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614 results on '"Stricker, Bruno H. Ch."'

1. Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures

Author

Zhou, Wei, Ås, Joel, Shore-Lorenti, Catherine, Nguyen, Hanh H., van de Laarschot, Denise M., Sztal-Mazer, Shoshana, Grill, Vivian, Girgis, Christian M., Stricker, Bruno H. Ch., van der Eerden, Bram C. J., Thakker, Rajesh V., Appelman-Dijkstra, Natasha M., Wadelius, Mia, Clifton-Bligh, Roderick J., Hallberg, Pär, Verkerk, Annemieke J. M. H., van Rooij, Jeroen G. J., Ebeling, Peter R., Zillikens, M. Carola, Zhou, Wei, Ås, Joel, Shore-Lorenti, Catherine, Nguyen, Hanh H., van de Laarschot, Denise M., Sztal-Mazer, Shoshana, Grill, Vivian, Girgis, Christian M., Stricker, Bruno H. Ch., van der Eerden, Bram C. J., Thakker, Rajesh V., Appelman-Dijkstra, Natasha M., Wadelius, Mia, Clifton-Bligh, Roderick J., Hallberg, Pär, Verkerk, Annemieke J. M. H., van Rooij, Jeroen G. J., Ebeling, Peter R., and Zillikens, M. Carola

Abstract

Several small genetic association studies have been conducted for atypical femur fracture (AFF) without replication of results. We assessed previously implicated and novel genes associated with AFFs in a larger set of unrelated AFF cases using whole exome sequencing (WES). We performed gene-based association analysis on 139 European AFF cases and 196 controls matched for bisphosphonate use. We tested all rare, protein-altering variants using both candidate gene and hypothesis-free approaches. In the latter, genes suggestively associated with AFFs (uncorrected p-values <.01) were investigated in a Swedish whole-genome sequencing replication study and assessed in 46 non-European cases. In the candidate gene analysis, PLOD2 showed a suggestive signal. The hypothesis-free approach revealed 10 tentative associations, with XRN2, SORD, and PLOD2 being the most likely candidates for AFF. XRN2 and PLOD2 showed consistent direction of effect estimates in the replication analysis, albeit not statistically significant. Three SNPs associated with SORD expression according to the GTEx portal were in linkage disequilibrium (R2 ≥ 0.2) with an SNP previously reported in a genome-wide association study of AFF. The prevalence of carriers of variants for both PLOD2 and SORD was higher in Asian versus European cases. While we did not identify genes enriched for damaging variants, we found suggestive evidence of a role for XRN2, PLOD2, and SORD, which requires further investigation. Our findings indicate that genetic factors responsible for AFFs are not widely shared among AFF cases. The study provides a stepping-stone for future larger genetic studies of AFF., Title in the list of papers of Joel Ås' thesis: Gene-based association analysis of a large patient cohort identifies potential gene candidates for atypical femur fractures

Published
2024
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3. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Author

Sotoodehnia, Nona, Isaacs, Aaron, de Bakker, Paul IW, Dörr, Marcus, Newton-Cheh, Christopher, Nolte, Ilja M, van der Harst, Pim, Müller, Martina, Eijgelsheim, Mark, Alonso, Alvaro, Hicks, Andrew A, Padmanabhan, Sandosh, Hayward, Caroline, Smith, Albert Vernon, Polasek, Ozren, Giovannone, Steven, Fu, Jingyuan, Magnani, Jared W, Marciante, Kristin D, Pfeufer, Arne, Gharib, Sina A, Teumer, Alexander, Li, Man, Bis, Joshua C, Rivadeneira, Fernando, Aspelund, Thor, Köttgen, Anna, Johnson, Toby, Rice, Kenneth, Sie, Mark PS, Wang, Ying A, Klopp, Norman, Fuchsberger, Christian, Wild, Sarah H, Mateo Leach, Irene, Estrada, Karol, Völker, Uwe, Wright, Alan F, Asselbergs, Folkert W, Qu, Jiaxiang, Chakravarti, Aravinda, Sinner, Moritz F, Kors, Jan A, Petersmann, Astrid, Harris, Tamara B, Soliman, Elsayed Z, Munroe, Patricia B, Psaty, Bruce M, Oostra, Ben A, Cupples, L Adrienne, Perz, Siegfried, de Boer, Rudolf A, Uitterlinden, André G, Völzke, Henry, Spector, Timothy D, Liu, Fang-Yu, Boerwinkle, Eric, Dominiczak, Anna F, Rotter, Jerome I, van Herpen, Gé, Levy, Daniel, Wichmann, H-Erich, van Gilst, Wiek H, Witteman, Jacqueline CM, Kroemer, Heyo K, Kao, WH Linda, Heckbert, Susan R, Meitinger, Thomas, Hofman, Albert, Campbell, Harry, Folsom, Aaron R, van Veldhuisen, Dirk J, Schwienbacher, Christine, O'Donnell, Christopher J, Volpato, Claudia Beu, Caulfield, Mark J, Connell, John M, Launer, Lenore, Lu, Xiaowen, Franke, Lude, Fehrmann, Rudolf SN, te Meerman, Gerard, Groen, Harry JM, Weersma, Rinse K, van den Berg, Leonard H, Wijmenga, Cisca, Ophoff, Roel A, Navis, Gerjan, Rudan, Igor, Snieder, Harold, Wilson, James F, Pramstaller, Peter P, Siscovick, David S, Wang, Thomas J, Gudnason, Vilmundur, van Duijn, Cornelia M, Felix, Stephan B, Fishman, Glenn I, Jamshidi, Yalda, and Stricker, Bruno H Ch

Subjects
Heart Conduction System, Chromosomes, Human, Myocytes, Cardiac, Animals, Animals, Newborn, Mice, Transgenic, Humans, Mice, Sodium Channels, Electrocardiography, Models, Animal, Computational Biology, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci, NAV1.8 Voltage-Gated Sodium Channel, Chromosomes, Human, Myocytes, Cardiac, Newborn, Transgenic, Models, Animal, Polymorphism, Single Nucleotide, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

The QRS interval, from the beginning of the Q wave to the end of the S wave on an electrocardiogram, reflects ventricular depolarization and conduction time and is a risk factor for mortality, sudden death and heart failure. We performed a genome-wide association meta-analysis in 40,407 individuals of European descent from 14 studies, with further genotyping in 7,170 additional Europeans, and we identified 22 loci associated with QRS duration (P < 5 × 10(-8)). These loci map in or near genes in pathways with established roles in ventricular conduction such as sodium channels, transcription factors and calcium-handling proteins, but also point to previously unidentified biologic processes, such as kinase inhibitors and genes related to tumorigenesis. We demonstrate that SCN10A, a candidate gene at the most significantly associated locus in this study, is expressed in the mouse ventricular conduction system, and treatment with a selective SCN10A blocker prolongs QRS duration. These findings extend our current knowledge of ventricular depolarization and conduction.

Published
2010

4. The Rotterdam Study: 2016 objectives and design update

Author

Hofman, Albert, Brusselle, Guy G. O., Murad, Sarwa Darwish, van Duijn, Cornelia M., Franco, Oscar H., Goedegebure, André, Ikram, M. Arfan, Klaver, Caroline C. W., Nijsten, Tamar E. C., Peeters, Robin P., Stricker, Bruno H. Ch., Tiemeier, Henning W., Uitterlinden, André G., and Vernooij, Meike W.

Published
2015

6. The Rotterdam Study: 2014 objectives and design update

Author

Hofman, Albert, Murad, Sarwa Darwish, van Duijn, Cornelia M., Franco, Oscar H., Goedegebure, André, Ikram, M. Arfan, Klaver, Caroline C. W., Nijsten, Tamar E. C., Peeters, Robin P., Stricker, Bruno H. Ch., Tiemeier, Henning W., Uitterlinden, André G., and Vernooij, Meike W.

Published
2013

7. Lifetime risk and multimorbidity of non-communicable diseases and disease-free life expectancy in the general population: A population-based cohort study

Author

Licher, Silvan, Heshmatollah, Alis, van der Willik, Kimberly D., Stricker, Bruno H. Ch., Ruiter, Rikje, de Roos, Emmely W., Lahousse, Lies, Koudstaal, Peter J., Hofman, Albert, Fani, Lana, Brusselle, Guy G. O., Bos, Daniel, Arshi, Banafsheh, Kavousi, Maryam, Leening, Maarten J. G., Ikram, M. Kamran, and Ikram, M. Arfan

Subjects
Chronic diseases -- Risk factors -- Research, Life expectancy -- Analysis, Health risk assessment -- Analysis, Mortality, Death, Hypertension, Lung diseases, Cancer, Medical research, Respiratory tract diseases, Morbidity, Obesity, Heart diseases, Cardiovascular diseases, Nervous system diseases, Communicable diseases, Biological sciences
Abstract

Background Non-communicable diseases (NCDs) are leading causes of premature disability and death worldwide. However, the lifetime risk of developing any NCD is unknown, as are the effects of shared common risk factors on this risk. Methods and findings Between July 6, 1989, and January 1, 2012, we followed participants from the prospective Rotterdam Study aged 45 years and older who were free from NCDs at baseline for incident stroke, heart disease, diabetes, chronic respiratory disease, cancer, and neurodegenerative disease. We quantified occurrence/co-occurrence and remaining lifetime risk of any NCD in a competing risk framework. We additionally studied the lifetime risk of any NCD, age at onset, and overall life expectancy for strata of 3 shared risk factors at baseline: smoking, hypertension, and overweight. During 75,354 person-years of follow-up from a total of 9,061 participants (mean age 63.9 years, 60.1% women), 814 participants were diagnosed with stroke, 1,571 with heart disease, 625 with diabetes, 1,004 with chronic respiratory disease, 1,538 with cancer, and 1,065 with neurodegenerative disease. NCDs tended to co-occur substantially, with 1,563 participants (33.7% of those who developed any NCD) diagnosed with multiple diseases during follow-up. The lifetime risk of any NCD from the age of 45 years onwards was 94.0% (95% CI 92.9%-95.1%) for men and 92.8% (95% CI 91.8%-93.8%) for women. These risks remained high (>90.0%) even for those without the 3 risk factors of smoking, hypertension, and overweight. Absence of smoking, hypertension, and overweight was associated with a 9.0-year delay (95% CI 6.3-11.6) in the age at onset of any NCD. Furthermore, the overall life expectancy for participants without these risk factors was 6.0 years (95% CI 5.2-6.8) longer than for those with all 3 risk factors. Participants aged 45 years and older without the 3 risk factors of smoking, hypertension, and overweight at baseline spent 21.6% of their remaining lifetime with 1 or more NCDs, compared to 31.8% of their remaining life for participants with all of these risk factors at baseline. This difference corresponds to a 2-year compression of morbidity of NCDs. Limitations of this study include potential residual confounding, unmeasured changes in risk factor profiles during follow-up, and potentially limited generalisability to different healthcare settings and populations not of European descent. Conclusions Our study suggests that in this western European community, 9 out of 10 individuals aged 45 years and older develop an NCD during their remaining lifetime. Among those individuals who develop an NCD, at least a third are subsequently diagnosed with multiple NCDs. Absence of 3 common shared risk factors is associated with compression of morbidity of NCDs. These findings underscore the importance of avoidance of these common shared risk factors to reduce the premature morbidity and mortality attributable to NCDs., Author(s): Silvan Licher 1, Alis Heshmatollah 1,2, Kimberly D. van der Willik 1,3, Bruno H. Ch. Stricker 1, Rikje Ruiter 1, Emmely W. de Roos 1,4, Lies Lahousse 1,5, Peter [...]

Published
2019
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10. The Rotterdam Study: 2012 objectives and design update

Author

Hofman, Albert, van Duijn, Cornelia M., Franco, Oscar H., Ikram, M. Arfan, Janssen, Harry L. A., Klaver, Caroline C. W., Kuipers, Ernst J., Nijsten, Tamar E. C., Stricker, Bruno H. Ch., Tiemeier, Henning, Uitterlinden, André G., Vernooij, Meike W., and Witteman, Jacqueline C. M.

Published
2011

12. The Association of Serum Testosterone Levels and Ventricular Repolarization

Author

van Noord, Charlotte, Dörr, Marcus, Sturkenboom, Miriam C. J. M., Straus, Sabine M. J. M., Reffelmann, Thorsten, Felix, Stephan B., Hofman, Albert, Kors, Jan A., Haring, Robin, de Jong, Frank H., Nauck, Matthias, Uitterlinden, André G., Wallaschofski, Henri, Witteman, Jacqueline C. M., Völzke, Henry, and Stricker, Bruno H. Ch.

Published
2010
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14. The Rotterdam Study: objectives and design update

Author

Hofman, Albert, Breteler, Monique M. B., van Duijn, Cornelia M., Krestin, Gabriel P., Pols, Huibert A., Stricker, Bruno H. Ch., Tiemeier, Henning, Uitterlinden, André G., Vingerling, Johannes R., and Witteman, Jacqueline C. M.

Published
2007

27. The Rotterdam Study: 2010 objectives and design update

Author

Hofman, Albert, Breteler, Monique M. B., van Duijn, Cornelia M., Janssen, Harry L. A., Krestin, Gabriel P., Kuipers, Ernst J., Stricker, Bruno H. Ch., Tiemeier, Henning, Uitterlinden, André G., Vingerling, Johannes R., and Witteman, Jacqueline C. M.

Published
2009
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37. Annual revaccination against influenza and mortality risk in community-dwelling elderly persons

Author

Voordouw, A.C.G., Sturkenboom, M.C.J.M., Dieleman, J.P., Stijnen, Th., Smith, D.J., Lei, J. van der, and Stricker, Bruno H. Ch.

Subjects
Influenza vaccines -- Surveys, Aged -- Health aspects, Aged -- Surveys
Abstract

An attempt is made to investigate the effect of annual influenza revaccination on mortality in community-dwelling elderly persons. Results of the investigation states that overall, influenza vaccination is estimated to prevent 1death for every 302 vaccinees at a vaccination coverage that varied between 64% and 74%.

Published
2004

41. Indinavir crystallization around the loop of Henle: experimental evidence

Author

Dieleman, Jeanne P., Salahuddin, Saima, Yen Shen Hsu, Burger, David M., Gyssens, Inge C., Sturkenboom, Miriam C. J. M., Stricker, Bruno H. Ch., and Kok, Dirk J.

Subjects
Epidemiology -- Statistics, Epidemiology -- Research, HIV infection -- Prevention, HIV infection -- Research, HIV infection -- Health aspects, Indinavir -- Physiological aspects, Protease inhibitors -- Physiological aspects, Crystallization -- Physiological aspects, Health
Abstract

Research has been conducted on plasma and nephron indinavir. The determination of the concentration site of these compounds at which intrarenal indinavir crystallization occurs has been carried out, and the results suggest that this crystallization starts in the loop of Henle and at plasma indinavir concentrations and that the increased hydration does not reduce indinavir crystallization risk in the loop of Henle.

Published
2001

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