Papers by Catherine Laprise
European Journal of Human Genetics, Feb 27, 2013
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Clinical & Experimental Allergy, Oct 1, 2019
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The Journal of Allergy and Clinical Immunology, Sep 1, 2016
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The Journal of Allergy and Clinical Immunology, Oct 1, 2016
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Objective: Microdeletions are associated with different forms of epilepsy but show incomplete pen... more Objective: Microdeletions are associated with different forms of epilepsy but show incomplete penetrance, which is not well understood. We aimed to assess whether unmasked variants or double CNVs could explain incomplete penetrance. Methods: We analyzed copy number variants (CNVs) in 603 patients with four different subgroups of epilepsy and 945 controls. CNVs were called from genotypes and validated on whole genome (WGS) or exome sequences (WES). CNV burden difference between patients and controls was obtained by fitting a logistic regression. CNV burden was assessed for small and large (> 1Mb) deletions and duplications and for deletions overlapping different genes set. Results: Large deletions were enriched in genetic generalized epilepsies (GGE) compared to controls. We also found an enrichment of deletions in epilepsy genes and hotspots for GGE. We did not find truncating or functional variants that could have been unmasked by the deletions. We observed a double CNV hit in t...
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Genetic Epidemiology, 2016
The number of genetic factors identified for asthma remains limited. The study of gene-byenvironm... more The number of genetic factors identified for asthma remains limited. The study of gene-byenvironment interactions may facilitate the discovery of new genes. Environmental tobacco smoke (ETS) exposure in utero and/or during infancy is a known risk factor for childhood-onset and lateonset asthma. Our goal was to identify genetic variants interacting with early ETS exposure that influence time-to-asthma onset (TAO). We conducted a large-scale meta-analysis of five genomewide interaction studies (GEWIS) of TAO (totaling 3,643 exposed (ETS) and 5,275 non-exposed (ETS) subjects of European ancestry) using survival analysis methodologies. Since the power of GEWIS depends on the statistical test used according to the underlying genetic model which is unknown, two tests were performed: 1) a joint test of SNP and GxETS interaction effects and 2) a test of GxETS interaction alone. While the joint test identified two asthma regions (9p24 & 17q12q21) interacting with ETS on TAO at P≤10, the inte...
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PLOS ONE, 2020
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Epigenomics, 2021
Aim: To develop a method for estimating cell-specific effects in epigenomic association studies i... more Aim: To develop a method for estimating cell-specific effects in epigenomic association studies in the presence of cell type heterogeneity. Materials & methods: We utilized Monte Carlo Expectation-Maximization algorithm with Metropolis–Hastings sampler to reconstruct the ‘missing’ cell-specific methylations and to estimate their associations with phenotypes free of confounding by cell type proportions. Results: Simulations showed reliable performance of the method under various settings including when the cell type is rare. Application to a real dataset recapitulated the directly measured cell-specific methylation pattern in whole blood. Conclusion: This work provides a framework to identify important cell groups and account for cell type composition useful for studying the role of epigenetic changes in human traits and diseases.
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American Journal of Physical Anthropology, 2020
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American Journal of Physiology-Cell Physiology, 2019
Leigh syndrome French Canadian type (LSFC) is a mitochondrial disease caused by mutations in the ... more Leigh syndrome French Canadian type (LSFC) is a mitochondrial disease caused by mutations in the leucine-rich pentatricopeptide repeat-containing (LRPPRC) gene leading to a reduction of cytochrome- c oxidase (COX) expression reaching 50% in skin fibroblasts. We have shown that under basal conditions, LSFC and control cells display similar ATP levels. We hypothesized that this occurs through upregulation of mechanistic target of rapamycin (mTOR)-mediated metabolic reprogramming. Our results showed that compared with controls, LSFC cells exhibited an upregulation of the mTOR complex 1 (mTORC1)/p70 ribosomal S6 kinase pathway and higher levels of hypoxia-inducible factor 1α (HIF-1α) and its downstream target pyruvate dehydrogenase kinase 1 (PDHK1), a regulator of mitochondrial pyruvate dehydrogenase 1 (PDH1). Consistent with these signaling alterations, LSFC cells displayed a 40–61% increase in [U-13C6]glucose contribution to pyruvate, lactate, and alanine formation, as well as higher ...
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Genes and environment, 2018
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Sleep Medicine, 2019
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Journal of Allergy and Clinical Immunology, 2018
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Allergy, Jan 18, 2018
Allergies originate early in life and food sensitization is often the first manifestation of alle... more Allergies originate early in life and food sensitization is often the first manifestation of allergic disease (1). Breastfeeding has been inconsistently associated with allergic conditions (2). These inconsistencies could reflect differences in human milk composition, which varies across different settings and populations. However, it remains poorly understood which of the bioactive components in human milk contribute to the developmental programming of allergic disease. This article is protected by copyright. All rights reserved.
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The Journal of allergy and clinical immunology, 2017
The atopic march describes the progression from atopic dermatitis during infancy to asthma and al... more The atopic march describes the progression from atopic dermatitis during infancy to asthma and allergic rhinitis in later childhood. In a Canadian birth cohort we investigated whether concomitant allergic sensitization enhances subsequent development of these allergic diseases at age 3 years. Children completed skin prick testing at age 1 year. Children were considered sensitized if they produced a wheal 2 mm or larger than that elicited by the negative control to any of 10 inhalant or food allergens. Children were also assessed for atopic dermatitis by using the diagnostic criteria of the UK Working Party. At age 3 years, children were assessed for asthma, allergic rhinitis, food allergy, and atopic dermatitis. Data from 2311 children were available. Atopic dermatitis without allergic sensitization was not associated with an increased risk of asthma at age 3 years after adjusting for common confounders (relative risk [RR], 0.46; 95% CI, 0.11-1.93). Conversely, atopic dermatitis wit...
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Frontiers in nutrition, 2017
Our gut microbiota provide a number of important functions, one of which is the metabolism of die... more Our gut microbiota provide a number of important functions, one of which is the metabolism of dietary fiber and other macronutrients that are undigested by the host. The main products of this fermentation process are short-chain fatty acids (SCFAs) and other intermediate metabolites including lactate and succinate. Production of these metabolites is dependent on diet and gut microbiota composition. There is increasing evidence for the role of SCFAs in host physiology and metabolic processes as well as chronic inflammatory conditions such as allergic disease and obesity. We aimed to investigate differences in fecal SCFAs and intermediate metabolites in 163 infants at 3-5 months of age according to breastfeeding status. Compared to no exposure to human milk at time of fecal sample collection, exclusive breastfeeding was associated with lower absolute concentrations of total SCFAs, acetate, butyrate, propionate, valerate, isobutyrate, and isovalerate, yet higher concentrations of lacta...
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Clinical and Translational Allergy, 2016
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Translational psychiatry, Jan 10, 2015
Bipolar disorder (BD) is a severe and highly heritable neuropsychiatric disorder with a lifetime ... more Bipolar disorder (BD) is a severe and highly heritable neuropsychiatric disorder with a lifetime prevalence of 1%. Molecular genetic studies have identified the first BD susceptibility genes. However, the disease pathways remain largely unknown. Accumulating evidence suggests that microRNAs, a class of small noncoding RNAs, contribute to basic mechanisms underlying brain development and plasticity, suggesting their possible involvement in the pathogenesis of several psychiatric disorders, including BD. In the present study, gene-based analyses were performed for all known autosomal microRNAs using the largest genome-wide association data set of BD to date (9747 patients and 14 278 controls). Associated and brain-expressed microRNAs were then investigated in target gene and pathway analyses. Functional analyses of miR-499 and miR-708 were performed in rat hippocampal neurons. Ninety-eight of the six hundred nine investigated microRNAs showed nominally significant P-values, suggesting...
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Papers by Catherine Laprise