Search

Your search keyword '"Laprise C"' showing total 291 results
Start Over Author "Laprise C"
291 results on '"Laprise C"'

7. Patterns of allergic sensitization and atopic dermatitis from 1 to 3 years: Effects on allergic diseases

Author

Dharma, C., Lefebvre, D. L., Tran, M. M., Lou, W. Y. W., Subbarao, P., Becker, A. B., Mandhane, P. J., Turvey, S. E., Sears, M. R., Anand, SS, Azad, MB, Befus, AD, Brauer, M, Brook, JR, Chen, E, Cyr, MM, Daley, D, Dell, SD, Denburg, JA, Duan, QL, Eiwegger, T, Grasemann, H, HayGlass, K, Hegele, RG, Holness, DL, Hystad, P, Kobor, M, Kollmann, TR, Kozyrskyj, AL, Laprise, C, Macri, J, Miller, G, Moraes, TJ, Paré, P, Ramsey, C, Ratjen, F, Sandford, A, Scott, JA, Scott, J, Silverman, F, Simons, E, Takaro, T, Tebbutt, SJ, and To, T

Published
2018
Full Text
View/download PDF

10. The Canadian Healthy Infant Longitudinal Development (CHILD) Study: examining developmental origins of allergy and asthma

Author

Subbarao, Padmaja, Anand, Sonia S, Becker, Allan B, Befus, A Dean, Brauer, Michael, Brook, Jeffrey R, Denburg, Judah A, HayGlass, Kent T, Kobor, Michael S, Kollmann, Tobias R, Kozyrskyj, Anita L, Lou, W Y Wendy, Mandhane, Piushkumar J, Miller, Gregory E, Moraes, Theo J, Pare, Peter D, Scott, James A, Takaro, Tim K, Turvey, Stuart E, Duncan, Joanne M, Lefebvre, Diana L, Sears, Malcolm R, OʼByrne, Paul M, Martinez, Fernando D, Raizenne, Mark E, Ratjen, Felix A, Sly, Peter D, von Mutius, Erika, Allen, R, Chen, E, Cyr, M, Daley, D, Dell, S, Elliott, S, Grasemann, H, HayGlass, K, Hegele, R, Holness, DL, Laprise, C, Larché, M, Macri, J, Miller, G, Moqbel, R, Moraes, T, Paré, PD, Ramsey, C, Ratjen, F, Sandford, A, Scott, J, Silverman, F, Takaro, T, Tang, P, Tebbutt, S, To, T, and Turvey, SE

Published
2015
Full Text
View/download PDF

12. Shared DNA methylation signatures in childhood allergy: The MeDALL study

Author

Xu, C., Gruzieva, O., Qi, C., Esplugues, A., Gehring, U., Bergström, A., Mason, D., Chatzi, L., Porta, D., Carlsen, K.C.L., Baïz, N., Madore, A.M., Alenius, H., Rijkom, B. van, Jankipersadsing, S.A., Vlies, P., Kull, I., Hage, M., Bustamante, M, Lertxundi, A., Torrent, M., Santorelli, G., Fantini, M.P., Hovland, V., Pesce, G., Fyhrquist, N., Laatikainen, T., Nawijn, M.C., Li, Y., Wijmenga, C., Netea, M.G., Bousquet, J., Anto, J.M., Laprise, C., Haahtela, T., Annesi-Maesano, I., Carlsen, K.H., Gori, D., Kogevinas, M., Wright, J., Söderhäll, C., Vonk, J.M., Sunyer, J., Melén, E., Koppelman, G.H., Xu, C., Gruzieva, O., Qi, C., Esplugues, A., Gehring, U., Bergström, A., Mason, D., Chatzi, L., Porta, D., Carlsen, K.C.L., Baïz, N., Madore, A.M., Alenius, H., Rijkom, B. van, Jankipersadsing, S.A., Vlies, P., Kull, I., Hage, M., Bustamante, M, Lertxundi, A., Torrent, M., Santorelli, G., Fantini, M.P., Hovland, V., Pesce, G., Fyhrquist, N., Laatikainen, T., Nawijn, M.C., Li, Y., Wijmenga, C., Netea, M.G., Bousquet, J., Anto, J.M., Laprise, C., Haahtela, T., Annesi-Maesano, I., Carlsen, K.H., Gori, D., Kogevinas, M., Wright, J., Söderhäll, C., Vonk, J.M., Sunyer, J., Melén, E., and Koppelman, G.H.

Abstract

Contains fulltext : 232514.pdf (Publisher’s version ) (Open Access), BACKGROUND: Differential DNA methylation associated with allergy might provide novel insights into the shared or unique etiology of asthma, rhinitis, and eczema. OBJECTIVE: We sought to identify DNA methylation profiles associated with childhood allergy. METHODS: Within the European Mechanisms of the Development of Allergy (MeDALL) consortium, we performed an epigenome-wide association study of whole blood DNA methylation by using a cross-sectional design. Allergy was defined as having symptoms from at least 1 allergic disease (asthma, rhinitis, or eczema) and positive serum-specific IgE to common aeroallergens. The discovery study included 219 case patients and 417 controls at age 4 years and 228 case patients and 593 controls at age 8 years from 3 birth cohorts, with replication analyses in 325 case patients and 1111 controls. We performed additional analyses on 21 replicated sites in 785 case patients and 2124 controls by allergic symptoms only from 8 cohorts, 3 of which were not previously included in analyses. RESULTS: We identified 80 differentially methylated CpG sites that showed a 1% to 3% methylation difference in the discovery phase, of which 21 (including 5 novel CpG sites) passed genome-wide significance after meta-analysis. All 21 CpG sites were also significantly differentially methylated with allergic symptoms and shared between asthma, rhinitis, and eczema. The 21 CpG sites mapped to relevant genes, including ACOT7, LMAN3, and CLDN23. All 21 CpG sties were differently methylated in asthma in isolated eosinophils, and 10 were replicated in respiratory epithelium. CONCLUSION: Reduced whole blood DNA methylation at 21 CpG sites was significantly associated with childhood allergy. The findings provide novel insights into the shared molecular mechanisms underlying asthma, rhinitis, and eczema.

Published
2021

14. Phenotype consensus is required to enable large-scale genetic consortium studies of food allergy

Author

Asai, Y, Martino, D, Eiwegger, T, Nadeau, K, Koppelman, GH, Clarke, AE, Lee, Y-A, Chan, ES, Simons, E, Laprise, C, Mazer, B, Marenholz, I, Royce, D, Elliott, SJ, Hampson, C, Gerdts, J, Eslami, A, Soller, L, Hui, J, Azad, M, Sandford, A, Daley, D, Asai, Y, Martino, D, Eiwegger, T, Nadeau, K, Koppelman, GH, Clarke, AE, Lee, Y-A, Chan, ES, Simons, E, Laprise, C, Mazer, B, Marenholz, I, Royce, D, Elliott, SJ, Hampson, C, Gerdts, J, Eslami, A, Soller, L, Hui, J, Azad, M, Sandford, A, and Daley, D

Published
2020

18. Asthma, Gender and the Epigenetic Clock

Author

Daley, D., primary, Vasileva, D., additional, Wan, M., additional, Becker, A.B., additional, Chan, E., additional, Laprise, C., additional, Pare, P.D., additional, Greenwood, C., additional, and Sandford, A., additional

Published
2020
Full Text
View/download PDF

21. Epigenome-wide meta-analysis of DNA methylation and childhood asthma

Author

Reese, S. E. (Sarah E.), Xu, C.-J. (Cheng-Jian), den Dekker, H. T. (Herman T.), Lee, M. K. (Mi Kyeong), Sikdar, S. (Sinjini), Ruiz-Arenas, C. (Carlos), Merid, S. K. (Simon K.), Rezwan, F. I. (Faisal I.), Page, C. M. (Christian M.), Ullemar, V. (Vilhelmina), Melton, P. E. (Phillip E.), Oh, S. S. (Sam S.), Yang, I. V. (Ivana V.), Burrows, K. (Kimberley), Söderhäll, C. (Cilla), Jima, D. D. (Dereje D.), Gao, L. (Lu), Arathimos, R. (Ryan), Küpers, L. K. (Leanne K.), Wielscher, M. (Matthias), Rzehak, P. (Peter), Lahti, J. (Jari), Laprise, C. (Catherine), Madore, A.-M. (Anne-Marie), Ward, J. (James), Bennett, B. D. (Brian D.), Wang, T. (Tianyuan), Bell, D. A. (Douglas A.), T. B. (The BIOS consortium), Vonk, J. M. (Judith M.), Håberg, S. E. (Siri E.), Zhao, S. (Shanshan), Karlsson, R. (Robert), Hollams, E. (Elysia), Hu, D. (Donglei), Richards, A. J. (Adam J.), Bergström, A. (Anna), Sharp, G. C. (Gemma C.), Felix, J. F. (Janine F.), Bustamante, M. (Mariona), Gruzieva, O. (Olena), Maguire, R. L. (Rachel L.), Gilliland, F. (Frank), Baïz, N. (Nour), Nohr, E. A. (Ellen A.), Corpeleijn, E. (Eva), Sebert, S. (Sylvain), Karmaus, W. (Wilfried), Grote, V. (Veit), Kajantie, E. (Eero), Magnus, M. C. (Maria C.), Örtqvist, A. K. (Anne K.), Eng, C. (Celeste), Liu, A. H. (Andrew H.), Kull, I. (Inger), Jaddoe, V. W. (Vincent W.V.), Sunyer, J. (Jordi), Kere, J. (Juha), Hoyo, C. (Cathrine), Annesi-Maesano, I. (Isabella), Arshad, S. H. (Syed Hasan), Koletzko, B. (Berthold), Brunekreef, B. (Bert), Binder, E. B. (Elisabeth B.), Räikkönen, K. (Katri), Reischl, E. (Eva), Holloway, J. W. (John W.), Järvelin, M.-R. (Marjo-Riitta), Snieder, H. (Harold), Kazmi, N. (Nabila), Breton, C. V. (Carrie V.), Murphy, S. K. (Susan K.), Pershagen, G. (Göran), Anto, J. M. (Josep Maria), Relton, C. L. (Caroline L.), Schwartz, D. A. (David A.), Burchard, E. G. (Esteban G.), Huang, R.-C. (Rae-Chi), Nystad, W. (Wenche), Almqvist, C. (Catarina), Henderson, A. J. (A. John), Melén, E. (Erik), Duijts, L. (Liesbeth), Koppelman, G. H. (Gerard H.), and London, S. J. (Stephanie J.)

Subjects
epigenetics, newborn, methylation, asthma, drug development, childhood
Abstract

Background: Epigenetic mechanisms, including methylation, can contribute to childhood asthma. Identifying DNA methylation profiles in asthmatic patients can inform disease pathogenesis. Objective: We sought to identify differential DNA methylation in newborns and children related to childhood asthma. Methods: Within the Pregnancy And Childhood Epigenetics consortium, we performed epigenome-wide meta-analyses of school-age asthma in relation to CpG methylation (Illumina450K) in blood measured either in newborns, in prospective analyses, or cross-sectionally in school-aged children. We also identified differentially methylated regions. Results: In newborns (8 cohorts, 668 cases), 9 CpGs (and 35 regions) were differentially methylated (epigenome-wide significance, false discovery rate < 0.05) in relation to asthma development. In a cross-sectional meta-analysis of asthma and methylation in children (9 cohorts, 631 cases), we identified 179 CpGs (false discovery rate < 0.05) and 36 differentially methylated regions. In replication studies of methylation in other tissues, most of the 179 CpGs discovered in blood replicated, despite smaller sample sizes, in studies of nasal respiratory epithelium or eosinophils. Pathway analyses highlighted enrichment for asthma-relevant immune processes and overlap in pathways enriched both in newborns and children. Gene expression correlated with methylation at most loci. Functional annotation supports a regulatory effect on gene expression at many asthma-associated CpGs. Several implicated genes are targets for approved or experimental drugs, including IL5RA and KCNH2. Conclusion: Novel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age. Cross-sectional associations in children can reflect both risk for and effects of disease. Asthma-related differential methylation in blood in children was substantially replicated in eosinophils and respiratory epithelium.

Published
2019

22. Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Author

Morin, A., Madore, Anne-Marie, Kwan, T., Ban, Maria, Partanen, J., Ronnblom, L., Stunnenberg, Hendrik, Pastinen, T., Laprise, C., Morin, A., Madore, Anne-Marie, Kwan, T., Ban, Maria, Partanen, J., Ronnblom, L., Stunnenberg, Hendrik, Pastinen, T., and Laprise, C.

Abstract

Contains fulltext : 199862.pdf (publisher's version ) (Open Access)

Published
2019

23. Epigenome-wide meta-analysis of DNA methylation and childhood asthma

Author

Reese, S., Xu, C., den Dekker, H., Lee, M., Sikdar, S., Ruiz-Arenas, C., Merid, S., Rezwan, F., Page, C., Ullemar, V., Melton, Phillip, Oh, S., Yang, I., Burrows, K., Söderhäll, C., Jima, D., Gao, L., Arathimos, R., Küpers, L., Wielscher, M., Rzehak, P., Lahti, J., Laprise, C., Madore, A., Ward, J., Bennett, B., Wang, T., Bell, D., Vonk, J., Håberg, S., Zhao, S., Karlsson, R., Hollams, E., Hu, D., Richards, A., Bergström, A., Sharp, G., Felix, J., Bustamante, M., Gruzieva, O., Maguire, R., Gilliland, F., Baïz, N., Nohr, E., Corpeleijn, E., Sebert, S., Karmaus, W., Grote, V., Kajantie, E., Magnus, M., Örtqvist, A., Eng, C., Liu, A., Kull, I., Jaddoe, V., Sunyer, J., Kere, J., Hoyo, C., Annesi-Maesano, I., Reese, S., Xu, C., den Dekker, H., Lee, M., Sikdar, S., Ruiz-Arenas, C., Merid, S., Rezwan, F., Page, C., Ullemar, V., Melton, Phillip, Oh, S., Yang, I., Burrows, K., Söderhäll, C., Jima, D., Gao, L., Arathimos, R., Küpers, L., Wielscher, M., Rzehak, P., Lahti, J., Laprise, C., Madore, A., Ward, J., Bennett, B., Wang, T., Bell, D., Vonk, J., Håberg, S., Zhao, S., Karlsson, R., Hollams, E., Hu, D., Richards, A., Bergström, A., Sharp, G., Felix, J., Bustamante, M., Gruzieva, O., Maguire, R., Gilliland, F., Baïz, N., Nohr, E., Corpeleijn, E., Sebert, S., Karmaus, W., Grote, V., Kajantie, E., Magnus, M., Örtqvist, A., Eng, C., Liu, A., Kull, I., Jaddoe, V., Sunyer, J., Kere, J., Hoyo, C., and Annesi-Maesano, I.

Abstract

Background: Epigenetic mechanisms, including methylation, can contribute to childhood asthma. Identifying DNA methylation profiles in asthmatic patients can inform disease pathogenesis. Objective: We sought to identify differential DNA methylation in newborns and children related to childhood asthma. Methods: Within the Pregnancy And Childhood Epigenetics consortium, we performed epigenome-wide meta-analyses of school-age asthma in relation to CpG methylation (Illumina450K) in blood measured either in newborns, in prospective analyses, or cross-sectionally in school-aged children. We also identified differentially methylated regions. Results: In newborns (8 cohorts, 668 cases), 9 CpGs (and 35 regions) were differentially methylated (epigenome-wide significance, false discovery rate < 0.05) in relation to asthma development. In a cross-sectional meta-analysis of asthma and methylation in children (9 cohorts, 631 cases), we identified 179 CpGs (false discovery rate < 0.05) and 36 differentially methylated regions. In replication studies of methylation in other tissues, most of the 179 CpGs discovered in blood replicated, despite smaller sample sizes, in studies of nasal respiratory epithelium or eosinophils. Pathway analyses highlighted enrichment for asthma-relevant immune processes and overlap in pathways enriched both in newborns and children. Gene expression correlated with methylation at most loci. Functional annotation supports a regulatory effect on gene expression at many asthma-associated CpGs. Several implicated genes are targets for approved or experimental drugs, including IL5RA and KCNH2. Conclusion: Novel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age. Cross-sectional associations in children can reflect both risk for and effects of disease. Asthma-related differential methylation in blood in children was substantially replicated in eosinophils and respiratory epithelium.

Published
2019

26. DNA methylation in childhood asthma: an epigenome-wide meta-analysis

Author

Xu, C.J., Soderhall, C., Bustamante, M., Baiz, N., Gruzieva, O., Gehring, U., Mason, D., Chatzi, L., Basterrechea, M., Llop, S., Torrent, M., Forastiere, F., Fantini, M.P., Carlsen, K.C.L., Haahtela, T., Morin, A., Kerkhof, M. van de, Merid, S.K., Rijkom, B. van, Jankipersadsing, S.A., Bonder, M.J., Ballereau, S., Vermeulen, C.J., Aguirre-Gamboa, R., Jongste, J.C. de, Smit, H.A., Kumar, A., Pershagen, G., Guerra, S., Garcia-Aymerich, J., Greco, D., Reinius, L., McEachan, R.R.C., Azad, R., Hovland, V., Mowinckel, P., Alenius, H., Fyhrquist, N., Lemonnier, N., Pellet, J., Auffray, C., Vlies, P., Diemen, C.C. van, Li, Y., Wijmenga, C., Netea, M.G., Moffatt, M.F., Cookson, W., Anto, J.M., Bousquet, J., Laatikainen, T., Laprise, C., Carlsen, K.H., Gori, D., Porta, D., Iniguez, C., Bilbao, J.R., Kogevinas, M., Wright, J., Brunekreef, B., Kere, J., Nawijn, M.C., Annesi-Maesano, I., Sunyer, J., Melen, E., Koppelman, G.H., Xu, C.J., Soderhall, C., Bustamante, M., Baiz, N., Gruzieva, O., Gehring, U., Mason, D., Chatzi, L., Basterrechea, M., Llop, S., Torrent, M., Forastiere, F., Fantini, M.P., Carlsen, K.C.L., Haahtela, T., Morin, A., Kerkhof, M. van de, Merid, S.K., Rijkom, B. van, Jankipersadsing, S.A., Bonder, M.J., Ballereau, S., Vermeulen, C.J., Aguirre-Gamboa, R., Jongste, J.C. de, Smit, H.A., Kumar, A., Pershagen, G., Guerra, S., Garcia-Aymerich, J., Greco, D., Reinius, L., McEachan, R.R.C., Azad, R., Hovland, V., Mowinckel, P., Alenius, H., Fyhrquist, N., Lemonnier, N., Pellet, J., Auffray, C., Vlies, P., Diemen, C.C. van, Li, Y., Wijmenga, C., Netea, M.G., Moffatt, M.F., Cookson, W., Anto, J.M., Bousquet, J., Laatikainen, T., Laprise, C., Carlsen, K.H., Gori, D., Porta, D., Iniguez, C., Bilbao, J.R., Kogevinas, M., Wright, J., Brunekreef, B., Kere, J., Nawijn, M.C., Annesi-Maesano, I., Sunyer, J., Melen, E., and Koppelman, G.H.

Abstract

Contains fulltext : 193339.pdf (publisher's version ) (Closed access), BACKGROUND: DNA methylation profiles associated with childhood asthma might provide novel insights into disease pathogenesis. We did an epigenome-wide association study to assess methylation profiles associated with childhood asthma. METHODS: We did a large-scale epigenome-wide association study (EWAS) within the Mechanisms of the Development of ALLergy (MeDALL) project. We examined epigenome-wide methylation using Illumina Infinium Human Methylation450 BeadChips (450K) in whole blood in 207 children with asthma and 610 controls at age 4-5 years, and 185 children with asthma and 546 controls at age 8 years using a cross-sectional case-control design. After identification of differentially methylated CpG sites in the discovery analysis, we did a validation study in children (4-16 years; 247 cases and 2949 controls) from six additional European cohorts and meta-analysed the results. We next investigated whether replicated CpG sites in cord blood predict later asthma in 1316 children. We subsequently investigated cell-type-specific methylation of the identified CpG sites in eosinophils and respiratory epithelial cells and their related gene-expression signatures. We studied cell-type specificity of the asthma association of the replicated CpG sites in 455 respiratory epithelial cell samples, collected by nasal brushing of 16-year-old children as well as in DNA isolated from blood eosinophils (16 with asthma, eight controls [age 2-56 years]) and compared this with whole-blood DNA samples of 74 individuals with asthma and 93 controls (age 1-79 years). Whole-blood transcriptional profiles associated with replicated CpG sites were annotated using RNA-seq data of subsets of peripheral blood mononuclear cells sorted by fluorescence-activated cell sorting. FINDINGS: 27 methylated CpG sites were identified in the discovery analysis. 14 of these CpG sites were replicated and passed genome-wide significance (p<1.14 x 10(-7)) after meta-analysis. Consistently lower methylation le

Published
2018

27. Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder

Author

Mühleisen, TW, Reinbold, CS, Forstner, AJ, Abramova, LI, Alda, M, Babadjanova, G, Bauer, M, Brennan, P, Chuchalin, A, Cruceanu, C, Czerski, PM, Degenhardt, F, Fischer, SB, Fullerton, JM, Gordon, SD, Grigoroiu-Serbanescu, M, Grof, P, Hauser, J, Hautzinger, M, Herms, S, Hoffmann, P, Kammerer-Ciernioch, J, Khusnutdinova, E, Kogevinas, M, Krasnov, V, Lacour, A, Laprise, C, Leber, M, Lissowska, J, Lucae, S, Maaser, A, Maier, W, Martin, NG, Mattheisen, M, Mayoral, F, McKay, JD, Medland, SE, Mitchell, PB, Moebus, S, Montgomery, GW, Müller-Myhsok, B, Oruc, L, Pantelejeva, G, Pfennig, A, Pojskic, L, Polonikov, A, Reif, A, Rivas, F, Rouleau, GA, Schenk, LM, Schofield, PR, Schwarz, M, Streit, F, Strohmaier, J, Szeszenia-Dabrowska, N, Tiganov, AS, Treutlein, J, Turecki, G, Vedder, H, Witt, SH, Schulze, TG, Rietschel, M, Nöthen, MM, Cichon, S, Mühleisen, TW, Reinbold, CS, Forstner, AJ, Abramova, LI, Alda, M, Babadjanova, G, Bauer, M, Brennan, P, Chuchalin, A, Cruceanu, C, Czerski, PM, Degenhardt, F, Fischer, SB, Fullerton, JM, Gordon, SD, Grigoroiu-Serbanescu, M, Grof, P, Hauser, J, Hautzinger, M, Herms, S, Hoffmann, P, Kammerer-Ciernioch, J, Khusnutdinova, E, Kogevinas, M, Krasnov, V, Lacour, A, Laprise, C, Leber, M, Lissowska, J, Lucae, S, Maaser, A, Maier, W, Martin, NG, Mattheisen, M, Mayoral, F, McKay, JD, Medland, SE, Mitchell, PB, Moebus, S, Montgomery, GW, Müller-Myhsok, B, Oruc, L, Pantelejeva, G, Pfennig, A, Pojskic, L, Polonikov, A, Reif, A, Rivas, F, Rouleau, GA, Schenk, LM, Schofield, PR, Schwarz, M, Streit, F, Strohmaier, J, Szeszenia-Dabrowska, N, Tiganov, AS, Treutlein, J, Turecki, G, Vedder, H, Witt, SH, Schulze, TG, Rietschel, M, Nöthen, MM, and Cichon, S

Abstract

Background Bipolar disorder (BD) is a common and highly heritable disorder of mood. Genome-wide association studies (GWAS) have identified several independent susceptibility loci. In order to extract more biological information from GWAS data, multi-locus approaches represent powerful tools since they utilize knowledge about biological processes to integrate functional sets of genes at strongly to moderately associated loci. Methods We conducted gene set enrichment analyses (GSEA) using 2.3 million single-nucleotide polymorphisms, 397 Reactome pathways and 24,025 patients with BD and controls. RNA expression of implicated individual genes and gene sets were examined in post-mortem brains across lifespan. Results Two pathways showed a significant enrichment after correction for multiple comparisons in the GSEA: GRB2 events in ERBB2 signaling, for which 6 of 21 genes were BD associated (PFDR = 0.0377), and NCAM signaling for neurite out-growth, for which 11 out of 62 genes were BD associated (PFDR = 0.0451). Most pathway genes showed peaks of RNA co-expression during fetal development and infancy and mapped to neocortical areas and parts of the limbic system. Limitations Pathway associations were technically reproduced by two methods, although they were not formally replicated in independent samples. Gene expression was explored in controls but not in patients. Conclusions Pathway analysis in large GWAS data of BD and follow-up of gene expression patterns in healthy brains provide support for an involvement of neurodevelopmental processes in the etiology of this neuropsychiatric disease. Future studies are required to further evaluate the relevance of the implicated genes on pathway functioning and clinical aspects of BD.

Published
2018

28. Predicting the atopic march: Results from the Canadian Healthy Infant Longitudinal Development Study

Author

Tran, Maxwell M., primary, Lefebvre, Diana L., additional, Dharma, Christoffer, additional, Dai, David, additional, Lou, Wendy Y.W., additional, Subbarao, Padmaja, additional, Becker, Allan B., additional, Mandhane, Piush J., additional, Turvey, Stuart E., additional, Sears, Malcolm R., additional, Subbarao, P., additional, Turvey, S.E., additional, Anand, S.S., additional, Azad, M., additional, Becker, A.B., additional, Befus, A.D., additional, Brauer, M., additional, Brook, J.R., additional, Chen, E., additional, Cyr, M., additional, Daley, D., additional, Dell, S.D., additional, Denburg, J.A., additional, Duan, Q., additional, Eiwegger, T., additional, Grasemann, H., additional, HayGlass, K., additional, Hegele, R.G., additional, Holness, D.L., additional, Hystad, P., additional, Kobor, M., additional, Kollmann, T.R., additional, Kozyrskyj, A.L., additional, Laprise, C., additional, Lou, W.Y.W., additional, Macri, J., additional, Mandhane, P.J., additional, Miller, G., additional, Moraes, T.J., additional, Paré, P., additional, Ramsey, C., additional, Ratjen, F., additional, Sandford, A., additional, Scott, J.A., additional, Scott, J., additional, Sears, M.R., additional, Silverman, F., additional, Simons, E., additional, Takaro, T., additional, Tebbutt, S., additional, and To, T., additional

Published
2018
Full Text
View/download PDF

30. TheCOL5A3andMMP9genes interact in eczema susceptibility

Author

Margaritte-Jeannin, P., primary, Babron, M.-C., additional, Laprise, C., additional, Lavielle, N., additional, Sarnowski, C., additional, Brossard, M., additional, Moffatt, M., additional, Gagné-Ouellet, V., additional, Etcheto, A., additional, Lathrop, M., additional, Just, J., additional, Cookson, W. O., additional, Bouzigon, E., additional, Demenais, F., additional, and Dizier, M.-H., additional

Published
2017
Full Text
View/download PDF

31. Identification of shared risk loci and pathways for bipolar disorder and schizophrenia

Author

Forstner, AJ, Hecker, J, Hofmann, A, Maaser, A, Reinbold, CS, Mühleisen, TW, Leber, M, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Schumacher, J, Streit, F, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Schenk, LM, Fischer, SB, Sivalingam, S, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnov, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Cruceanu, C, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Becker, T, Schulze, TG, Rietschel, M, Cichon, S, Fier, H, Nöthen, MM, Forstner, AJ, Hecker, J, Hofmann, A, Maaser, A, Reinbold, CS, Mühleisen, TW, Leber, M, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Schumacher, J, Streit, F, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Schenk, LM, Fischer, SB, Sivalingam, S, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnov, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Cruceanu, C, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Becker, T, Schulze, TG, Rietschel, M, Cichon, S, Fier, H, and Nöthen, MM

Abstract

Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls). After re-imputation and correction for sample overlap, 22 of 107 investigated SCZ SNPs showed nominal association with BD. The number of shared SCZ-BD SNPs was significantly higher than expected (p = 1.46x10-8 ). This provides further evidence that SCZassociated loci contribute to the development of BD. Two SNPs remained significant after Bonferroni correction. The most strongly associated SNP was located near TRANK1, which is a reported genome-wide significant risk gene for BD. Pathway analyses for all shared SCZ-BD SNPs revealed 25 nominally enriched gene-sets, which showed partial overlap in terms of the underlying genes. The enriched gene-sets included calcium- and glutamate signaling, neuropathic pain signaling in dorsal horn neurons, and calmodulin binding. The present data provide further insights into shared risk loci and disease-associated pathways for BD and SCZ. This may suggest new research directions for the treatment and prevention of these two major psychiatric disorders.

Published
2017

32. Genome-wide association study unravels genetic determinants of the atopic march

Author

Marenholz, Ingo, Esparza-Gordillo, J., Rueschendorf, F., Strachan, D. P., Spycher, B. D., Baurecht, H., Margaritte-Jeannin, P., Saeaef, A., Kerkhof, M., Ege, M., Baltic, S., Matheson, M. C., Li, J., Ang, W. Q., McArdle, W., Homuth, G., Bouzigon, E., Pershagen, G., Postma, D. S., Braun-Fahrlaender, C., Duffy, D. L., Marks, G. B., Robertson, C. F., Martin, N. G., James, A., Sleiman, P., Foelster-Holst, R., Lieb, W., Gieger, C., Rietschel, E., Keil, T., Noethen, M. M., Sly, P. D., Schmidt, C. O., Matanovic, A., Holt, Pg P. G., Lau, S., Kabesch, M., Weidinger, S., Hakonarson, H., Ferreira, M. A. R., Laprise, C., Freidin, M. B., Genuneit, J., Koppelman, G. H., Melen, E., Dizier, M-H, Henderson, A. J., Lee, Y-A, and Groningen Research Institute for Asthma and COPD (GRIAC)

Published
2016

33. Genome-wide association study unravels genetic determinants of the atopic march

Author

Marenholz, I, Esparza-Gordillo, J., Rueschendorf, F., Strachan, D. P., Spycher, B. D., Baurecht, H., Margaritte-Jeannin, P., Saeaef, A., Kerkhof, M., Ege, M., Baltic, S., Matheson, M. C., Li, J., Michel, S., Ang, W. Q., McArdle, W., Homuth, G., Bouzigon, E., Pershagen, G., Postma, D. S., Braun-Fahrlaender, C., Duffy, D. L., Marks, G. B., Robertson, C. F., Martin, N. G., James, A., Sleiman, P., Foelster-Holst, R., Lieb, W., Gieger, C., Rietschel, E., Keil, T., Noethen, M. M., Sly, P. D., Schmidt, C. O., Matanovic, A., Holt, Pg P. G., Lau, S., Kabesch, M., Weidinger, S., Hakonarson, H., Ferreira, M. A. R., Laprise, C., Freidin, M. B., Genuneit, J., Koppelman, G. H., Melen, E., Dizier, M-H, Henderson, A. J., Lee, Y-A, Marenholz, I, Esparza-Gordillo, J., Rueschendorf, F., Strachan, D. P., Spycher, B. D., Baurecht, H., Margaritte-Jeannin, P., Saeaef, A., Kerkhof, M., Ege, M., Baltic, S., Matheson, M. C., Li, J., Michel, S., Ang, W. Q., McArdle, W., Homuth, G., Bouzigon, E., Pershagen, G., Postma, D. S., Braun-Fahrlaender, C., Duffy, D. L., Marks, G. B., Robertson, C. F., Martin, N. G., James, A., Sleiman, P., Foelster-Holst, R., Lieb, W., Gieger, C., Rietschel, E., Keil, T., Noethen, M. M., Sly, P. D., Schmidt, C. O., Matanovic, A., Holt, Pg P. G., Lau, S., Kabesch, M., Weidinger, S., Hakonarson, H., Ferreira, M. A. R., Laprise, C., Freidin, M. B., Genuneit, J., Koppelman, G. H., Melen, E., Dizier, M-H, Henderson, A. J., and Lee, Y-A

Published
2016

34. Meta-analysis identifies seven susceptibility loci involved in the atopic March

Author

Marenholz, I, Esparza-Gordillo, J, Rüschendorf, F, Bauerfeind, A, Strachan, DP, Spycher, BD, Baurecht, H, Margaritte-Jeannin, P, Sääf, A, Kerkhof, M, Ege, M, Baltic, S, Matheson, MC, Li, J, Michel, S, Ang, WQ, McArdle, W, Arnold, A, Homuth, G, Demenais, F, Bouzigon, E, Söderhäll, C, Pershagen, G, De Jongste, JC, Postma, DS, Braun-Fahrländer, C, Horak, E, Ogorodova, LM, Puzyrev, VP, Bragina, EY, Hudson, TJ, Morin, C, Duffy, DL, Marks, GB, Robertson, CF, Montgomery, GW, Musk, B, Thompson, PJ, Martin, NG, James, A, Sleiman, P, Toskala, E, Rodriguez, E, Fölster-Holst, R, Franke, A, Lieb, W, Gieger, C, Heinzmann, A, Rietschel, E, Keil, T, Cichon, S, Nöthen, MM, Pennell, CE, Sly, PD, Schmidt, CO, Matanovic, A, Schneider, V, Heinig, M, Hübner, N, Holt, PG, Lau, S, Kabesch, M, Weidinger, S, Hakonarson, H, Ferreira, MAR, Laprise, C, Freidin, MB, Genuneit, J, Koppelman, GH, Melén, E, Dizier, MH, Henderson, AJ, Lee, YA, Marenholz, I, Esparza-Gordillo, J, Rüschendorf, F, Bauerfeind, A, Strachan, DP, Spycher, BD, Baurecht, H, Margaritte-Jeannin, P, Sääf, A, Kerkhof, M, Ege, M, Baltic, S, Matheson, MC, Li, J, Michel, S, Ang, WQ, McArdle, W, Arnold, A, Homuth, G, Demenais, F, Bouzigon, E, Söderhäll, C, Pershagen, G, De Jongste, JC, Postma, DS, Braun-Fahrländer, C, Horak, E, Ogorodova, LM, Puzyrev, VP, Bragina, EY, Hudson, TJ, Morin, C, Duffy, DL, Marks, GB, Robertson, CF, Montgomery, GW, Musk, B, Thompson, PJ, Martin, NG, James, A, Sleiman, P, Toskala, E, Rodriguez, E, Fölster-Holst, R, Franke, A, Lieb, W, Gieger, C, Heinzmann, A, Rietschel, E, Keil, T, Cichon, S, Nöthen, MM, Pennell, CE, Sly, PD, Schmidt, CO, Matanovic, A, Schneider, V, Heinig, M, Hübner, N, Holt, PG, Lau, S, Kabesch, M, Weidinger, S, Hakonarson, H, Ferreira, MAR, Laprise, C, Freidin, MB, Genuneit, J, Koppelman, GH, Melén, E, Dizier, MH, Henderson, AJ, and Lee, YA

Abstract

Eczema often precedes the development of asthma in a disease course called the a € atopic marcha €. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10 a'8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10 a'9). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema.

Published
2015

35. Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder

Author

Forstner, AJ, Hofmann, A, Maaser, A, Sumer, S, Khudayberdiev, S, Mühleisen, TW, Leber, M, Schulze, TG, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Schumacher, J, Breuer, R, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Priebe, L, Sivalingam, S, Verhaert, A, Schulz, H, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnov, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Cruceanu, C, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Propping, P, Becker, T, Rietsche, M, Cichon, S, Schratt, G, Nöthen, MM, Forstner, AJ, Hofmann, A, Maaser, A, Sumer, S, Khudayberdiev, S, Mühleisen, TW, Leber, M, Schulze, TG, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Schumacher, J, Breuer, R, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Priebe, L, Sivalingam, S, Verhaert, A, Schulz, H, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnov, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Cruceanu, C, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Propping, P, Becker, T, Rietsche, M, Cichon, S, Schratt, G, and Nöthen, MM

Abstract

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 that BDassociated microRNAs might be enriched within known microRNA loci. After correction for multiple testing, nine microRNAs showed a significant association with BD. The most promising were miR-499, miR-708 and miR-1908. Target gene and pathway analyses revealed 18 significant canonical pathways, including brain development and neuron projection. For miR-499, four Bonferroni-corrected significant target genes were identified, including the genome-wide risk gene for psychiatric disorder CACNB2. First results of functional analyses in rat hippocampal neurons neither revealed nor excluded a major contribution of miR-499 or miR-708 to dendritic spine morphogenesis. The present results suggest that research is warranted to elucidate the precise involvement of microRNAs and their downstream pathways in BD.

Published
2015

36. Meta-analysis identifies seven susceptibility loci involved in the atopic March

Author

Marenholz, I. (Ingo), Esparza-Gordillo, J. (Jorge), Rüschendorf, F. (Franz), Bauerfeind, A. (Anja), Strachan, D.P. (David P.), Spycher, B.D. (Ben D.), Baurecht, H. (Hansjörg), Margaritte-Jeannin, P. (Patricia), Sääf, A. (Annika), Kerkhof, M. (Marjan), Ege, M. (Markus), Baltic, S. (Svetlana), Matheson, J., Li, J. (Jin), Michel, S. (Sven), Ang, W.Q. (Wei Q.), McArdle, W.L. (Wendy), Homuth, G. (Georg), Demenais, F. (Florence), Bouzigon, E. (Emmanuelle), Söderhäll, C. (Cilla), Pershagen, G. (Göran), Jongste, J.C. (Johan) de, Postma, D.S. (Dirkje), Braun-Fahrländer, C. (Charlotte), Horak, E. (Elisabeth), Ogorodova, L.M. (Ludmila M.), Puzyrev, V.P. (Valery P.), Bragina, E.Y. (Elena Yu), Hudson, T.J. (Thomas), Morin, C. (Charles), Duffy, D.L. (David), Marks, G.B. (Guy B.), Robertson, C., Montgomery, G.W. (Grant), Musk, A.W. (Arthur), Thompson, P.J. (Philip), Martin, N.G. (Nicholas), James, A.L. (Alan), Sleiman, P.M.A. (Patrick), Toskala, E. (Elina), Rodríguez, P.M., Fölster-Holst, R. (R.), Franke, A. (Andre), Lieb, W. (Wolfgang), Gieger, C. (Christian), Heinzmann, A. (Andrea), Rietschel, E. (Ernst), Keil, M. (Mark), Cichon, S. (Sven), Nöthen, M.M. (Markus M.), Pennell, C.E. (Craig), Sly, P.D., Schmidt, C.O. (Carsten Oliver), Matanovic, A. (Anja), Schneider, V. (Valentin), Heinig, M. (Matthias), Hübner, N. (Norbert), Holt, P.G. (Patrick), Lau, S. (Susanne), Kabesch, M. (Michael), Weidinger, S. (Stefan), Hakonarson, H. (Hakon), Ferreira, M.A. (Manuel), Laprise, C. (Catherine), Freidin, M.B. (M.), Genuneit, J. (Jon), Koppelman, G.H. (Gerard), Melén, E. (Erik), Dizier, M.-H., Arnold, A.M. (Alice), Henderson, A.J. (A. John), Lee, Y.-A. (Young-Ae), Marenholz, I. (Ingo), Esparza-Gordillo, J. (Jorge), Rüschendorf, F. (Franz), Bauerfeind, A. (Anja), Strachan, D.P. (David P.), Spycher, B.D. (Ben D.), Baurecht, H. (Hansjörg), Margaritte-Jeannin, P. (Patricia), Sääf, A. (Annika), Kerkhof, M. (Marjan), Ege, M. (Markus), Baltic, S. (Svetlana), Matheson, J., Li, J. (Jin), Michel, S. (Sven), Ang, W.Q. (Wei Q.), McArdle, W.L. (Wendy), Homuth, G. (Georg), Demenais, F. (Florence), Bouzigon, E. (Emmanuelle), Söderhäll, C. (Cilla), Pershagen, G. (Göran), Jongste, J.C. (Johan) de, Postma, D.S. (Dirkje), Braun-Fahrländer, C. (Charlotte), Horak, E. (Elisabeth), Ogorodova, L.M. (Ludmila M.), Puzyrev, V.P. (Valery P.), Bragina, E.Y. (Elena Yu), Hudson, T.J. (Thomas), Morin, C. (Charles), Duffy, D.L. (David), Marks, G.B. (Guy B.), Robertson, C., Montgomery, G.W. (Grant), Musk, A.W. (Arthur), Thompson, P.J. (Philip), Martin, N.G. (Nicholas), James, A.L. (Alan), Sleiman, P.M.A. (Patrick), Toskala, E. (Elina), Rodríguez, P.M., Fölster-Holst, R. (R.), Franke, A. (Andre), Lieb, W. (Wolfgang), Gieger, C. (Christian), Heinzmann, A. (Andrea), Rietschel, E. (Ernst), Keil, M. (Mark), Cichon, S. (Sven), Nöthen, M.M. (Markus M.), Pennell, C.E. (Craig), Sly, P.D., Schmidt, C.O. (Carsten Oliver), Matanovic, A. (Anja), Schneider, V. (Valentin), Heinig, M. (Matthias), Hübner, N. (Norbert), Holt, P.G. (Patrick), Lau, S. (Susanne), Kabesch, M. (Michael), Weidinger, S. (Stefan), Hakonarson, H. (Hakon), Ferreira, M.A. (Manuel), Laprise, C. (Catherine), Freidin, M.B. (M.), Genuneit, J. (Jon), Koppelman, G.H. (Gerard), Melén, E. (Erik), Dizier, M.-H., Arnold, A.M. (Alice), Henderson, A.J. (A. John), and Lee, Y.-A. (Young-Ae)

Abstract

Eczema often precedes the development of asthma in a disease course called the a 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10 a'8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10 a'9). Additional susceptibility loci identified a

Published
2015
Full Text
View/download PDF

37. Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder

Author

Forstner, A. J., Hofmann, A., Maaser, A., Sumer, S., Khudayberdiev, S., Muehleisen, T. W., Leber, M., Schulze, T. G., Strohmaier, J., Degenhardt, F., Treutlein, J., Mattheisen, M., Schumacher, J., Breuer, R., Meier, S., Herms, S., Hoffmann, P., Lacour, A., Witt, S. H., Reif, A., Mueller-Myhsok, B., Lucae, S., Maier, W., Schwarz, M., Vedder, H., Kammerer-Ciernioch, J., Pfennig, A., Bauer, M., Hautzinger, M., Moebus, S., Priebe, L., Sivalingam, S., Verhaert, A., Schulz, H., Czerski, P. M., Hauser, J., Lissowska, J., Szeszenia-Dabrowska, N., Brennan, P., McKay, J. D., Wright, A., Mitchell, P. B., Fullerton, J. M., Schofield, P. R., Montgomery, G. W., Medland, S. E., Gordon, S. D., Martin, N. G., Krasnov, V., Chuchalin, A., Babadjanova, G., Pantelejeva, G., Abramova, L. I., Tiganov, A. S., Polonikov, A., Khusnutdinova, E., Alda, M., Cruceanu, C., Rouleau, G. A., Turecki, G., Laprise, C., Rivas, F., Mayoral, F., Kogevinas, M., Grigoroiu-Serbanescu, M., Propping, P., Becker, T., Rietschel, M., Cichon, S., Schratt, G., Noethen, M. M., Forstner, A. J., Hofmann, A., Maaser, A., Sumer, S., Khudayberdiev, S., Muehleisen, T. W., Leber, M., Schulze, T. G., Strohmaier, J., Degenhardt, F., Treutlein, J., Mattheisen, M., Schumacher, J., Breuer, R., Meier, S., Herms, S., Hoffmann, P., Lacour, A., Witt, S. H., Reif, A., Mueller-Myhsok, B., Lucae, S., Maier, W., Schwarz, M., Vedder, H., Kammerer-Ciernioch, J., Pfennig, A., Bauer, M., Hautzinger, M., Moebus, S., Priebe, L., Sivalingam, S., Verhaert, A., Schulz, H., Czerski, P. M., Hauser, J., Lissowska, J., Szeszenia-Dabrowska, N., Brennan, P., McKay, J. D., Wright, A., Mitchell, P. B., Fullerton, J. M., Schofield, P. R., Montgomery, G. W., Medland, S. E., Gordon, S. D., Martin, N. G., Krasnov, V., Chuchalin, A., Babadjanova, G., Pantelejeva, G., Abramova, L. I., Tiganov, A. S., Polonikov, A., Khusnutdinova, E., Alda, M., Cruceanu, C., Rouleau, G. A., Turecki, G., Laprise, C., Rivas, F., Mayoral, F., Kogevinas, M., Grigoroiu-Serbanescu, M., Propping, P., Becker, T., Rietschel, M., Cichon, S., Schratt, G., and Noethen, M. M.

Abstract

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 that BD-associated microRNAs might be enriched within known microRNA loci. After correction for multiple testing, nine microRNAs showed a significant association with BD. The most promising were miR-499, miR-708 and miR-1908. Target gene and pathway analyses revealed 18 significant canonical pathways, including brain development and neuron projection. For miR-499, four Bonferroni-corrected significant target genes were identified, including the genome-wide risk gene for psychiatric disorder CACNB2. First results of functional analyses in rat hippocampal neurons neither revealed nor excluded a major contribution of miR-499 or miR-708 to dendritic spine morphogenesis. The present results suggest that research is warranted to elucidate the precise involvement of microRNAs and their downstream pathways in BD.

Published
2015

38. The <italic>COL5A3</italic> and <italic>MMP9</italic> genes interact in eczema susceptibility.

Author

Margaritte‐Jeannin, P., Babron, M.‐C., Laprise, C., Lavielle, N., Sarnowski, C., Brossard, M., Moffatt, M., Gagné‐Ouellet, V., Etcheto, A., Lathrop, M., Just, J., Cookson, W. O., Bouzigon, E., Demenais, F., and Dizier, M.‐H.

Subjects
ASTHMA, ECZEMA, ALLERGIES, LOGISTIC regression analysis, META-analysis, GENETICS
Abstract

Summary: Background: Genetic studies of eczema have identified many genes, which explain only 14% of the heritability. Missing heritability may be partly due to ignored gene–gene (G‐G) interactions. Objective: Our aim was to detect new interacting genes involved in eczema. Methods: The search for G‐G interaction in eczema was conducted using a two‐step approach, which included as a first step, a biological selection of genes, which are involved either in the skin or epidermis development or in the collagen metabolism, and as a second step, an interaction analysis of the selected genes. Analyses were carried out at both SNP and gene levels in three asthma‐ascertained family samples: the discovery dataset of 388 EGEA (Epidemiological study on the Genetics and Environment of Asthma) families and the two replication datasets of 253 SLSJ (Saguenay–Lac‐Saint‐Jean) families and 207 MRCA (Medical Research Council) families. Results: One pair of SNPs, rs2287807 in COL5A3 and rs17576 in MMP9, that were detected in EGEA at P ≤ 10−5 showed significant interaction by meta‐analysis of EGEA, SLSJ and MRCA samples (P = 1.1 × 10−8 under the significant threshold of 10−7). Gene‐based analysis confirmed strong interaction between COL5A3 and MMP9 (P = 4 × 10−8 under the significant threshold of 4 × 10−6) by meta‐analysis of the three datasets. When stratifying the data on asthma, this interaction remained in both groups of asthmatic and non‐asthmatic subjects. Conclusion: This study identified significant interaction between two new genes, COL5A3 and MMP9, which may be accounted for by a degradation of COL5A3 by MMP9 influencing eczema susceptibility. Further confirmation of this interaction as well as functional studies is needed to better understand the role of these genes in eczema. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

39. Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder

Author

Forstner, A J, primary, Hofmann, A, additional, Maaser, A, additional, Sumer, S, additional, Khudayberdiev, S, additional, Mühleisen, T W, additional, Leber, M, additional, Schulze, T G, additional, Strohmaier, J, additional, Degenhardt, F, additional, Treutlein, J, additional, Mattheisen, M, additional, Schumacher, J, additional, Breuer, R, additional, Meier, S, additional, Herms, S, additional, Hoffmann, P, additional, Lacour, A, additional, Witt, S H, additional, Reif, A, additional, Müller-Myhsok, B, additional, Lucae, S, additional, Maier, W, additional, Schwarz, M, additional, Vedder, H, additional, Kammerer-Ciernioch, J, additional, Pfennig, A, additional, Bauer, M, additional, Hautzinger, M, additional, Moebus, S, additional, Priebe, L, additional, Sivalingam, S, additional, Verhaert, A, additional, Schulz, H, additional, Czerski, P M, additional, Hauser, J, additional, Lissowska, J, additional, Szeszenia-Dabrowska, N, additional, Brennan, P, additional, McKay, J D, additional, Wright, A, additional, Mitchell, P B, additional, Fullerton, J M, additional, Schofield, P R, additional, Montgomery, G W, additional, Medland, S E, additional, Gordon, S D, additional, Martin, N G, additional, Krasnov, V, additional, Chuchalin, A, additional, Babadjanova, G, additional, Pantelejeva, G, additional, Abramova, L I, additional, Tiganov, A S, additional, Polonikov, A, additional, Khusnutdinova, E, additional, Alda, M, additional, Cruceanu, C, additional, Rouleau, G A, additional, Turecki, G, additional, Laprise, C, additional, Rivas, F, additional, Mayoral, F, additional, Kogevinas, M, additional, Grigoroiu-Serbanescu, M, additional, Propping, P, additional, Becker, T, additional, Rietschel, M, additional, Cichon, S, additional, Schratt, G, additional, and Nöthen, M M, additional

Published
2015
Full Text
View/download PDF

40. Genome-wide association study reveals two new risk loci for bipolar disorder

Author

Mühleisen, TW, Leber, M, Schulze, TG, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Forstner, AJ, Schumacher, J, Breuer, R, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Priebe, L, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnow, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Grof, P, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Propping, P, Becker, T, Rietschel, M, Nöthen, MM, Cichon, S, Mühleisen, TW, Leber, M, Schulze, TG, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Forstner, AJ, Schumacher, J, Breuer, R, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Priebe, L, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnow, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Grof, P, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Propping, P, Becker, T, Rietschel, M, Nöthen, MM, and Cichon, S

Abstract

Bipolar disorder (BD) is a common and highly heritable mental illness and genome-wide association studies (GWAS) have robustly identified the first common genetic variants involved in disease aetiology. The data also provide strong evidence for the presence of multiple additional risk loci, each contributing a relatively small effect to BD susceptibility. Large samples are necessary to detect these risk loci. Here we present results from the largest BD GWAS to date by investigating 2.3 million single-nucleotide polymorphisms (SNPs) in a sample of 24,025 patients and controls. We detect 56 genome-wide significant SNPs in five chromosomal regions including previously reported risk loci ANK3, ODZ4 and TRANK1, as well as the risk locus ADCY2 (5p15.31) and a region between MIR2113 and POU3F2 (6q16.1). ADCY2 is a key enzyme in cAMP signalling and our finding provides new insights into the biological mechanisms involved in the development of BD. © 2014 Macmillan Publishers Limited. All rights reserved.

Published
2014

42. Controlling asthma during pregnancy prevents asthma in children: a Berkson fallacy?

Author

Laprise C and Blanchette Ma

Subjects
Pulmonary and Respiratory Medicine, Fallacy, Pregnancy, Pediatrics, medicine.medical_specialty, business.industry, Disease, medicine.disease, respiratory tract diseases, Uncontrolled asthma, immune system diseases, medicine, business, Asthma
Abstract

To the Editors: Assessment of risk factors is absolutely essential to understanding how and why asthma develops in children. We read with great interest the study by Martel et al. 1, which was recently published in the European Respiratory Journal , and considered the association between mothers' asthma in pregnancy and their children's risk of developing the disease 1. In that case–control study, children whose mothers experienced moderate-to-severe uncontrolled asthma during pregnancy were at higher risk of being diagnosed with asthma than children whose mothers had …

Published
2010

45. Assessment of individual metabolic response to a low‐calorie smoothie challenge using targeted metabolomics

Author

Legault, J Thompson, primary, Tardif, J, additional, Cherkaoui, S, additional, Daneault, C, additional, Frayne, I Robillard, additional, Vaillancourt, V T, additional, Aubut, C, additional, Landry, J, additional, Cyr, D, additional, Waters, P, additional, Morin, C, additional, Laprise, C, additional, Des Rosiers, C, additional, and Consortium, LSFC, additional

Published
2012
Full Text
View/download PDF

47. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

Author

Coutinho, MF, primary, Encarnação, M, additional, Gomes, R, additional, da Silva Santos, L, additional, Martins, S, additional, Sirois-Gagnon, D, additional, Bargal, R, additional, Filocamo, M, additional, Raas-Rothschild, A, additional, Tappino, B, additional, Laprise, C, additional, Cury, GK, additional, Schwartz, IV, additional, Artigalás, O, additional, Prata, MJ, additional, and Alves, S, additional

Published
2010
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results