truncateString('Professor Dr. Arne Schäfer', 18)}}的其他基金
Direct dissection of genomic features determining transcription factor binding, and systematic characterization of long noncoding RNAs, which are associated with an increased risk of aggressive periodontitis
直接剖析决定转录因子结合的基因组特征,以及长非编码 RNA 的系统表征,这些特征与侵袭性牙周炎的风险增加相关
- 批准号:
396785342 - 财政年份:2017
- 资助金额:
-- - 项目类别:
Research Grants
Identification of genetic risk factors of periodontitis by combined QTL mapping in mice and subsequent genome-wide association analysis, sequencing, and high-throughput genotyping of patients of aggressive periodontitis
通过小鼠 QTL 联合定位以及随后的侵袭性牙周炎患者的全基因组关联分析、测序和高通量基因分型来鉴定牙周炎的遗传危险因素
- 批准号:
262320096 - 财政年份:2014
- 资助金额:
-- - 项目类别:
Research Grants
Genomweite Assoziationsstudie zur Identifikation genetischer Risikofaktoren der Parodontitis
全基因组关联研究以确定牙周炎的遗传危险因素
- 批准号:
164394054 - 财政年份:2010
- 资助金额:
-- - 项目类别:
Research Grants
Functional characterization of the long antisense noncoding RNA CDKN2BAS (ANRIL) and elucidation of the specific role in the pathophysiology of periodontitis
长反义非编码 RNA CDKN2BAS (ANRIL) 的功能表征及其在牙周炎病理生理学中的具体作用的阐明
- 批准号:
81282277 - 财政年份:2008
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-- - 项目类别:
Clinical Research Units
Characterization of host-parasite interactions between the oral mucosa and the protozoan Entamoeba gingivalis that drive tissue invasion, destruction and microbial dysbiosis
口腔粘膜和原生动物牙龈内阿米巴之间驱动组织侵袭、破坏和微生物失调的宿主-寄生虫相互作用的表征
- 批准号:
437460519 - 财政年份:
- 资助金额:
-- - 项目类别:
Research Grants
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