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958 Publications visible to you, out of a total of 958
Genome-wide analysis of carotid plaque burden suggests a role of IL5 in men.
Genetical Statistics and Systems Biology

Abstract (Expand)

BACKGROUND: Carotid artery plaque is an established marker of subclinical atherosclerosis with pronounced sex-dimorphism. Here, we aimed to identify genetic variants associated with carotid plaque … burden (CPB) and to examine potential sex-specific genetic effects on plaque sizes. METHODS AND RESULTS: We defined six operationalizations of CPB considering plaques in common carotid arteries, carotid bulb, and internal carotid arteries. We performed sex-specific genome-wide association analyses for all traits in the LIFE-Adult cohort (n = 727 men and n = 550 women) and tested significantly associated loci for sex-specific effects. In order to identify causal genes, we analyzed candidate gene expression data for correlation with CPB traits and corresponding sex-specific effects. Further, we tested if previously reported SNP associations with CAD and plaque prevalence are also associated with CBP. We found seven loci with suggestive significance for CPB (p<3.33x10-7), explaining together between 6 and 13% of the CPB variance. Sex-specific analysis showed a genome-wide significant hit for men at 5q31.1 (rs201629990, beta = -0.401, p = 5.22x10-9), which was not associated in women (beta = -0.127, p = 0.093) with a significant difference in effect size (p = 0.008). Analyses of gene expression data suggested IL5 as the most plausible candidate, as it reflected the same sex-specific association with CPBs (p = 0.037). Known plaque prevalence or CAD loci showed no enrichment in the association with CPB. CONCLUSIONS: We showed that CPB is a complementary trait in analyzing genetics of subclinical atherosclerosis. We detected a novel locus for plaque size in men only suggesting a role of IL5. Several estrogen response elements in this locus point towards a functional explanation of the observed sex-specific effect.

Authors: J. Pott, F. Beutner, K. Horn, H. Kirsten, K. Olischer, K. Wirkner, M. Loeffler, M. Scholz

Date Published: 30th May 2020

Publication Type: Journal article

Human Diseases: cardiovascular system disease, atherosclerosis

Progene – A Large-scale, High-Quality Protein-Gene Annotated Benchmark Corpus
SMITH - Smart Medical Information Technology for Healthcare

Abstract

Not specified

Authors: Erik Faessler, L. Modersohn, C. Lohr, U. Hahn

Date Published: 11th May 2020

Publication Type: InProceedings

Alemtuzumab plus CHOP versus CHOP in elderly patients with peripheral T-cell lymphoma: the DSHNHL2006-1B/ACT-2 trial.
GLA - German Lymphoma Alliance

Abstract (Expand)

PTCL patients exhibit poor survival with existing treatments. We investigated the efficacy of CHOP combined with alemtuzumab in 116 PTCL patients age 61-80 in an open-label, randomized phase 3 trial. … Alemtuzumab was given on day 1, to a total of 360 mg in 21 patients, or 120 mg in 37. Hematotoxicity was increased with A-CHOP resulting in more grade >/=3 infections (40% versus 21%) and 4 versus 1 death due to infections, respectively. CR/CRu rate was 60% for A-CHOP and 43% for CHOP, and OR rate was 72% and 66%, respectively. Three-year-EFS, PFS and OS were 27% [15%-39%], 28% [15%-40%], and 37% ([23%-50%] for A-CHOP, and 24% [12%-35%], 29% [17%-41%], and 56% [44%-69%] for CHOP, respectively, showing no significant differences. Multivariate analyses, adjusted for strata and sex confirmed these results (hazard ratio HREFS: 0.7 ([95% CI: 0.5-1.1]; p = 0.094), HRPFS: 0.8 ([95% CI: 0.5-1.2]; p = 0.271), HROS: 1.4 ([95% CI: 0.9-2.4]; p = 0.154). The IPI score was validated, and male sex (HREFS 2.5) and bulky disease (HREFS 2.2) were significant risk factors for EFS, PFS, and OS. Alemtuzumab added to CHOP increased response rates, but did not improve survival due to treatment-related toxicity.

Authors: G. G. Wulf, B. Altmann, M. Ziepert, F. D'Amore, G. Held, R. Greil, O. Tournilhac, T. Relander, A. Viardot, M. Wilhelm, C. Wilhelm, A. Pezzutto, J. M. Zijlstra, E. V. D. Neste, P. J. Lugtenburg, J. K. Doorduijn, M. V. Gelder, G. W. van Imhoff, F. Zettl, F. Braulke, M. Nickelsen, B. Glass, A. Rosenwald, P. Gaulard, M. Loeffler, M. Pfreundschuh, N. Schmitz, L. Trumper

Date Published: 10th May 2020

Publication Type: Journal article

Human Diseases: lymphoma, peripheral T-cell lymphoma

Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood.
Genetical Statistics and Systems Biology

Abstract (Expand)

Epidemiology studies suggested that low birthweight was associated with a higher risk of hypertension in later life. However, little is known about the causality of such associations. In our study, we … evaluated the causal association of low birthweight with adulthood hypertension following a standard analytic protocol using the study-level data of 183,433 participants from 60 studies (CHARGE-BIG consortium), as well as that with blood pressure using publicly available summary-level genome-wide association data from EGG consortium of 153,781 participants, ICBP consortium and UK Biobank cohort together of 757,601 participants. We used seven SNPs as the instrumental variable in the study-level analysis and 47 SNPs in the summary-level analysis. In the study-level analyses, decreased birthweight was associated with a higher risk of hypertension in adults (the odds ratio per 1 standard deviation (SD) lower birthweight, 1.22; 95% CI 1.16 to 1.28), while no association was found between genetically instrumented birthweight and hypertension risk (instrumental odds ratio for causal effect per 1 SD lower birthweight, 0.97; 95% CI 0.68 to 1.41). Such results were consistent with that from the summary-level analyses, where the genetically determined low birthweight was not associated with blood pressure measurements either. One SD lower genetically determined birthweight was not associated with systolic blood pressure (\textgreekb = - 0.76, 95% CI - 2.45 to 1.08 mmHg), 0.06 mmHg lower diastolic blood pressure (\textgreekb = - 0.06, 95% CI - 0.93 to 0.87 mmHg), or pulse pressure (\textgreekb = - 0.65, 95% CI - 1.38 to 0.69 mmHg, all p \textgreater 0.05). Our findings suggest that the inverse association of birthweight with hypertension risk from observational studies was not supported by large Mendelian randomization analyses.

Authors: Yan Zheng, Tao Huang, Tiange Wang, Zhendong Mei, Zhonghan Sun, Tao Zhang, Christina Ellervik, Jin-Fang Chai, Xueling Sim, Rob M. van Dam, E-Shyong Tai, Woon-Puay Koh, Rajkumar Dorajoo, Seang-Mei Saw, Charumathi Sabanayagam, Tien Yin Wong, Preeti Gupta, Peter Rossing, Tarunveer S. Ahluwalia, Rebecca K. Vinding, Hans Bisgaard, Klaus Bønnelykke, Yujie Wang, Mariaelisa Graff, Trudy Voortman, Frank J. A. van Rooij, Albert Hofman, Diana van Heemst, Raymond Noordam, Angela C. Estampador, Tibor V. Varga, Cornelia Enzenbach, Markus Scholz, Joachim Thiery, Ralph Burkhardt, Marju Orho-Melander, Christina-Alexandra Schulz, Ulrika Ericson, Emily Sonestedt, Michiaki Kubo, Masato Akiyama, Ang Zhou, Tuomas O. Kilpeläinen, Torben Hansen, Marcus E. Kleber, Graciela Delgado, Mark McCarthy, Rozenn N. Lemaitre, Janine F. Felix, Vincent W. V. Jaddoe, Ying Wu, Karen L. Mohlke, Terho Lehtimäki, Carol A. Wang, Craig E. Pennell, Heribert Schunkert, Thorsten Kessler, Lingyao Zeng, Christina Willenborg, Annette Peters, Wolfgang Lieb, Veit Grote, Peter Rzehak, Berthold Koletzko, Jeanette Erdmann, Matthias Munz, Tangchun Wu, Meian He, Caizheng Yu, Cécile Lecoeur, Philippe Froguel, Dolores Corella, Luis A. Moreno, Chao-Qiang Lai, Niina Pitkänen, Colin A. Boreham, Paul M. Ridker, Frits R. Rosendaal, Renée de Mutsert, Chris Power, Lavinia Paternoster, Thorkild I. A. Sørensen, Anne Tjønneland, Kim Overvad, Luc Djousse, Fernando Rivadeneira, Nanette R. Lee, Olli T. Raitakari, Mika Kähönen, Jorma Viikari, Jean-Paul Langhendries, Joaquin Escribano, Elvira Verduci, George Dedoussis, Inke König, Beverley Balkau, Oscar Coltell, Jean Dallongeville, Aline Meirhaeghe, Philippe Amouyel, Frédéric Gottrand, Katja Pahkala, Harri Niinikoski, Elina Hyppönen, Winfried März, David A. Mackey, Dariusz Gruszfeld, Katherine L. Tucker, Frédéric Fumeron, Ramon Estruch, Jose M. Ordovas, Donna K. Arnett, Dennis O. Mook-Kanamori, Dariush Mozaffarian, Bruce M. Psaty, Kari E. North, Daniel I. Chasman, Lu Qi

Date Published: 7th May 2020

Publication Type: Journal article

Management of ARDS: From ventilation strategies to intelligent technical support – Connecting the dots
SMITH - Smart Medical Information Technology for Healthcare

Abstract

Not specified

Authors: Julian Kunze, Sebastian Fritsch, Arne Peine, Oliver Maaßen, Gernot Marx, Johannes Bickenbach

Date Published: 1st May 2020

Publication Type: Journal article

The emergence of dyslexia in the developing brain
Genetical Statistics and Systems Biology

Abstract (Expand)

Developmental dyslexia, a severe deficit in literacy learning, is a neurodevelopmental learning disorder. Yet, it is not clear whether existing neurobiological accounts of dyslexia capture potential … predispositions of the deficit or consequences of reduced reading experience. Here, we longitudinally followed 32 children from preliterate to school age using functional and structural magnetic resonance imaging techniques. Based on standardised and age-normed reading and spelling tests administered at school age, children were classified as 16 dyslexic participants and 16 controls. This longitudinal design allowed us to disentangle possible neurobiological predispositions for developing dyslexia from effects of individual differences in literacy experience. In our sample, the disorder can be predicted already before literacy learning from auditory cortex gyrification and aberrant downstream connectivity within the speech processing system. These results provide evidence for the notion that dyslexia may originate from an atypical maturation of the speech network that precedes literacy instruction.

Authors: Ulrike Kuhl, Nicole E. Neef, Indra Kraft, Gesa Schaadt, Liane Dörr, Jens Brauer, Ivonne Czepezauer, Bent Müller, Arndt Wilcke, Holger Kirsten, Frank Emmrich, Johannes Boltze, Angela D. Friederici, Michael A. Skeide

Date Published: 1st May 2020

Publication Type: Journal article

Adipocytokines are not associated with gestational diabetes mellitus but with pregnancy status.
Genetical Statistics and Systems Biology

Abstract (Expand)

AIMS Adipose tissue-secreted proteins, i.e. adipocytokines, have been identified as potential mediators linking fat mass and adipose tissue dysfunction with impaired glucose homeostasis, alterations …s in the inflammatory status, and risk of diabetes. The aim of this study was to determine whether seven circulating adipocytokines are associated with gestational diabetes mellitus (GDM) or are altered by metabolic and weight changes during pregnancy itself. METHODS A panel of seven adipocytokines (i.e. adiponectin, adipocyte fatty acid-binding protein, chemerin, leptin, Pro-Enkephalin, progranulin, and Pro-Neurotensin) was quantified in serum in a cross-sectional cohort of 222 women with the following three groups matched for age and body mass index: (i) 74 pregnant women with GDM; (ii) 74 pregnant women without GDM; and (iii) 74 non-pregnant and healthy women. A stepwise statistical approach was used by performing pairwise comparisons, principal component analysis (PCA), and partial least square discriminant analysis (PLS-DA). RESULTS Five out of seven adipocytokines were dysregulated between pregnant and non-pregnant women, i.e. adiponectin, chemerin, leptin, Pro-Enkephalin, and progranulin. None of the adipocytokines significantly differed between GDM and non-GDM status during pregnancy. The same five adipocytokines clustered in a principal component representing pregnancy-induced effects. Fasting insulin was the most relevant parameter in the discrimination of GDM as compared to pregnant women without GDM, whereas chemerin and adiponectin were most relevant factors to discriminate pregnancy status. CONCLUSIONS Pregnancy status but not presence of GDM can be distinguished by the seven investigated adipocytokines in discrimination analyses.

Authors: Thomas Ebert, Claudia Gebhardt, Markus Scholz, Dorit Schleinitz, Matthias Blüher, Michael Stumvoll, Peter Kovacs, Mathias Fasshauer, Anke Tönjes

Date Published: 10th Apr 2020

Publication Type: Journal article

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