Search

Your search keyword '"Schaefer, Arne S."' showing total 149 results
Start Over Author "Schaefer, Arne S."
149 results on '"Schaefer, Arne S."'

3. Oral microbiota of patients with phenylketonuria: A nation‐based cross‐sectional study

Author

Bingöl, Memduh, primary, Cardilli, Alessio, additional, Bingöl, Anne Carolin, additional, Löber, Ulrike, additional, Bang, Corinna, additional, Franke, Andre, additional, Bartzela, Theodosia, additional, Beblo, Skadi, additional, Mönch, Eberhard, additional, Stolz, Simone, additional, Schaefer, Arne S., additional, Forslund, Sofia Kirke, additional, and Richter, Gesa M., additional

Published
2024
Full Text
View/download PDF

5. A genome‐wide association study meta‐analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci.

Author

De Almeida, Silvia Diz, Richter, Gesa M., de Coo, Alicia, Jepsen, Søren, Kapferer‐Seebacher, Ines, Dommisch, Henrik, Berger, Klaus, Laudes, Matthias, Lieb, Wolfgang, Loos, Bruno G., van der Velde, Nathalie, van Schoor, Natasja, de Groot, Lisette, Blanco, Juan, Carracedo, Angel, Cruz, Raquel, and Schaefer, Arne S.

Subjects
WOUND healing, GENOME-wide association studies, META-analysis, DESCRIPTIVE statistics, GUIDED tissue regeneration, AGGRESSIVE periodontitis, GENETIC variation, AGE factors in disease, INFLAMMATION, ORAL health, PHENOTYPES
Abstract

Aim: Few genome‐wide association studies (GWAS) have been conducted for severe forms of periodontitis (stage III/IV grade C), and the number of known risk genes is scarce. To identify further genetic risk variants to improve the understanding of the disease aetiology, a GWAS meta‐analysis in cases with a diagnosis at ≤35 years of age was performed. Materials and Methods: Genotypes from German, Dutch and Spanish GWAS studies of III/IV‐C periodontitis diagnosed at age ≤35 years were imputed using TopMed. After quality control, a meta‐analysis was conducted on 8,666,460 variants in 1306 cases and 7817 controls with METAL. Variants were prioritized using FUMA for gene‐based tests, functional annotation and a transcriptome‐wide association study integrating eQTL data. Results: The study identified a novel genome‐wide significant association in the FCER1G gene (p = 1.0 × 10−9), which was previously suggestively associated with III/IV‐C periodontitis. Six additional genes showed suggestive association with p < 10−5, including the known risk gene SIGLEC5. HMCN2 showed the second strongest association in this study (p = 6.1 × 10−8). Conclusions: This study expands the set of known genetic loci for severe periodontitis with an age of onset ≤35 years. The putative functions ascribed to the associated genes highlight the significance of oral barrier tissue stability, wound healing and tissue regeneration in the aetiology of these periodontitis forms and suggest the importance of tissue regeneration in maintaining oral health. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

9. In vitro induction of Entamoeba gingivalis cyst-like structures from trophozoites in response to antibiotic treatment

Author

Becker, Christin, Adam, Aysegül, Dommisch, Henrik, Stach, Thomas, and Schaefer, Arne S.

Subjects
ddc:570, cysts, 570 Biologie, ddc:610, Entamoeba gingivalis, periimplantitis, encystation, 610 Medizin und Gesundheit, periodontitis, antibiotics
Abstract

Background: Entamoeba gingivalis (E. gingivalis) is an anaerobic protozoan that is strongly associated with inflamed periodontal pockets. It is able to invade the mucosal epithelium of the human host, where it can feed on epithelial cells and elicit a severe innate immune response. Unlike other Entamoeba species, it is considered that E. gingivalis cannot form cysts, because it is a non-infectious protozoan. The lack of encystation capability would make it susceptible to periodontal treatment. However, it is not clear how the human host becomes infected with E. gingivalis trophozoites. We investigated the ability of E. gingivalis to encapsulate in response to an unfavorable environment in vitro. Methods: Different strains of E. gingivalis, isolated from inflamed periodontal pocket samples, were cultured for 8 days in the presence or absence of the antimicrobials amoxycillin and metronidazole. To reveal cyst formation, we investigated the morphology and ultrastructure of the amoeba by light, fluorescence, transmission and scanning electron microscopy. We also used the fluorescent dye calcofluor white M2R to demonstrate chitin present in the cyst wall. Results: We observed exocysts and an intra-cystic space separating the encapsulated trophozoite from the environment. Remarkably, cysts showed a smooth surface, polygonal edges and smaller size compared to free-living trophozoites. In addition, encapsulated trophozoites that detached from the cyst wall had a dense cytoplasma without phagocytic vesicles. The cyst walls consisted of chitin as in other Entamoba species. The encapsulated trophozoids were mononuclear after antibioticinduced encapsulation. Discussion: We conclude that E. gingivalis cyst formation has significant implications for dissemination and infection and may explain why established treatment approaches often fail to halt periodontal tissue destruction during periodontitis and peri-implantitis.

Published
2023

13. Protocols, Methods, and Tools for Genome-Wide Association Studies (GWAS) of Dental Traits

Author

Agler, Cary S., primary, Shungin, Dmitry, additional, Ferreira Zandoná, Andrea G., additional, Schmadeke, Paige, additional, Basta, Patricia V., additional, Luo, Jason, additional, Cantrell, John, additional, Pahel, Thomas D., additional, Meyer, Beau D., additional, Shaffer, John R., additional, Schaefer, Arne S., additional, North, Kari E., additional, and Divaris, Kimon, additional

Published
2019
Full Text
View/download PDF

20. RSPO4 is a potential risk gene of stages III–IV, grade C periodontitis through effects on innate immune response and oral barrier integrity.

Author

Chopra, Avneesh, Song, Jiahui, Weiner, January, Keceli, Huseyin G., Dincer, Pervin R., Cruz, Raquel, Carracedo, Angel, Blanco, Juan, Dommisch, Henrik, and Schaefer, Arne S.

Subjects
NATURAL immunity, IN vitro studies, SEQUENCE analysis, CONFIDENCE intervals, PERIODONTITIS, GENOMES, DESCRIPTIVE statistics, RESEARCH funding, DATA analysis software, ODDS ratio, TRANSCRIPTION factors
Abstract

Aim: R‐spondin 4 (RSPO4) is a suggestive risk gene of stage III–IV, grade C periodontitis and upregulated in gingiva of mice resistant to bacteria‐induced alveolar bone loss. We aimed to replicate the association, identify and characterize the putative causal variant(s) and molecular effects, and understand the downstream effects of RSPO4 upregulation. Materials and Methods: We performed a two‐step association study for RSPO4 with imputed genotypes of a German–Dutch (896 stage III–IV, grade C periodontitis cases, 7104 controls) and Spanish sample (441 cases and 1141 controls). We analysed the allelic effects on transcription factor binding sites with reporter gene and antibody electrophoretic mobility shift assays. We used CRISPR/dCas9 activation and RNA sequencing to pinpoint RSPO4 as the target gene and to analyse downstream effects. Results: RSPO4 was associated with periodontitis (rs6056178, pmeta = 4.6 × 10−5). rs6056178 contains a GATA‐binding motif. The rs6056178 T‐allele abolished reporter activity (p =.004) and reduced GATA binding (−14.5%). CRISPRa of the associated region increased RSPO4 expression (25.8 ± 6.5‐fold, p =.003). RSPO4 activation showed strongest induction of Gliomedin (439‐fold) and Mucin 21 (178‐fold) and of the gene set "response to interferon‐alpha" (area under the curve [AUC] = 0.8, p < 5 × 10−6). The most repressed gene set was "extracellular matrix interactions" (AUC = 0.8, padj =.00016). Conclusion: RSPO4 is a potential periodontitis risk gene and modifies host defence and barrier integrity. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

21. Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus

Author

Munz, Matthias, Richter, Gesa M., Loos, Bruno G., Jepsen, Søren, Divaris, Kimon, Offenbacher, Steven, Teumer, Alexander, Holtfreter, Birte, Kocher, Thomas, Bruckmann, Corinna, Jockel-Schneider, Yvonne, Graetz, Christian, Munoz, Loreto, Bhandari, Anita, Tennstedt, Stephanie, Staufenbiel, Ingmar, van der Velde, Nathalie, Uitterlinden, André G., de Groot, Lisette C. P. G. M., Wellmann, Jürgen, Berger, Klaus, Krone, Bastian, Hoffmann, Per, Laudes, Matthias, Lieb, Wolfgang, Franke, Andre, Dommisch, Henrik, Erdmann, Jeanette, and Schaefer, Arne S.

Published
2018
Full Text
View/download PDF

23. Case‐only design identifies interactions of genetic risk variants at SIGLEC5 and PLG with the lncRNA CTD‐2353F22.1 implying the importance of periodontal wound healing for disease aetiology.

Author

Müller, Ricarda, Freitag‐Wolf, Sandra, Weiner, January, Chopra, Avneesh, Top, Tugba, Dommisch, Henrik, and Schaefer, Arne S.

Subjects
PROTEINS, WOUND healing, RESEARCH, PERIODONTITIS, SINGLE nucleotide polymorphisms, GENETIC variation, RNA, PERIODONTAL disease, ALLELES, MATHEMATICAL variables, PLASMINOGEN activators, CRISPRS, PHENOTYPES
Abstract

Aim: The basis of phenotypic variation of periodontitis is genetic variability. Disease relevant effects of individual risk alleles are considered to result from genetic interactions. We investigated gene × gene (G×G) interactions of suggestive periodontitis susceptibility alleles. Materials and Methods: We used the case‐only design and investigated single‐nucleotide polymorphism (SNPs) that showed associations in our recent genome‐wide association study (GWAS) and GWAS meta‐analysis with p < 5 × 10−6. CRISPR‐dCas9 gene activation followed by RNA‐sequencing and gene‐set enrichment analyses elucidated differentially expressed genes and gene networks. With the databases of SNPInspector and Transfac professional, luciferase reporter gene assays and antibody electrophoretic mobility shift experiments, we analysed allele‐specific effects on transcription factor binding. Results: SNPs at the genes sialic acid binding Ig‐like lectin 5 (SIGLEC5) and plasminogen (PLG) showed G×G interactions with rs1122900 at the long non‐coding RNA (lncRNA) CTD‐2353F22. Associated chromatin cis‐activated CTD‐2353F22.1 6.5‐fold (p =.003), indicating CTD‐2353F22.1 as target gene of this interaction. CTD‐2353F22.1 regulated GADD45A (padj < 4.9 × 10−11, log2 fold change (FC) = −0.55), THBS1, SERPINE1 and Tissue Factor F3 (padj < 5 × 10−7, log2 FC ≥ −0.35) and the gene set "angiogenesis" (area under the curve = 0.71, padj = 8.2 × 10−5). rs1122900 effect C‐allele decreased reporter gene activity (5.5‐fold, p =.0003) and PRDM14 binding (76%). Conclusions: CTD‐2353F22.1 mediates interaction of SIGLEC5 and PLG, together with genes that function in periodontal wound healing. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

24. Sex‐specific genetic factors affect the risk of early‐onset periodontitis in Europeans

Author

Freitag‐Wolf, Sandra, primary, Munz, Matthias, additional, Junge, Olaf, additional, Graetz, Christian, additional, Jockel‐Schneider, Yvonne, additional, Staufenbiel, Ingmar, additional, Bruckmann, Corinna, additional, Lieb, Wolfgang, additional, Franke, Andre, additional, Loos, Bruno G., additional, Jepsen, Søren, additional, Dommisch, Henrik, additional, and Schaefer, Arne S., additional

Published
2021
Full Text
View/download PDF

26. A large candidate-gene association study suggests genetic variants at IRF5 and PRDM1 to be associated with aggressive periodontitis

Author

Schaefer, Arne S., Jochens, Arne, Dommisch, Henrik, Graetz, Christian, Jockel-Schneider, Yvonne, Harks, Inga, Staufenbiel, Ingmar, Meyle, Joerg, Eickholz, Peter, Folwaczny, Mathias, Laine, Marja, Noack, Barbara, Wijmenga, Cisca, Lieb, Wolfgang, Bruckmann, Corinna, Schreiber, Stefan, Jepsen, Sren, and Loos, Bruno G.

Published
2014
Full Text
View/download PDF

28. SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis

Author

de Jong, Thijs M. H., Jochens, Arne, Jockel-Schneider, Yvonne, Harks, Inga, Dommisch, Henrik, Graetz, Christian, Flachsbart, Friederike, Staufenbiel, Ingmar, Eberhard, Jörg, Folwaczny, Mathias, Noack, Barbara, Meyle, Joerg, Eickholz, Peter, Gieger, Christian, Grallert, Harald, Lieb, Wolfgang, Franke, Andre, Nebel, Almut, Schreiber, Stefan, Doerfer, Christof, Jepsen, Sren, Bruckmann, Corinna, van der Velden, Ubele, Loos, Bruno G., and Schaefer, Arne S.

Published
2014
Full Text
View/download PDF

30. Validation of reported genetic risk factors for periodontitis in a large-scale replication study*

Author

Schaefer, Arne S., Bochenek, Gregor, Manke, Thomas, Nothnagel, Michael, Graetz, Christian, Thien, Anneke, Jockel-Schneider, Yvonne, Harks, Inga, Staufenbiel, Ingmar, Wijmenga, Cisca, Eberhard, Jörg, Guzeldemir-Akcakanat, Esra, Cine, Naci, Folwaczny, Mathias, Noack, Barbara, Meyle, Joerg, Eickholz, Peter, Trombelli, Leonardo, Scapoli, Chiara, Nohutcu, Rahime, Bruckmann, Corinna, Doerfer, Christof, Jepsen, Sren, Loos, Bruno G., and Schreiber, Stefan

Published
2013
Full Text
View/download PDF

34. Corrigendum to: A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis

Author

Munz, Matthias, Willenborg, Christina, Richter, Gesa M., Jockel-Schneider, Yvonne, Graetz, Christian, Staufenbiel, Ingmar, Wellmann, Jürgen, Berger, Klaus, Krone, Bastian, Hoffmann, Per, Van Der Velde, Nathalie, Uitterlinden, André G., De Groot, C.P.G.M., Sawalha, Amr H., Direskeneli, Haner, Saruhan-Direskeneli, Güher, Guzeldemir-Akcakanat, Esra, Keceli, Huseyin Gencay, Laudes, Matthias, Noack, Barbara, Teumer, Alexander, Holtfreter, Birte, Kocher, Thomas, Eickholz, Peter, Meyle, Jörg, Doerfer, Christof, Bruckmann, Corinna, Lieb, Wolfgang, Franke, Andre, Schreiber, Stefan, Nohutcu, Rahime M., Erdmann, Jeanette, Loos, Bruno G., Jepsen, Soeren, Dommisch, Henrik, and Schaefer, Arne S.

Subjects
Global Nutrition, Wereldvoeding, Life Science, VLAG
Published
2018

35. Corrigendum: A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis [Human Molecular Genetics., 26, 13, (2017) (2577-2588)] DOI: 10.1093/hmg/ddx151

Author

Munz, Matthias, Willenborg, Christina, Richter, Gesa M., Jockel-Schneider, Yvonne, Graetz, Christian, Staufenbiel, Ingmar, Wellmann, J. rgen, Berger, Klaus, Krone, Bastian, Hoffmann, Per, van der Velde, Nathalie, Uitterlinden, André G., de Groot, Lisette C. P. G. M., Sawalha, Amr H., Direskeneli, Haner, Saruhan-Direskeneli, G. her, Guzeldemir-Akcakanat, Esra, Keceli, Huseyin Gencay, Laudes, Matthias, Noack, Barbara, Teumer, Alexander, Holtfreter, Birte, Kocher, Thomas, Eickholz, Peter, Meyle, J. rg, Doerfer, Christof, Bruckmann, Corinna, Lieb, Wolfgang, Franke, Andre, Schreiber, Stefan, Nohutcu, Rahime M., Erdmann, Jeanette, Loos, Bruno G., Jepsen, Soeren, Dommisch, Henrik, and Schaefer, Arne S.

Abstract

The authors wish to apologize for the following two errors in the original article: (i) the first name of a co-author, Huseyin Gencay Keceli, was omitted; (ii) the statement 'This research was financially supported by the Turkish Scientific and Research Council (TUBITAK) (Grant no: 114S543)' was omitted. These have both now been corrected online.

Published
2018

37. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study

Author

Haycock, Philip C. Burgess, Stephen Nounu, Aayah Zheng, Jie and Okoli, George N. Bowden, Jack Wade, Kaitlin Hazel and Timpson, Nicholas J. Evans, David M. Willeit, Peter Aviv, Abraham Gaunt, Tomr. Hemani, Gibran Mangino, Massimo and Ellis, Hayley Patricia Kurian, Kathreena M. Pooley, Karen A. and Eeles, Rosalind A. Lee, Jeffrey E. Fang, Shenying Chen, Wei V. Law, Matthew H. Bowdler, Lisa M. Iles, Mark M. Yang, Qiong Worrall, Bradford B. Markus, Hugh Stephen Hung, Rayjean J. Amos, Chris I. Spurdle, Amanda B. Thompson, Deborah J. O'Mara, Tracy A. Wolpin, Brian Amundadottir, Laufey Stolzenberg-Solomon, Rachael Trichopoulou, Antonia and Onland-Moret, Charlotte Lund, Eiliv Duell, Eric J. Canzian, Federico Severi, Gianluca Overvad, Kim Gunter, Marc J. and Tumino, Rosario Svenson, Ulrika van Rij, Andre Baas, Annette F. Bown, Matthew J. Samani, Nilesh J. van t'Hof, Femke N. G. and Tromp, Gerard Jones, Gregory T. Kuivaniemi, Helena and Elmore, James R. Johansson, Mattias Mckay, James Scelo, Ghislaine carreras-Torres, Robert Gaborieau, Valerie and Brennan, Paul Bracci, Paige M. Neale, Rachel E. Olson, Sara H. Gallinger, Steven Li, Donghui Petersen, Gloria M. and Risch, Harvey A. Klein, Alison P. Han, Jiali Abnet, Christian C. Freedman, Neal D. Taylor, Philip R. Maris, John M. Aben, Katja K. Kiemeney, Lambertus A. Vermeulen, Sita H. and Wiencke, John K. Walsh, Kyle M. Wrensch, Margaret Rice, Terri Turnbull, Clare Litchfield, Kevin Paternoster, Lavinia and Standl, Marie Abecasis, Goncalo R. SanGiovanni, John Paul and Li, Yong Mijatovic, Vladan Sapkota, Yadav Low, Siew-Kee and Zondervan, Krina T. Montgomery, Grant W. Nyholt, Dale R. and van Heel, David A. Hunt, Karen Arking, Dan E. Ashar, Foram N. Sotoodehnia, Nona Woo, Daniel Rosand, Jonathan and Comeau, Mary E. Brown, W. Mark Silverman, Edwin K. Hokanson, John E. Cho, Michael H. Hui, Jennie Ferreira, Manuel A. and Thompson, Philip J. Morrison, Alanna C. Felix, Janine F. and Smith, Nicholas L. Christiano, Angela M. Petukhova, Lynn and Betz, Regina C. Fan, Xing Zhang, Xuejun Zhu, Caihong and Langefeld, Carl D. Thompson, Susan D. Wang, Feijie Lin, Xu and Schwartz, David A. Fingerlin, Tasha Rotter, Jerome I. and Cotch, Mary Frances Jensen, Richard A. Munz, Matthias and Dommisch, Henrik Schaefer, Arne S. Han, Fang Ollila, Hanna M. Hillary, Ryan P. Albagha, Omar Ralston, Stuart H. and Zeng, Chenjie Zheng, Wei Shu, Xiao-Ou Reis, Andre Uebe, Steffen Hueffmeier, Ulrike Kawamura, Yoshiya Otowa, Takeshi and Sasaki, Tsukasa Hibberd, Martin Lloyd Davila, Sonia Xie, Gang Siminovitch, Katherine Bei, Jin-Xin Zeng, Yi-Xin and Foersti, Asta Chen, Bowang Landi, Stefano Franke, Andre and Fischer, Annegret Ellinghaus, David Flores, Carlos Noth, Imre Ma, Shwu-Fan Foo, Jia Nee Liu, Jianjun Kim, Jong-Won Cox, David G. Delattre, Olivier Mirabeau, Olivier and Skibola, Christine F. Tang, Clara S. Garcia-Barcelo, Merce and Chang, Kai-Ping Su, Wen-Hui Chang, Yu-Sun Martin, Nicholas G. Gordon, Scott Wade, Tracey D. Lee, Chaeyoung and Kubo, Michiaki Cha, Pei-Chieng Nakamura, Yusuke Levy, Daniel and Kimura, Masayuki Hwang, Shih-Jen Hunt, Steven Spector, Tim Soranzo, Nicole Manichaikul, Aniw. Barr, Graham and Kahali, Bratati Speliotes, Elizabeth Yerges-Armstrong, LauraM. and Cheng, Ching-Yu Jonas, Jost B. Wong, Tien Yin Fogh, Isabella Lin, Kuang Powell, John F. Rice, Kenneth and Relton, Caroline L. Martin, Richard M. Smith, George Davey and Telomeres Mendelian Randomization

Abstract

IMPORTANCE The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. OBJECTIVE To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. DATA SOURCES Genomewide association studies (GWAS) published up to January 15, 2015. STUDY SELECTION GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. DATA EXTRACTION AND SYNTHESIS Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. MAIN OUTCOMES AND MEASURES Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. RESULTS Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [ 95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [ 95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [ 95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [ 95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [ 95% CI, 0.05-0.15]). CONCLUSIONS AND RELEVANCE It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.

Published
2017

38. Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci

Author

Munz, Matthias, primary, Richter, Gesa M., additional, Loos, Bruno G., additional, Jepsen, Søren, additional, Divaris, Kimon, additional, Offenbacher, Steven, additional, Teumer, Alexander, additional, Holtfreter, Birte, additional, Kocher, Thomas, additional, Bruckmann, Corinna, additional, Jockel-Schneider, Yvonne, additional, Graetz, Christian, additional, Ahmad, Ilyas, additional, Staufenbiel, Ingmar, additional, van der Velde, Nathalie, additional, Uitterlinden, André G., additional, de Groot, Lisette C. P. G. M, additional, Wellmann, Jürgen, additional, Berger, Klaus, additional, Krone, Bastian, additional, Hoffmann, Per, additional, Laudes, Matthias, additional, Lieb, Wolfgang, additional, Franke, Andre, additional, Erdmann, Jeanette, additional, Dommisch, Henrik, additional, and Schaefer, Arne S., additional

Published
2018
Full Text
View/download PDF

41. A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis

Author

Munz, Matthias, primary, Willenborg, Christina, additional, Richter, Gesa M, additional, Jockel-Schneider, Yvonne, additional, Graetz, Christian, additional, Staufenbiel, Ingmar, additional, Wellmann, Jürgen, additional, Berger, Klaus, additional, Krone, Bastian, additional, Hoffmann, Per, additional, van der Velde, Nathalie, additional, Uitterlinden, André G, additional, de Groot, Lisette C P G M, additional, Sawalha, Amr H, additional, Direskeneli, Haner, additional, Saruhan-Direskeneli, Güher, additional, Guzeldemir-Akcakanat, Esra, additional, Keceli, Huseyin Gencay, additional, Laudes, Matthias, additional, Noack, Barbara, additional, Teumer, Alexander, additional, Holtfreter, Birte, additional, Kocher, Thomas, additional, Eickholz, Peter, additional, Meyle, Jörg, additional, Doerfer, Christof, additional, Bruckmann, Corinna, additional, Lieb, Wolfgang, additional, Franke, Andre, additional, Schreiber, Stefan, additional, Nohutcu, Rahime M, additional, Erdmann, Jeanette, additional, Loos, Bruno G, additional, Jepsen, Soeren, additional, Dommisch, Henrik, additional, and Schaefer, Arne S, additional

Published
2018
Full Text
View/download PDF

42. A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis

Author

Munz, Matthias, primary, Willenborg, Christina, additional, Richter, Gesa M, additional, Jockel-Schneider, Yvonne, additional, Graetz, Christian, additional, Staufenbiel, Ingmar, additional, Wellmann, Jürgen, additional, Berger, Klaus, additional, Krone, Bastian, additional, Hoffmann, Per, additional, van der Velde, Nathalie, additional, Uitterlinden, André G, additional, de Groot, Lisette C P G M, additional, Sawalha, Amr H, additional, Direskeneli, Haner, additional, Saruhan-Direskeneli, Güher, additional, Guzeldemir-Akcakanat, Esra, additional, Keceli, Huseyin Gencay, additional, Laudes, Matthias, additional, Noack, Barbara, additional, Teumer, Alexander, additional, Holtfreter, Birte, additional, Kocher, Thomas, additional, Eickholz, Peter, additional, Meyle, Jörg, additional, Doerfer, Christof, additional, Bruckmann, Corinna, additional, Lieb, Wolfgang, additional, Franke, Andre, additional, Schreiber, Stefan, additional, Nohutcu, Rahime M, additional, Erdmann, Jeanette, additional, Loos, Bruno G, additional, Jepsen, Soeren, additional, Dommisch, Henrik, additional, and Schaefer, Arne S, additional

Published
2017
Full Text
View/download PDF

43. Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease

Author

Offenbacher, Steven, primary, Divaris, Kimon, additional, Barros, Silvana P., additional, Moss, Kevin L., additional, Marchesan, Julie T., additional, Morelli, Thiago, additional, Zhang, Shaoping, additional, Kim, Steven, additional, Sun, Lu, additional, Beck, James D., additional, Laudes, Matthias, additional, Munz, Matthias, additional, Schaefer, Arne S., additional, and North, Kari E., additional

Published
2016
Full Text
View/download PDF

44. Association Between the Chromosome 9p21 Locus and Angiographic Coronary Artery Disease Burden: A Collaborative Meta-Analysis

Author

Chan, Kenneth, MPharm, Patel, Riyaz S., Newcombe, Paul, Nelson, Christopher P., Qasim, Atif, Epstein, Stephen E., Burnett, Susan, Vaccarino, Viola L., Zafari, A. Maziar, Shah, Svati H., Anderson, Jeffrey L., Carlquist, John F., Hartiala, Jaana, Allayee, Hooman, Hinohara, Kunihiko, Lee, Bok-Soo, Erl, Anna, Ellis, Katrina L., Goel, Anuj, Schaefer, Arne S., El Mokhtari, Nour Eddine, Goldstein, Benjamin A., Hlatky, Mark A., Go, Alan S., Shen, Gong-Qing, Gong, Yan, Pepine, Carl, Laxton, Ross C., Whittaker, John C., Tang, W.H. Wilson, Johnson, Julie A., Wang, Qing K., Assimes, Themistocles L., Nöthlings, Ute, Farrall, Martin, Watkins, Hugh, Richards, A. Mark, Cameron, Vicky A., Muendlein, Axel, Drexel, Heinz, Koch, Werner, Park, Jeong Euy, Kimura, Akinori, Shen, Wei-feng, Simpson, Iain A., Hazen, Stanley L., Horne, Benjamin D., Hauser, Elizabeth R., Quyyumi, Arshed A., Reilly, Muredach P., Samani, Nilesh J., and Ye, Shu

Subjects
Genetic Loci, Myocardial Infarction, Humans, Coronary Artery Disease, Chromosomes, Human, Pair 9, Coronary Angiography, Polymorphism, Single Nucleotide, Article
Abstract

This study sought to ascertain the relationship of 9p21 locus with: 1) angiographic coronary artery disease (CAD) burden; and 2) myocardial infarction (MI) in individuals with underlying CAD.Chromosome 9p21 variants have been robustly associated with coronary heart disease, but questions remain on the mechanism of risk, specifically whether the locus contributes to coronary atheroma burden or plaque instability.We established a collaboration of 21 studies consisting of 33,673 subjects with information on both CAD (clinical or angiographic) and MI status along with 9p21 genotype. Tabular data are provided for each cohort on the presence and burden of angiographic CAD, MI cases with underlying CAD, and the diabetic status of all subjects.We first confirmed an association between 9p21 and CAD with angiographically defined cases and control subjects (pooled odds ratio [OR]: 1.31, 95% confidence interval [CI]: 1.20 to 1.43). Among subjects with angiographic CAD (n = 20,987), random-effects model identified an association with multivessel CAD, compared with those with single-vessel disease (OR: 1.10, 95% CI: 1.04 to 1.17)/copy of risk allele). Genotypic models showed an OR of 1.15, 95% CI: 1.04 to 1.26 for heterozygous carrier and OR: 1.23, 95% CI: 1.08 to 1.39 for homozygous carrier. Finally, there was no significant association between 9p21 and prevalent MI when both cases (n = 17,791) and control subjects (n = 15,882) had underlying CAD (OR: 0.99, 95% CI: 0.95 to 1.03)/risk allele.The 9p21 locus shows convincing association with greater burden of CAD but not with MI in the presence of underlying CAD. This adds further weight to the hypothesis that 9p21 locus primarily mediates an atherosclerotic phenotype.

Published
2013

45. Genetic Evidence for PLASMINOGEN as a Shared Genetic Risk Factor of Coronary Artery Disease and Periodontitis

Author

Schaefer, Arne S., primary, Bochenek, Gregor, additional, Jochens, Arne, additional, Ellinghaus, David, additional, Dommisch, Henrik, additional, Güzeldemir-Akçakanat, Esra, additional, Graetz, Christian, additional, Harks, Inga, additional, Jockel-Schneider, Yvonne, additional, Weinspach, Knut, additional, Meyle, Joerg, additional, Eickholz, Peter, additional, Linden, Gerry J., additional, Cine, Naci, additional, Nohutcu, Rahime, additional, Weiss, Ervin, additional, Houri-Haddad, Yael, additional, Iraqi, Fuad, additional, Folwaczny, Mathias, additional, Noack, Barbara, additional, Strauch, Konstantin, additional, Gieger, Christian, additional, Waldenberger, Melanie, additional, Peters, Annette, additional, Wijmenga, Cisca, additional, Yilmaz, Engin, additional, Lieb, Wolfgang, additional, Rosenstiel, Philip, additional, Doerfer, Christof, additional, Bruckmann, Corinna, additional, Erdmann, Jeannette, additional, König, Inke, additional, Jepsen, Søren, additional, Loos, Bruno G., additional, and Schreiber, Stefan, additional

Published
2015
Full Text
View/download PDF

46. Association Between the Chromosome 9p21 Locus and Angiographic Coronary Artery Disease Burden

Author

Chan, Kenneth, primary, Patel, Riyaz S., additional, Newcombe, Paul, additional, Nelson, Christopher P., additional, Qasim, Atif, additional, Epstein, Stephen E., additional, Burnett, Susan, additional, Vaccarino, Viola L., additional, Zafari, A. Maziar, additional, Shah, Svati H., additional, Anderson, Jeffrey L., additional, Carlquist, John F., additional, Hartiala, Jaana, additional, Allayee, Hooman, additional, Hinohara, Kunihiko, additional, Lee, Bok-Soo, additional, Erl, Anna, additional, Ellis, Katrina L., additional, Goel, Anuj, additional, Schaefer, Arne S., additional, El Mokhtari, Nour Eddine, additional, Goldstein, Benjamin A., additional, Hlatky, Mark A., additional, Go, Alan S., additional, Shen, Gong-Qing, additional, Gong, Yan, additional, Pepine, Carl, additional, Laxton, Ross C., additional, Whittaker, John C., additional, Tang, W.H. Wilson, additional, Johnson, Julie A., additional, Wang, Qing K., additional, Assimes, Themistocles L., additional, Nöthlings, Ute, additional, Farrall, Martin, additional, Watkins, Hugh, additional, Richards, A. Mark, additional, Cameron, Vicky A., additional, Muendlein, Axel, additional, Drexel, Heinz, additional, Koch, Werner, additional, Park, Jeong Euy, additional, Kimura, Akinori, additional, Shen, Wei-feng, additional, Simpson, Iain A., additional, Hazen, Stanley L., additional, Horne, Benjamin D., additional, Hauser, Elizabeth R., additional, Quyyumi, Arshed A., additional, Reilly, Muredach P., additional, Samani, Nilesh J., additional, and Ye, Shu, additional

Published
2013
Full Text
View/download PDF

48. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

Author

Haycock, Philip C., Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N., Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J., Evans, David M., Willeit, Peter, Aviv, Abraham, Gaunt, Tom R., Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M., Pooley, Karen A., Eeles, Rosalind A., Lee, Jeffrey E., Fang, Shenying, Chen, Wei V., Law, Matthew H., Bowdler, Lisa M., Iles, Mark M., Yang, Qiong, Worrall, Bradford B., Markus, Hugh Stephen, Hung, Rayjean J., Amos, Chris I., Spurdle, Amanda B., Thompson, Deborah J., O’Mara, Tracy A., Wolpin, Brian, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael, Trichopoulou, Antonia, Onland-Moret, N. Charlotte, Lund, Eiliv, Duell, Eric J., Canzian, Federico, Severi, Gianluca, Overvad, Kim, Gunter, Marc J., Tumino, Rosario, Svenson, Ulrika, van Rij, Andre, Baas, Annette F., Bown, Matthew J., Samani, Nilesh J., van t’Hof, Femke N.G., Tromp, Gerard, Jones, Gregory T., Kuivaniemi, Helena, Elmore, James R., Johansson, Mattias, Mckay, James, Scelo, Ghislaine, Carreras-Torres, Robert, Gaborieau, Valerie, Brennan, Paul, Bracci, Paige M., Neale, Rachel E., Olson, Sara H., Gallinger, Steven, Li, Donghui, Petersen, Gloria M., Risch, Harvey A., Klein, Alison P., Han, Jiali, Abnet, Christian C., Freedman, Neal D., Taylor, Philip R., Maris, John M., Aben, Katja K., Kiemeney, Lambertus A., Vermeulen, Sita H., Wiencke, John K., Walsh, Kyle M., Wrensch, Margaret, Rice, Terri, Turnbull, Clare, Litchfield, Kevin, Paternoster, Lavinia, Standl, Marie, Abecasis, Gonçalo R., SanGiovanni, John Paul, Li, Yong, Mijatovic, Vladan, Sapkota, Yadav, Low, Siew-Kee, Zondervan, Krina T., Montgomery, Grant W., Nyholt, Dale R., van Heel, David A., Hunt, Karen, Arking, Dan E., Ashar, Foram N., Sotoodehnia, Nona, Woo, Daniel, Rosand, Jonathan, Comeau, Mary E., Brown, W. Mark, Silverman, Edwin K., Hokanson, John E., Cho, Michael H., Hui, Jennie, Ferreira, Manuel A., Thompson, Philip J., Morrison, Alanna C., Felix, Janine F., Smith, Nicholas L., Christiano, Angela M, Petukhova, Lynn, Betz, Regina C., Fan, Xing, Zhang, Xuejun, Zhu, Caihong, Langefeld, Carl D., Thompson, Susan D., Wang, Feijie, Lin, Xu, Schwartz, David A., Fingerlin, Tasha, Rotter, Jerome I., Cotch, Mary Frances, Jensen, Richard A., Munz, Matthias, Dommisch, Henrik, Schaefer, Arne S., Han, Fang, Ollila, Hanna M., Hillary, Ryan P., Albagha, Omar, Ralston, Stuart H., Zeng, Chenjie, Zheng, Wei, Shu, Xiao-Ou, Reis, Andre, Uebe, Steffen, Hüffmeier, Ulrike, Kawamura, Yoshiya, Otowa, Takeshi, Sasaki, Tsukasa, Hibberd, Martin Lloyd, Davila, Sonia, Xie, Gang, Siminovitch, Katherine, Bei, Jin-Xin, Zeng, Yi-Xin, Försti, Asta, Chen, Bowang, Landi, Stefano, Franke, Andre, Fischer, Annegret, Ellinghaus, David, Flores, Carlos, Noth, Imre, Ma, Shwu-Fan, Foo, Jia Nee, Liu, Jianjun, Kim, Jong-Won, Cox, David G., Delattre, Olivier, Mirabeau, Olivier, Skibola, Christine F., Tang, Clara S., Garcia-Barcelo, Merce, Chang, Kai-Ping, Su, Wen-Hui, Chang, Yu-Sun, Martin, Nicholas G., Gordon, Scott, Wade, Tracey D., Lee, Chaeyoung, Kubo, Michiaki, Cha, Pei-Chieng, Nakamura, Yusuke, Levy, Daniel, Kimura, Masayuki, Hwang, Shih-Jen, Hunt, Steven, Spector, Tim, Soranzo, Nicole, Manichaikul, Ani W., Barr, R. Graham, Kahali, Bratati, Speliotes, Elizabeth, Yerges-Armstrong, Laura M., Cheng, Ching-Yu, Jonas, Jost B., Wong, Tien Yin, Fogh, Isabella, Lin, Kuang, Powell, John F., Rice, Kenneth, Relton, Caroline L., Martin, Richard M., and Davey Smith, George

Abstract

IMPORTANCE: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. OBJECTIVE: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. DATA SOURCES: Genomewide association studies (GWAS) published up to January 15, 2015. STUDY SELECTION: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. DATA EXTRACTION AND SYNTHESIS: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. MAIN OUTCOMES AND MEASURES: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. RESULTS: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [95% CI, 0.05-0.15]). CONCLUSIONS AND RELEVANCE: It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.

Published
2017
Full Text
View/download PDF

49. A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis

Author

Schaefer, Arne S., primary, Richter, Gesa M., additional, Nothnagel, Michael, additional, Manke, Thomas, additional, Dommisch, Henrik, additional, Jacobs, Gunnar, additional, Arlt, Alexander, additional, Rosenstiel, Philip, additional, Noack, Barbara, additional, Groessner-Schreiber, Birte, additional, Jepsen, Søren, additional, Loos, Bruno G., additional, and Schreiber, Stefan, additional

Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results