Filter and export

Publications

227 Publications visible to you, out of a total of 227
Imaging genetics of FOXP2 in dyslexia
Genetical Statistics and Systems Biology

Abstract (Expand)

Dyslexia is a developmental disorder characterised by extensive difficulties in the acquisition of reading or spelling. Genetic influence is estimated at 50-70%. However, the link between genetic … variants and phenotypic deficits is largely unknown. Our aim was to investigate a role of genetic variants of FOXP2, a prominent speech and language gene, in dyslexia using imaging genetics. This technique combines functional magnetic resonance imaging (fMRI) and genetics to investigate relevance of genetic variants on brain activation. To our knowledge, this represents the first usage of fMRI-based imaging genetics in dyslexia. In an initial case/control study (n = 245) for prioritisation of FOXP2 polymorphisms for later use in imaging genetics, nine SNPs were selected. A non-synonymously coding mutation involved in verbal dyspraxia was also investigated. SNP rs12533005 showed nominally significant association with dyslexia (genotype GG odds ratio recessive model = 2.1 (95% confidence interval 1.1-3.9), P = 0.016). A correlated SNP was associated with altered expression of FOXP2 in vivo in human hippocampal tissue. Therefore, influence of the rs12533005-G risk variant on brain activity was studied. fMRI revealed a significant main effect for the factor ’genetic risk’ in a temporo-parietal area involved in phonological processing as well as a significant interaction effect between the factors ’disorder’ and ’genetic risk’ in activation of inferior frontal brain areas. Hence, our data may hint at a role of FOXP2 genetic variants in dyslexia-specific brain activation and demonstrate use of imaging genetics in dyslexia research. Dyslexia is a developmental disorder characterised by extensive difficulties in the acquisition of reading or spelling. Genetic influence is estimated at 50-70%. However, the link between genetic variants and phenotypic deficits is largely unknown. Our aim was to investigate a role of genetic variants of FOXP2, a prominent speech and language gene, in dyslexia using imaging genetics. This technique combines functional magnetic resonance imaging (fMRI) and genetics to investigate relevance of genetic variants on brain activation. To our knowledge, this represents the first usage of fMRI-based imaging genetics in dyslexia. In an initial case/control study (n = 245) for prioritisation of FOXP2 polymorphisms for later use in imaging genetics, nine SNPs were selected. A non-synonymously coding mutation involved in verbal dyspraxia was also investigated. SNP rs12533005 showed nominally significant association with dyslexia (genotype GG odds ratio recessive model = 2.1 (95% confidence interval 1.1-3.9), P = 0.016). A correlated SNP was associated with altered expression of FOXP2 in vivo in human hippocampal tissue. Therefore, influence of the rs12533005-G risk variant on brain activity was studied. fMRI revealed a significant main effect for the factor ’genetic risk’ in a temporo-parietal area involved in phonological processing as well as a significant interaction effect between the factors ’disorder’ and ’genetic risk’ in activation of inferior frontal brain areas. Hence, our data may hint at a role of FOXP2 genetic variants in dyslexia-specific brain activation and demonstrate use of imaging genetics in dyslexia research.

Authors: Arndt Wilcke, Carolin Ligges, Jana Burkhardt, Michael Alexander, Christiane Wolf, Elfi Quente, Peter Ahnert, Per Hoffmann, Albert Becker, Bertram Müller-Myhsok, Sven Cichon, Johannes Boltze, Holger Kirsten

Date Published: 1st Feb 2012

Publication Type: Journal article

Association of rs2069459 in the CDK5 gene with dyslexia in a German cohort
Genetical Statistics and Systems Biology

Abstract

Not specified

Authors: Jana Burkhardt, Holger Kirsten, Heidrun Holland, Wolfgang Krupp, Carolin Ligges, Elfi Quente, Johannes Boltze, Peter Ahnert, Arndt Wilcke

Date Published: 2012

Publication Type: Journal article

Differential allelic expression of IL13 and CSF2 genes associated with asthma
Genetical Statistics and Systems Biology

Abstract (Expand)

An important area of genetic research is the identification of functional mechanisms in polymorphisms associated with diseases. A highly relevant functional mechanism is the influence of polymorphisms … on gene expression levels (differential allelic expression, DAE). The coding single nucleotide polymorphisms (SNPs) CSF2(rs25882) and IL13(rs20541) have been associated with asthma. In this work, we investigated whether the mRNA expression levels of CSF2 or IL13 were correlated with these SNPs. Samples were analyzed by mass spectrometry-based quantification of gene expression. Both SNPs influenced gene expression levels (CSF2(rs25882): p(overall) = 0.008 and p(DAE samples) = 0.00006; IL13(rs20541): p(overall) = 0.059 and p(DAE samples) = 0.036). For CSF2, the expression level was increased by 27.4% (95% CI: 18.5%-35.4%) in samples with significant DAE in the presence of one copy of risk variant CSF2(rs25882-T). The average expression level of IL13 was increased by 29.8% (95% CI: 3.1%-63.4%) in samples with significant DAE in the presence of one copy of risk variant IL13(rs20541-A). Enhanced expression of CSF2 could stimulate macrophages and neutrophils during inflammation and may be related to the etiology of asthma. For IL-13, higher expression could enhance the functional activity of the asthma-associated isoform. Overall, the analysis of DAE provides an efficient approach for identifying possible functional mechanisms that link disease-associated variants with altered gene expression levels.

Authors: Jana Burkhardt, Holger Kirsten, Grit Wolfram, Elfi Quente, Peter Ahnert

Date Published: 2012

Publication Type: Journal article

Association study of a functional genetic variant in KIAA0319 in German dyslexics
Genetical Statistics and Systems Biology

Abstract

Not specified

Authors: Holger Kirsten, Arndt Wilcke, Carolin Ligges, Johannes Boltze, Peter Ahnert

Date Published: 2012

Publication Type: Journal article

Pre-operative Tei Index does not predict left ventricular function immediately after mitral valve repair
Genetical Statistics and Systems Biology

Abstract (Expand)

Echocardiographic assessment of systolic left ventricular (LV) function in patients with severe mitral regurgitation (MR) undergoing mitral valve (MV) repair can be challenging because the measurement … of ejection fraction (EF) or fractional area change (FAC) in pathological states is of questionable value. The aim of our study was to evaluate the usefulness of the pre-operative Tei Index in predicting left ventricular EF or FAC immediately after MV repair. One hundred and thirty patients undergoing MV repair with sinus rhythm pre- and post-operatively were enrolled in this prospective study. Twenty-six patients were excluded due to absence of sinus rhythm post-operatively. Standard transesophageal examination (IE 33, Philips, Netherlands) was performed before and after cardiopulmonary bypass according to the guidelines of the ASE/SCA. FAC was determined in the transgastric midpapillary short-axis view. LV EF was measured in the midesophageal four- and two-chamber view. For calculation of the Tei Index, the deep transgastric and the midesophageal four-chamber view were used. Statistical analysis was performed with SPSS 17.0. values are expressed as mean with standard deviation. LV FAC and EF decreased significantly after MV repair (FAC: 56\pm12% vs. 50\pm14%, P\textless0.001; EF: 58\pm11 vs. 50\pm12\textgreek’E P\textless0.001). The Tei Index decreased from 0.66\pm0.23 before MV repair to 0.41\pm0.19 afterwards (P\textless0.001). No relationship between pre-operative Tei Index and post-operative FAC or post-operative EF were found (FAC: r=-0.061, P=0.554; EF: r=-0.29, P=0.771). Conclusion: Pre-operative Tei Index is not a good predictor for post-operative FAC and EF in patients undergoing MV repair.

Authors: Chirojit Mukherjee, Steffen Groeger, Maurice Hogan, Markus Scholz, Udo X. Kaisers, Joerg Ender

Date Published: 2012

Publication Type: Journal article

Intrathecal morphine is superior to intravenous PCA in patients undergoing minimally invasive cardiac surgery
Genetical Statistics and Systems Biology

Abstract (Expand)

Aim of our study was to evaluate the beneficial effect of low dose intrathecal morphine on postoperative analgesia, over the use of intravenous patient controlled anesthesia (PCA), in patients undergoing … fast track anesthesia during minimally invasive cardiac surgical procedures. A randomized controlled trial was undertaken after approval from local ethical committee. Written informed consent was obtained from 61 patients receiving mitral or tricuspid or both surgical valve repair in minimal invasive technique. Patients were assigned randomly to 2 groups. Group 1 received general anesthesia and intravenous patient controlled analgesia (PCA) pump with Piritramide (GA group). Group 2 received a single shot of intrathecal morphine (1.5 \textgreekmg/kg body weight) prior to the administration of general anesthesia (ITM group). Site of puncture was confined to lumbar (L1-2 or L2-3) intrathecal space. The amount of intravenous piritramide used in post anesthesia care unit (PACU) and the first postoperative day was defined as primary end point. Secondary end points included: time for tracheal extubation, pain and sedation scores in PACU upto third postoperative day. For statistical analysis Mann-Whitney-U Test and Fishers exact test (SPSS) were used. We found that the demand for intravenous opioids in PACU was significantly reduced in ITM group (P \textless0.001). Pain scores were significantly decreased in ITM group until second postoperative day (P \textless0.01). There was no time delay for tracheal extubation in ITM group, and sedation scores did not differ in either group. We conclude that low dose single shot intrathecal morphine provides adequate postoperative analgesia, reduces the intravenous opioid consumption during the early postoperative period and does not defer early extubation.

Authors: Chirojit Mukherjee, Eva Koch, Joergen Banusch, Markus Scholz, Udo X. Kaisers, Joerg Ender

Date Published: 2012

Publication Type: Journal article

Biomathematische Modellierung von Therapiewirkungen bei Lymphomerkrankungen - Ein Beitrag zur Medizinischen Systembiologie
Genetical Statistics and Systems Biology

Abstract

Not specified

Author: Markus Scholz

Date Published: 2012

Publication Type: Journal article

Navigate

Health Atlas - Local Data Hub/Leipzig

The Health Atlas - Local Data Hub/Leipzig is an alliance of medical ontologists, medical systems biologists and clinical trials groups to design and implement a multi-functional and quality-assured atlas. It provides models, data and metadata on specific use cases from medical research fields.

Registered Repository

re3data.org Badge
Powered by
 (v.1.13.0-master)
Health Atlas | Funding and Programmes | Credits | Terms & Conditions | Privacy Policy | Imprint
Copyright © 2008 - 2021 The University of Manchester and HITS gGmbH
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig

By continuing to use this site you agree to the use of cookies