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See detailModulating effect of COMT genotype on the brain regions underlying proactive control process during inhibition
Jaspar, Mathieu ULg; Genon, Sarah ULg; Muto, Vincenzo ULg et al

in Cortex : A Journal Devoted to the Study of the Nervous System & Behavior (2014), 50

Introduction. Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met polymorphism) has received increasing attention as a possible modulator of cognitive control functions ... [more ▼]

Introduction. Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met polymorphism) has received increasing attention as a possible modulator of cognitive control functions. Methods. In an event-related fMRI study, a modified version of the Stroop task was administered to three groups of 15 young adults according to their COMT Val158Met genotype [Val/Val (VV), Val/Met (VM) and Met/Met (MM)]. Based on the theory of dual mechanisms of control (Braver, et al., 2007), the Stroop task has been built to induce proactive or reactive control processes according to the task context. Results. Behavioral results did not show any significant group differences for reaction times but Val allele carriers individuals are less accurate in the processing of incongruent items. fMRI results revealed that proactive control is specifically associated with increased activity in the anterior cingulate cortex (ACC) in carriers of the Met allele, while increased activity is observed in the middle frontal gyrus (MFG) in carriers of the Val allele. Conclusion. These observations, in keeping with a higher cortical dopamine level in MM individuals, support the hypothesis of a COMT Val158Met genotype modulation of the brain regions underlying proactive control, especially in frontal areas as suggested by Braver et al. [less ▲]

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See detailAltered white matter architecture in BDNF Met carriers
Ziegler, Erik ULg; Foret, Ariane; Mascetti, Laura ULg et al

in PLoS ONE (2013)

Brain-derived neurotrophic factor (BDNF) modulates the pruning of synaptically-silent axonal arbors. The Met allele of the BDNF gene is associated with a reduction in the neurotrophin's activity-dependent ... [more ▼]

Brain-derived neurotrophic factor (BDNF) modulates the pruning of synaptically-silent axonal arbors. The Met allele of the BDNF gene is associated with a reduction in the neurotrophin's activity-dependent release. We used di ffusion-weighted imaging to construct structural brain networks for 36 healthy subjects with known BDNF genotypes. Through permutation testing we discovered clear di fferences in connection strength between subjects carrying the Met allele and those homozygotic for the Val allele. We trained a Gaussian process classi fier capable of identifying the subjects' allelic group with 86% accuracy and high predictive value. In Met carriers structural connectivity was greatly increased throughout the forebrain, particularly in connections corresponding to the anterior and superior corona radiata as well as corticothalamic and corticospinal projections from the sensorimotor, premotor and prefrontal portions of the internal capsule. Interhemispheric connectivity was also increased via the corpus callosum and anterior commissure, and extremely high connectivity values were found between inferior medial frontal polar regions via the anterior forceps. We propose that the decreased availability of BDNF leads to de cifits in axonal maintenance in carriers of the Met allele, and that this produces mesoscale changes in white matter architecture. [less ▲]

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See detailConnectome-based classification of BDNF Met allele carriers
Ziegler, Erik ULg; Foret, Ariane; Mascetti, Laura ULg et al

Poster (2013, June)

Secretion of brain-derived neurotrophic factor (BDNF) is essential for synaptic plasticity in the central nervous system during neurodevelopment [Huang]. A common human non-synonymous SNIP in the BDNF ... [more ▼]

Secretion of brain-derived neurotrophic factor (BDNF) is essential for synaptic plasticity in the central nervous system during neurodevelopment [Huang]. A common human non-synonymous SNIP in the BDNF gene (Val66Met, rs6265) decreases activity-dependent BDNF release in neurons transfected with the human A allele (Met-BDNF). We reasoned that the persistent differential activity-dependent BDNF release implied by this polymorphism should also be associated with differences in adult brain structure. The study population comprised 36 healthy subjects (aged 18-25): 15 (9 male) were identified as carrying the Met allele (“Met carrier” group) and 21 (9 male) were homozygotes for the Val allele (“Val/Val” group). The groups did not vary significantly in IQ, age nor scores for a battery of psychological tests. A high-resolution T1-weighted image (sMRI), 7 unweighted (b=0) and a set of diffusion-weighted (b=1000) images using 61 non-collinear directional gradients were acquired for each subject. The processing workflow relied on several pieces of software and was developed in Python and Nipype. The sMRIs were segmented using the automated labeling of Freesurfer [Desikan] and further parcellated using the Lausanne2008 atlas into 1015 regions of interest (ROIs) [Cammoun]. DWIs were corrected for image distortions (due to eddy currents) using linear coregistration functions from FSL [Smith]. Fractional anisotropy maps were generated, and a few single-fiber (high FA) voxels were used to estimate the spherical harmonic coefficients (order 8) of the response function from the DWIs [Tournier]. Then orientation distribution functions were obtained at each voxel. Probabilistic tractography was performed throughout the whole brain using seeds from subject-specific white-matter masks and a predefined number of tracts (300,000), see Fig. 1. The tracks were affine-transformed into the subject's structural space with Dipy [Garyfallidis]. Connectome mapping was performed by considering every contact point between each tract and the outlined ROIs (unlike in [Hagmann]): the connectivity matrix was incremented every time a single fiber traversed between any two ROIs. We trained a Gaussian Process Classifier [Rasmussen] (interfaced by PRoNTo [Schrouff]) on these connectivity matrices. The accuracy and generalization ability of the classification were assessed with a leave-one-subject-out cross-validation procedure. With this linear kernel method weights were also obtained indicating the contribution to the classification output (in favor of either genotypic group) of each edge in the network. The same method was employed to discriminate features related to the subjects' gender and genotype for the ADA gene. The classifier was able to discriminate between Val/Val and Met carriers with 86.1% balanced accuracy. The predictive value for the Val/Val and Met carrier groups were 94.4% (p=0.001) and 77.8% (p=0.003), respectively. In Fig. 2 the weights obtained by the classifier are visualized as edges in the brain network. For the classifier trained to identify gender or the subjects' ADA genotype, the global accuracy reached 63.9% (n.s.) and 58.3% (n.s.) respectively. Using high-resolution connectome mapping from normal young healthy human volunteers grouped based on the Met allele of the BNDF gene, we show that the BDNF genotype of an individual can be significantly identified from his structural brain wiring. These differences appear specific to this allele; no such difference could be found for the polymorphism in the ADA gene, or even for gender. We propose that the decreased availability of BDNF leads to deficits in axonal maintenance in Met carriers, and that this produces mesoscale changes in white matter architecture. Acknowledgements: the FNRS, the ULg, the Queen Elisabeth Medical Foundation, the Léon Fredericq Foundation, the Belgian Inter-University Attraction Program, the Welbio program, and the MCITN in Neurophysics (PITN-GA-2009-238593). Cammoun L. et al. (2011), ‘Mapping the human connectome at multiple scales with diffusion spectrum MRI’, J Neuroscience Methods, 203:386–397. Desikan R.S. et al. (2006), ‘An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest’, Neuroimage, 31:968-980. Hagmann P. et al. (2008), ‘Mapping the structural core of human cerebral cortex’, PLoS Biology, 6:e159 Huang E.J., Reichardt L.F. (2001), ‘Neurotrophins: roles in neuronal development and function’, Annual Review of Neuroscience, 24:677-736. Garyfallidis E. et al. (2011), ‘Dipy - a novel software library for diffusion MR and tractography’, 17th Annual Meeting of the Organization for Human Brain Mapping. http://nipy.sourceforge.net/dipy/ Rasmussen C.E. (2006), Gaussian processes for machine learning. Schrouff J. et al. (2012), ‘PRoNTo: Pattern Recognition for Neuroimaging Toolbox’, 18th Annual Meeting of the Organization for Human Brain Mapping. http://www.mlnl.cs.ucl.ac.uk/pronto Smith S.M. et al. (2004), ‘Advances in functional and structural MR image analysis and implementation as FSL’, Neuroimage, 23 Suppl 1:S208-S219. Tournier J.D., et al. (2007), ‘Robust determination of the fibre orientation distribution in diffusion MRI: non-negativity constrained super-resolved spherical deconvolution’, Neuroimage, 35:1459-1472. [less ▲]

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See detailConcurrent Synaptic and Systems Memory Consolidation during Sleep
Mascetti, Laura; Foret, Ariane; Schrouff, Jessica ULg et al

in Journal of Neuroscience (2013), 33(24), 10182-10190

Memories are consolidated during sleep by two apparently antagonistic processes: (1) reinforcement of memory-specific cortical interactions and (2) homeostatic reduction in synaptic efficiency. Using fMRI ... [more ▼]

Memories are consolidated during sleep by two apparently antagonistic processes: (1) reinforcement of memory-specific cortical interactions and (2) homeostatic reduction in synaptic efficiency. Using fMRI, we assessed whether episodic memories are processed during sleep by either or both mechanisms, by comparing recollection before and after sleep. We probed whether LTP influences these processes by contrasting two groups of individuals prospectively recruited based on BDNF rs6265 (Val66Met) polymorphism. Between immediate retrieval and delayed testing scheduled after sleep, responses to recollection increased significantly more in Val/Val individuals than in Met carriers in parietal and occipital areas not previously engaged in retrieval, consistent with “systems-level consolidation.” Responses also increased differentially between allelic groups in regions already activated before sleep but only in proportion to slow oscillation power, in keeping with “synaptic downscaling.” Episodic memories seem processed at both synaptic and systemic levels during sleep by mechanisms involving LTP. [less ▲]

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See detailDeleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Lopez-Herrera, Gabriela; Tampella, Giacomo; Pan-Hammarstrom, Qiang et al

in American Journal of Human Genetics (2012), 90(6), 986-1001

Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive ... [more ▼]

Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral immune deficiency and features of autoimmunity shared genotype evidence for a linkage interval on chromosome 4q. Sequencing of positional candidate genes revealed that in each family, affected individuals had a distinct homozygous mutation in LRBA (lipopolysaccharide responsive beige-like anchor protein). All LRBA mutations segregated with the disease because homozygous individuals showed hypogammaglobulinemia and autoimmunity, whereas heterozygous individuals were healthy. These mutations were absent in healthy controls. Individuals with homozygous LRBA mutations had no LRBA, had disturbed B cell development, defective in vitro B cell activation, plasmablast formation, and immunoglobulin secretion, and had low proliferative responses. We conclude that mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, all of which are associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity. [less ▲]

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See detailIL28B polymorphism and the control of hepatitis C virus infection: ready for clinical use?
Orlent, Hans; Reynaert, Hendrik; Bourgeois, Stefan et al

in Acta Gastro-Enterologica Belgica (2011), 74(2), 317-322

Polymorphisms in the region of the interleukin-28B (IL28B) gene have recently been associated with spontaneous and treatment induced clearance of hepatitis C virus infection. The specific mechanisms of ... [more ▼]

Polymorphisms in the region of the interleukin-28B (IL28B) gene have recently been associated with spontaneous and treatment induced clearance of hepatitis C virus infection. The specific mechanisms of how IL28B polymorphisms affect HCV suppression remain unknown. It is a matter of ongoing debate how to incorporate the IL28B data into the current treatment algorithms with pegylated interferon-alpha and ribavirin. The eventual role of the IL28B genotype in new therapeutic regimes with direct antiviral agents needs to be explored in the ongoing and future clinical studies with these agents. [less ▲]

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See detailInfluence of brain-derived neurotrophic factor val66met human polymorphism on declarative memory consolidation
Mascetti, Laura ULg; Foret, Ariane ULg; Matarazzo, Luca et al

Poster (2010, November 15)

The Brain-Derived Neurotrophic Factor (BDNF) is a neurotrophin which in the adult brain regulates long-term potentiation. In humans, valine (val) to methionine (met) substitution in the 5’ pro-region of ... [more ▼]

The Brain-Derived Neurotrophic Factor (BDNF) is a neurotrophin which in the adult brain regulates long-term potentiation. In humans, valine (val) to methionine (met) substitution in the 5’ pro-region of the BDNF protein is associated with poorer episodic memory. Neurons transfected with met-BDNF-Green Fluorescence Protein showed lower depolarization-induced secretion, while constitutive secretion is unchanged. Here, we hypothesized that the differences in BDNF release determined by this polymorphism would influence memory consolidation and that in comparison with the val/met (=val/met or met/met), val/val individuals would show higher memory performance and different brain responses during a 16h-delayed rather than immediate retrieval session. Participants encoded a series of neutral faces in the afternoon. Retrieval sessions took place one hour after the encoding session, and in the following morning, during the acquisition of functional Magnetic Resonance Imaging (fMRI) time series with a 3 Tesla Allegra scanner. During retrieval, studied faces and new ones were presented in random order. For each stimulus, the subjects indicated whether they could retrieve the encoding episode with (“Remember”), or without details (“Know”), or if they thought the item had not been presented during encoding (“New”). A repeated-measure ANOVA on discrimination index (d’) showed significant effects of group (F(1, 27)=8.65, p=0.007, n(val/val)=14, n(val/met)=15) and session (F(1, 27)=24.64, p=0.000), although the group by session interaction was not significant (F(1, 27)=1.29, p=0.267). fMRI results showed a significant genotype (val/val > val/met) by session (delayed > immediate retrieval) by memory type (Remember > Know) interaction in the right inferior occipital gyrus (x=42, y=-78, z=0, p=0.004, Z=3.77), the left inferior parietal lobule (x=-56, y=-40, z=48, p=0.013, Z=3.43), the posterior cingulate cortex (x=14, y=-42, z=42, p=0.019, Z=3.29) and the right hippocampus (x=28, y=-22, z=-22, p=0.03, Z=3.11). Val/val individuals demonstrate higher memory performance than met-carriers but the change in memory performance between immediate and delayed retests is similar in both allelic groups. In contrast, neural correlates of recollection change between sessions differently according to genotype: responses increase significantly more in val/val than in val/met individuals in brain areas involved in the retrieval, accumulation and binding of perceptual memory details during delayed, relative to immediate retest. These data suggest that activity-dependent BDNF release promotes memory consolidation during the first post-training hours. [less ▲]

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See detailInfluence of Brain-Derived Neurotrophic Factor val66met human polymorphism on declarative memory consolidation during sleep
Mascetti, Laura ULg; Foret, Ariane ULg; Matarazzo, Luca et al

Poster (2010, September 15)

Objectives The Brain-Derived Neurotrophic Factor (BDNF) is a neurotrophin which in the adult brain, regulates long-term potentiation and has been involved in the build up of the homeostatic sleep pressure ... [more ▼]

Objectives The Brain-Derived Neurotrophic Factor (BDNF) is a neurotrophin which in the adult brain, regulates long-term potentiation and has been involved in the build up of the homeostatic sleep pressure in rodents. In humans, valine (val) to methionine (met) substitution in the 5’ pro-region of the BDNF protein is associated with poorer episodic memory. Neurons transfected with met-BDNF-Green Fluorescence Protein showed lower depolarization-induced secretion, while constitutive secretion is unchanged. Here, we hypothesized that the differences in BDNF release determined by this polymorphism would influence sleep-dependent memory consolidation and that in comparison with the met-carriers (val/met or met/met), val/val individuals would show higher memory performance after one night of sleep rather than an immediate retrieval session. Methods Participants encoded a series of neutral faces in the afternoon. Retrieval sessions took place one hour after the encoding session, and in the following morning, after a night of polysomnographic-monitored sleep. During retrieval, studied faces and new ones were presented in random order. For each stimulus, the subjects indicated whether they could retrieve the encoding episode with (“Remember” response), or without details (“know” response), or if they thought the item had not been presented during encoding (“New” response). Results A repeated-measure ANOVA on discrimination index (d’) showed significant effects of group (F(1, 22)=4.66, p=0.042) and session (F(1, 22)=12.21, df=1, p=0.002). Although the group by session interaction was not significant (F(1, 22)=1.84, p=0.188), exploratory planned comparisons showed that at immediate retrieval, d’ was not significantly different between groups (val/val, d’ = 1.94±0.16; met-carriers, d’= 1.61±0.14; p>0.5). In contrast, during the second retest (the next day) d’ in the val/val group (d’=2.56±0.23) was significantly higher than in the met-carriers group (d’=1.88±0.21; p=0.041). Likewise, a between-session enhancement in d’ was detected only in the val/val population (p=0.003). Conclusion Val/val individuals demonstrate higher memory performance than met-carriers after a night of sleep but not at immediate retest. These data suggest that activity-dependent BDNF release promotes memory consolidation during the first post-training hours. Further analysis of the present data set will assess the respective effect of sleep and time on the BDNF-associated delayed memory enhancement. This study was supported by FNRS-FRIA, the University of Liège, and the QEMF. [less ▲]

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See detailAn insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases
Dideberg, Vinciane ULg; Kristjansdottir, G.; Milani, L. et al

in Human Molecular Genetics (2007), 16(24), 3008-3016

The interferon regulatory factor 5 (IRF5) gene encodes a transcription factor that plays an important role in the innate as well as in the cell-mediated immune responses. The IRF5 gene has been shown to ... [more ▼]

The interferon regulatory factor 5 (IRF5) gene encodes a transcription factor that plays an important role in the innate as well as in the cell-mediated immune responses. The IRF5 gene has been shown to be associated with systemic lupus erythematosus and rheumatoid arthritis. We studied whether the IRF5 gene is also associated with inflammatory bowel diseases (IBD), Crohn disease (CD) and ulcerative colitis (UC). Twelve polymorphisms in the IRF5 gene were genotyped in a cohort of 1007 IBD patients (748 CD and 254 UC) and 241 controls from Wallonia, Belgium. The same polymorphisms were genotyped in a confirmatory cohort of 311 controls and 687 IBD patients (488 CD and 192 UC) from Leuven, Belgium. A strong signal of association [P=1.9x10(-5), odds ratio (OR) 1.81 (1.37-2.39)] with IBD was observed for a 5 bp indel (CGGGG) polymorphism in the promoter region of the IRF5 gene. The association was detectable also in CD patients (P=6.8x10(-4)) and was particularly strong among the UC patients [P=5.3x10(-8), OR=2.42 (1.76-3.34)]. The association of the CGGGG indel was confirmed in the second cohort [P=3.2x10(-5), OR=1.59 (1.28-1.98)]. The insertion of one CGGGG unit is predicted to create an additional binding site for the transcription factor SP1. Using an electrophoretic mobility shift assay, we show allele-specific differences in protein binding to this repetitive DNA-stretch, which suggest a potential function role for the CGGGG indel. [less ▲]

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See detailThe TNF/ADAM 17 system: implication of an ADAM 17 haplotype in the clinical response to infliximab in Crohn's disease
Dideberg, Vinciane ULg; Theatre, Emilie ULg; Farnir, Frédéric ULg et al

in European Journal of Clinical Investigation (2007, May), 37(Suppl. 1), 79

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See detailPharmacogenetics of infliximab in Crohn's disease
Dideberg, Vinciane ULg; Louis, Edouard ULg; Bours, Vincent ULg

in Acta Endoscopica (2007), 37(4), 521-530

Pharmacogenetic studies will certainly contribute to a better management of medication in inflammatory bowel diseases. Infliximab is the most efficient drug in refractory and fistulising Crohn's disease ... [more ▼]

Pharmacogenetic studies will certainly contribute to a better management of medication in inflammatory bowel diseases. Infliximab is the most efficient drug in refractory and fistulising Crohn's disease. However, about one third of the patients do not respond to this treatment. Several studies have been performed to identify predictive factors of the response to infliximab in CD. We attempt to summarize the current knowledge on the use of infliximab in CD and focus on the result of these studies and more particularly on pharmacogenetic aspects. [less ▲]

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See detailLes maladies inflammatoires chroniques intestinales : de la génétique au traitement
Louis, Edouard ULg; Bours, Vincent ULg; Dideberg, Vinciane ULg et al

in Revue Médicale de Liège (2007), 62

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See detailThe Tnf/Adam 17 System: Implication of an Adam 17 Haplotype in the Clinical Response to Infliximab in Crohn's Disease
Dideberg, Vinciane ULg; Theatre, Emilie ULg; Farnir, Frédéric ULg et al

in Pharmacogenetics and Genomics (2006), 16(10), 727-734

Infliximab, a chimeric anti-tumour necrosis factor (TNF)-alpha antibody induces a clinical response in 70% of Crohn's disease patients and the response to infliximab therapy could be partially determined ... [more ▼]

Infliximab, a chimeric anti-tumour necrosis factor (TNF)-alpha antibody induces a clinical response in 70% of Crohn's disease patients and the response to infliximab therapy could be partially determined by genetic factors. The implication of both transmembrane and soluble forms of the TNF-alpha in the mechanism of action of infliximab has been demonstrated. The aim of our work was first to perform a complete study of TNF variants role in the response to infliximab in Crohn's disease. Secondly, considering the role of ADAM 17 in TNF-alpha shedding, the ADAM 17 locus was also studied. The response to infliximab was evaluated in 222 Caucasian Crohn's disease patients with a luminal (n=160) or fistulizing (n=62) form of the disease. Clinical and biological response evaluation was based on the Crohn's Disease Activity Index score and C-reactive protein level evolutions, respectively. The entire TNF gene was sequenced on the complete cohort. Twelve single nucleotide polymorphisms spanning the ADAM 17 locus were studied and haplotypes rebuilt. A clinical response was observed in 64% of the patients and biological response in 77.1% of patients. No association was found between the TNF gene and the response to infliximab. One haplotype in the ADAM 17 region was associated with a clinical response to infliximab in CD patients (adjusted P=0.045). In conclusion, our results exclude, with a reasonable power, an implication of the TNF gene in the response to infliximab in Crohn's disease, but reveal a potential role of the ADAM 17 gene in this response. [less ▲]

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See detailLymphotoxin alpha gene in Crohn's disease patients: absence of implication in the response to infliximab in a large cohort study
Dideberg, Vinciane ULg; Louis, Edouard ULg; Farnir, Frédéric ULg et al

in Pharmacogenetics and Genomics (2006), 16(5), 369-373

A haplotype in the lymphotoxin alpha (LTA) gene has been associated with a lack of response to infliximab in a small cohort of Crohn's disease (CD) patients. The present study aimed to confirm the ... [more ▼]

A haplotype in the lymphotoxin alpha (LTA) gene has been associated with a lack of response to infliximab in a small cohort of Crohn's disease (CD) patients. The present study aimed to confirm the implication of this haplotype in the response to infliximab in a larger cohort of Caucasian patients. The response to the first infusion with infliximab was evaluated in 214 Caucasian patients with either luminal (n = 150) or fistulising (n = 64) CD. Clinical response was based on the decrease in CID Activity Index (luminal) or on the evolution in the fistula discharge (fistulising). Biological response was assessed in 139 patients who had elevated C-reactive protein (CRP) before treatment and for whom CRP values were also available after treatment. A positive biological response was defined as a decrease in CRP of at least 25%. The patients were genotyped for six polymorphisms in the LTA gene. A positive clinical response was present in 65.4% of the patients and a positive biological response was observed in 80.6% of the patients. No association was found with any of the studied polymorphisms, nor with the previously published LTA haplotype and the response to infliximab. We could not confirm an association between the LTA locus and clinical or biological response to infliximab in a large cohort of CID patients. Pharmacogenetics and Genomics 16:369-373 (c) 2006 Lippincott Williams [less ▲]

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See detailIntegration de la pharmacogenetique dans la pratique medicale
Dideberg, Vinciane ULg; Bours, Vincent ULg

in Revue Médicale de Liège (2005), 60(12), 918-22

Today, the initiation of any medical treatment still raises questions about its efficacy and safety. Indeed, therapeutic responses vary over time and between individuals and are influenced by age, sex ... [more ▼]

Today, the initiation of any medical treatment still raises questions about its efficacy and safety. Indeed, therapeutic responses vary over time and between individuals and are influenced by age, sex, other treatments and the pathology itself. Genetic factors are thought to be responsible for 20 to 95% of these individual variations. Recent advances in biotechnology, molecular genetics and genomics allow a better understanding of drug metabolism and action. Pharmacogenetics, compiling phenotypic and genotypic data, may lead to a more personalized treatment. To allow a better approach of pharmacogenetics and pharmacogenomics, we will define these two terms and describe their actual and future clinical application. [less ▲]

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See detailMajor Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test?
Verloes, Alain ULg; Gillerot, Y.; Van Maldergem, Lionel ULg et al

in European Journal of Human Genetics (2001), 9(1), 1-4

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not ... [more ▼]

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not regulated and can be freely performed by any biomedical lab, making epidemiological data unavailable. By contrast, cytogenetic investigations are limited to a few genetic centres, and accurate statistics can be easily built from their files. During the period 1984-1989, a total of 244 trisomy 21 (1/876 pregnancies) were diagnosed in the Genetic Centres of Liege and Loverval, 42 (17%) of them prenatally. During the period 1993-1998, 294 trisomy 21 (1/704 pregnancies) were observed, 165 (56%) of which prenatally, and more than 90% of affected pregnancies were terminated. Even after correction for late foetal loss of trisomic foetuses, the difference is highly significant, and corresponds to a theoretical shift in the incidence of trisomy 21 at birth from 1/794 to 1/1606. As no remarkable progress occurred in other non-invasive prenatal screening procedures or general health care policies in Belgium, the most reasonable explanation is the use on a large scale of triple test by pregnant women, and the election of termination for most affected pregnancies. [less ▲]

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See detailEpisphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens
Verloes, Alain ULg; JAMAR, Mauricette ULg; Dideberg, Vinciane ULg et al

in Annales de Génétique (2001), 44(2, Apr-Jun), 59-62

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia ... [more ▼]

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern and no quadriradial figures) and borderline to absent hypersensitivity to mitomycin C, making a diagnosis of Fanconi anemia unlikely. The child described here shares similarities with a small number of previous reports. We suggest to refer to this entity as episphalosomic syndrome. Episphalosomic syndrome shows some clinical overlap with Fanconi anemia, but lacks its cytogenetic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity. [less ▲]

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