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5. Sémaglutide 2,4 mg administré de manière hebdomadaire améliore le métabolisme du glucose et le prédiabète chez des adultes en situation de surpoids ou d’obésité dans l’étude clinique STEP 1

Author

Cosson, E., primary, Perreault, L., additional, Davies, M., additional, Frias, J., additional, Laursen, P., additional, Lingvay, I., additional, Varbo, A., additional, Wilding, J., additional, Wallenstein, S., additional, and Le Roux, C., additional

Published
2022
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20. Selecting Core Outcomes for Randomised Effectiveness trials In Type 2 diabetes (SCORE- IT): A patient and healthcare professional consensus on a core outcome set for type 2 diabetes

Author

Harman, N.L., Wilding, J.P.H., Curry, D., Harris, J., Logue, J., Pemberton, R.J., Perreault, L., Thompson, G., Tunis, S., Williamson, P.R., SCORE-IT Study Team (Gailus-Durner, V.), SCORE-IT Study Team (Raess, M.), and SCORE-IT Study Team (Sanz-Moreno, A.)

Subjects
Male, Research design, randomized clinical trials, Delphi Technique, Endocrinology, Diabetes and Metabolism, Psychological intervention, Delphi method, 030204 cardiovascular system & hematology, outcomes, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Outcome Assessment, Health Care, Health care, 030212 general & internal medicine, Randomized Controlled Trials as Topic, Aged, 80 and over, Type 2 diabetes, Middle Aged, 3. Good health, Treatment Outcome, Research Design, Female, Adult, medicine.medical_specialty, Consensus, Adolescent, Endpoint Determination, Health Personnel, outcomes research, Young Adult, 03 medical and health sciences, Quality of life (healthcare), Stakeholder Participation, medicine, Humans, Epidemiology/Health Services Research, Aged, Implementation Science, business.industry, Clinical trial, Diabetes Mellitus, Type 2, Family medicine, Quality of Life, Patient Participation, Outcomes research, business
Abstract

ObjectivesHeterogeneity in outcomes measured across trials of glucose-lowering interventions for people with type 2 diabetes impacts on the ability to compare findings and may mean that the results have little importance to healthcare professionals and the patients that they care for. The SCORE-IT study (Selecting Core Outcomes for Randomised Effectiveness trials In Type 2 diabetes) has addressed this issue by establishing consensus on the most important outcomes for non-surgical interventions for hyperglycemia in type 2 diabetes.Research design and methodsA comprehensive list of outcomes was developed from registered clinical trials, online patient resources, qualitative literature and long-term studies in the field. This list was then scored in a two-round online Delphi survey completed by healthcare professionals, people with type 2 diabetes, researchers in the field and healthcare policymakers. The results of this online Delphi were discussed and ratified at a face-to-face consensus meeting.Results173 people completed both rounds of the online survey (116 people with type 2 diabetes, 37 healthcare professionals, 14 researchers and 6 policymakers), 20 of these attended the consensus meeting (13 people with type 2 diabetes and 7 healthcare professionals). Consensus was reached on 18 core outcomes across five domains, which include outcomes related to diabetes care, quality of life and long-term diabetes-related complications.ConclusionsImplementation of the core outcome set in future trials will ensure that outcomes of importance to all stakeholders are measured and reported, enhancing the relevance of trial findings and facilitating the comparison of results across trials.

Published
2019

23. Androgens And Cardiovascular Disease In Men

Author

Feingold, K., Anawalt, B., Boyce, A., Chrousos, G., Dungan, K., Grossman, A., Hershman, J., Kaltsas, G., Koch, C., Kopp, P., Korbonits, M., McLachlan, R., Morley, J., New, M., Perreault, L., Purnell, J., Rebar, R., Singer, F., Terence, D., Vinik, A., Wilson, D., Yeap, B., Dwivendi, G., Chih, Hui Jun, Reid, Christopher, Feingold, K., Anawalt, B., Boyce, A., Chrousos, G., Dungan, K., Grossman, A., Hershman, J., Kaltsas, G., Koch, C., Kopp, P., Korbonits, M., McLachlan, R., Morley, J., New, M., Perreault, L., Purnell, J., Rebar, R., Singer, F., Terence, D., Vinik, A., Wilson, D., Yeap, B., Dwivendi, G., Chih, Hui Jun, and Reid, Christopher

Published
2019

25. Abstracts

Author

Lacombe, P., Blaise, G., Plante, F., Hollmann, C., Penning, D. H., Patrick, J., Brien, J., Orser, B., Bertlik, M., Fedorko, L., O’Brodovich, H., Santos, A. C., Pedersen, H., Morishima, H. O., Finster, M., Arthur, G. R., Covino, B. G., Perreault, C., Albert, J. F., Couture, P., Meloche, R., Elliott, R. D., Stockwell, M., Roy, W. L., Lerman, J., McIntyre, B. G., Yee, D. A., Hunziker, P., Koch, J. P., Devitt, J. H., Daley, M. D., Colmenares, M. E., Norman, P. H., Sandler, A. N., Oyston, J. P., Knill, R. L., Skinner, M. I., Novick, T., Vandenberghe, H. M., Moote, C. A., Donati, François, Meistelman, Claude, Plaud, Benoit, Guay, J., Reinberg, C., Rivard, G. E., Poitras, B., Mathews, S., David, M., Dawe, G., Hall, R. I., Stringer D. G., Sandler A. N., Panos L., Lawson S., Einarson T. R., Badner N., Fiset, P., Balendran, P., Donati, F., Bevan, D. R., Hung, O. R., Varvel, J., Shafer, S., Stanski, D. R., Crawford, M. W., Carmichael, F. J., Orrego, H., Saldivia, V., Lerman, J., Ralley, F. E., Murkin, J. M., Hudson, R. J., Dunn, G., Perreault, L., Hardy, J. F., Donelly, M., Scott, W. A. C., Daly, D. S., McAllister, J. D., Sharpe, M. D., Manninen, P. H., Cuillerier, D. J., Gelb, A. W., Nantau, W. E., Leon, J. E., Bissonnette, B., Davies, K. R., Gelb, A., Boughner, D. R., Bisnaire, D., Shokeir, O., Code, W. E., Hertz, L., White, H. S., Hong, M., Milne, B., Loomis, C., Jhamandas, K., Lam A. M., Slee T., Hirst R., Cooper J. O., Pavlin E. G., Sundling N., Mutch, W. A. C., Ringaert, K., Ewart, F., White, I., Donen, N., Winn H. R., Grady M. S., Murkin, J. M., Farrar, J. K., McNeill, B., Lok, P., Nalder, B., Jivraj, K., Golar, S., Ford, G., Rosenal, T., Puchalski, S. A., Morison, D. H., Collins, R. M., Gascoyne, R. D., Taylor, R. H., Lerman, J., Gauthier R. A., Chung F., Dyck B., Romanelli J. R., Chapman K. R., Lavoie, J., Marcin, R., Tétrault, J. P., Murphy, I. L., Splinter, W. M., Segstro, R., Morley-Forster, P. K., Lu, G., Lessard, M. R., Trépanier, C. A., Brochu, J. G., Coté, J. J., Denault, P. H., Baribault, J. P., Gordon, A. R., O’Connor, J. P., Ramsay, J. G., Malcolm, I., Chang, P. C., Reynolds, F. B., Lang, S. A., Ha, H. C., Grant, R. P., Dolman, J. F., Harper, J. A., White, S. A., Parsons, D. G., Evans, K. G., Merrick, P., Trivedi, Narendra S., Halpern, Meyer, Robalino, Joffre, Shevde, Ketan, Wang, B. C., Hiller, J. M., Simon, E. J., Hillman, D. E., Li, D., Rosenberg, C., Turndorf, H., Penning, J. P., Nagasaka, Hiroshi, Yaksh, T. L., Forrest, J. B., Lam, L., Woo, J., Rifkind, A., Broadman, L., Hannallah, R., DeLeon, E., Reff, R., Tanaka, K., Watanabe, R., Harada, T., Dan, K., Aull, L., Woodward, E. R., Rout, R. W., Paulus, D. A., Reimer, E. J., Badner, N. H., Komar, W. E., Fancourt-Smith, P. F., McEwen, J. A., Warriner, C. B., Moore, R., Rosenblatt, M., Merai, B., Robalino, J., Shevde, K., Bryk, D., McCormack, J. P., Levine, M., Forster-Coull, J., Stasiuk, R. B. P., Jenkins, L. C., Chen, Kunzhou, Pan, Jianhui, Ji, Xuan, Vaidya, D., Tetzlaff, J. E., Baird, B. A., Yoon, H. J., Wood, G., Simpson, T., Pillow, K. J., Lampe, K. M., Hansen, L. M., Foldvari, M., Courtice, I. D., MacLeod, B. A., Panos L., Lawson S., Koren G., Volgyesi, G. A., Kolesar, R., Wolf, G. L., Sidebotham, G. W., Sprung, J., Gamulin, S., Bosnjak, Z. J., Kampine, J. P., Doyle, D. John, Harioka, T., Sone, T., Kakuyama, M., Miyake, C., Toda, H., Sosis, M., Oka, T., Ohwada, T., Kochi, A., Mizuguchi, T., Kay, J. C., Beauchamp, R. J., Mazer, C. D., Inada, E., Iwahashi, K., Aoki, K., Takanashi, S., Kohama, M., Aoki, Y., Poole, L., Murphy, J. T., Moffitt, E. A., Jolly, D., Finegan, B. A., Beach, J., Gulamhusein, S., Vincent, D., Sullivan, P. J., Martineau, R. J., Miller, D. R., Lewis, P., Staniland, J., Cuppage, A., Davies, J. M., Rose, D. K., Cohen, M. M., Rogers, K. H., Gellner, D., Duncan, P. G., Johnson, J. A., Cohen, J. A., Boisvenu, G., Haley, L. D., Parlow, J. L., Cervenko, F. W., Dillon, F., Harwood, T., Kolesar, R., Volgyesi, G., Reid, C. W., Samson, B., Beattie, W. S., Goldsmith, C. H., Sims, C. H., Welborn, L. G., Hannallah, R. S., Higgins, T., Fink, R., Luban, N., Murray, D. J., Forbes, R. B., Mehta, M., Dull, D. L., Horimoto, Y., Naide, M., Schaefer, J. D., Bonn, G. E., Rhine, E. J., MacNeill, H. B., Ménard, E. A., Roberts, D. J., Komocar, L., Kay, J., Chevrier, R., Marsh, B. J., Morton, N. S., White, M., Kenny, G. N. C., Yamashita, M., Tsuji, M., Malviya, S., Swartz, J., Brown, K. A., Holtby, H., Ein, S., Shandling, B., Smith, M. F., Beauprie, I. G., Clark, A. G., Keith, I. C., Spence, D., Ogata, Hiromaru, Midorikawa, Yukio, Doyle, D. John, Teves, Leonides Y., Jhawar, Balraj S., Kawamura, Takae, Wakusawa, Reiji, Hackmann, T., Steward, D. J., Maltby, J. R., Loken, R. G., Watson, N. C., Kubota, Tatsuya, Katano, Toshio, Yoshizawa, Mutsumi, Ohtake, Kazuei, Onodera, Fumio, Yoshitake, S., Matsumoto, S., Miyakawa, H., Takahashi, T., Kitano, T., Iwasaka, H., Hayano, Y., Noguchi, T., Taniguchi, K., Honda, N., Koyama, K., Takahashi, J., Ochiai, R., Takeda, J., Nagano, M., Rolbin, S., Hew, E., Morningstar, B., Mahesh, K., Yukioka, H., Fujimori, M., Siriwardhana, S. A., Kawas, A., Yates, S., Gulden, H., Upton, J. M., Giesecke, A. H., Suzuki, H., Maru, E., Fujita, M., Pagliarello, G., Simons, J., Irita, K., Shafiq, J., Tareen, F. M., Yoshitake, J., Suderman, V. S., Crosby, E. T., Mallon, J. S., Dunn, G. L., Hatano, Y., Nakamura, K., Nishiwada, M., Mori, Kenjiro, Pounder, D. R., Blackstock, D., Steward, D., Kumagai, M., Takinami, M., Tanaka, S., Shudo, Y., Amaki, Y., Kobayashi, K., Jansen, G. F. A., Kedaria, M., Zuurmond, W. W. A., Hartley, E., St. Louis, P., Rybczynski, J., McLeod, M. E., Byrick, R. J., Mullen, J. Brendan, Wong, P. Y., Wigglesworth, D., Kay, J. Colin, Swartz, J. S., Gold, M., Braude, B. M., Dolovich, J., Gilmour, R. F., Sutherland, L. R., O’Connor, G., Riding, K., Laird, B., Riou, S., Gross, Michael, Tang, T., Halpern, S. H., Roy, A. G., Côté, J. J., Lindblad, T., Buckley, D. N., Oxom, D. C., Whatley, G. S., Knox, J. W. D., Hooper, J. G. V., Dolman, J., Faneourt-Smith, P. F., Torsher, L., Gao, Yuhui, Chai, Xiaoqing, O’Leary, G., Qureshi, S. A., Laganiere, S., McGilveray, I., Boylan, J. F., Hassard, P., Teasdale, S. J., Kapnoudhis, P., Vaghadia, H., Turnbull, K. M., Villeneuve, E., Buluran, J., Amyot, Y., Tanguay, M., Pharm, B., Beique, G., Sidi, A., Rush, W., Clanachan, A. S., Duke, P. C., Leroux, M., Corne, R., Patton, N., Greenberg, D., Parrott, J., Desjardins, P., Merchant R. N., Brown W. F., Watson B. V., Burrows, F. A., Tatman, D. J., Starr, J. M., Symreng, T., Kall, R. I., Schweiger, I. M., Finlayson, D. C., Weisel, R. D., Ivanov, J., Mickle, D. A., Fuller, John, Lu, Grant, Dain, Steven, McLean, R. F., Noble, W. H., Kolton, M., Newfield, A. M., Lipton, J. M., Ide, T., Isono, S., Kochi, T., Izumi, Y., Erian, R. F., Stafford-Smith, M., Yamada, M., Johnson, D., Hurst, T., Mayers, I., Tsuda, Takako, Takeuchi, Mikio, Ishikawa, Kiyoshi, Ando, Hiroshi, Hanamura, Yasunori, Takasu, Hiroe, Hiyama, A., and Cardiac Anaesthesia Research Group

Published
1990
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29. Modeling Hydrological Inflow Persistence Using Paleoclimate Reconstructions on the Québec‐Labrador (Canada) Peninsula.

Author

Nasri, B. R., Boucher, É., Perreault, L., Rémillard, B. N., Huard, D., and Nicault, A.

Subjects
HIDDEN Markov models, WOOD density, TIME series analysis, PALEOCLIMATOLOGY, PALEOHYDROLOGY, MARKOV processes
Abstract

Annual inflow forecasts are often based on historical time series, where every year is considered equally likely to reoccur. This process ignores the persistence of dry/wet conditions often observed in time series, behavior that is of utmost importance for hydroelectric energy producers. However, the modeling of persistence properties is challenging when only short time series are available for calibration. Here, we use Gaussian hidden Markov models to describe the regime‐switching behavior, where the next year's inflow depends on the current estimated regime. For four large hydropower reservoirs on the Québec‐Labrador Peninsula, a Gaussian hidden Markov model is calibrated on both a 30‐year observational record and a 190‐year paleoclimatic inflow reconstruction. Each reconstruction is a composite of three reconstruction methods drawing on five different tree‐ring proxies (ring widths, minimal wood density, maximal wood density, δ13C, and δ18O). The calibration on the reconstructed series finds two hydrological regimes, while the calibration on the observed data has only one regime for three out of four watersheds. Yearly hindcasts with the two calibrated Gaussian hidden Markov models suggest that for all four watersheds, extending the time series with reconstructions improves the model's predictive accuracy. This approach does not explicitly account for the differing accuracy of the observational and reconstructed time series or compare hidden Markov models to other models of persistence. Key Points: Reservoir inflows have been reconstructed from tree‐ring proxies over the last 200 years for four large watersheds on the Québec‐LabradorGaussian hidden Markov models accurately simulate the regime‐switching behavior seen in the observed and reconstructed inflow time seriesThe accuracy of annual inflow forecasts can be improved by extending observational time series with 200‐year paleoclimatic reconstructions [ABSTRACT FROM AUTHOR]

Published
2020
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30. An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Author

Morris, D, Pearson, R, Cormican, P, Kenny, E, O'Dushlaine, C, Perreault, L, Giannoulatou, E, Tropea, D, Maher, B, Wormley, B, Kelleher, E, Fahey, C, Molinos, I, Bellini, S, Pirinen, M, Strange, A, Freeman, C, Thiselton, D, Elves, R, Regan, R, Ennis, S, Dinan, T, McDonald, C, Murphy, K, and O'Callaghan, E

Abstract

Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case Control Consortium 2 (WTCCC2) schizophrenia sample of 1564 cases and 1748 controls all from Ireland, and further extended the analysis to include an additional 5196 UK controls. We found association with duplications at chr20p12.2 (P = 0.007) and evidence of replication in large independent European schizophrenia (P = 0.052) and UK bipolar disorder case-control cohorts (P = 0.047). A combined analysis of Irish/UK subjects including additional psychosis cases (schizophrenia and bipolar disorder) identified 22 carriers in 11 707 cases and 10 carriers in 21 204 controls [meta-analysis Cochran-Mantel-Haenszel P-value = 2 × 10(-4); odds ratio (OR) = 11.3, 95% CI = 3.7, ∞]. Nineteen of the 22 cases and 8 of the 10 controls carried duplications starting at 9.68 Mb with similar breakpoints across samples. By haplotype analysis and sequencing, we identified a tandem ~149 kb duplication overlapping the gene p21 Protein-Activated Kinase 7 (PAK7, also called PAK5) which was in linkage disequilibrium with local haplotypes (P = 2.5 × 10(-21)), indicative of a single ancestral duplication event. We confirmed the breakpoints in 8/8 carriers tested and found co-segregation of the duplication with illness in two additional family members of one of the affected probands. We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.

Published
2016

33. Lifestyle and metformin ameliorate insulin sensitivity independently of the genetic burden of established insulin resistance variants in diabetes prevention program participants

Author

Hivert, MF, Christophi, CA, Franks, PW, Jablonski, KA, Ehrmann, DA, Kahn, SE, Horton, ES, Pollin, TI, Mather, KJ, Perreault, L, Barrett-Connor, E, Knowler, WC, and Florez, JC

Subjects
endocrine system diseases, nutritional and metabolic diseases, humanities
Abstract

© 2016 by the American Diabetes Association.Large genome-wide association studies of glycemic traits have identified genetics variants that are associated with insulin resistance (IR) in the general population. It is unknown whether people with genetic enrichment for these IR variants respond differently to interventions that aim to improve insulin sensitivity. We built a genetic risk score (GRS) based on 17 established IR variants and effect sizes (weighted IR-GRS) in 2,713 participants of the Diabetes Prevention Program (DPP) with genetic consent. We tested associations between the weighted IR-GRS and insulin sensitivity index (ISI) at baseline in all participants, and with change in ISI over 1 year of follow-up in the DPP intervention (metformin and lifestyle) and control (placebo) arms. All models were adjusted for age, sex, ethnicity, and waist circumference at baseline (plus baseline ISI for 1-year ISI change models). A higher IR-GRS was associated with lower baseline ISI (β = 20.754 [SE = 0.229] log-ISI per unit, P = 0.001 in fully adjusted models). There was no differential effect of treatment for the association between the IR-GRS on the change in ISI; higher IR-GRS was associated with an attenuation in ISI improvement over 1 year (β = 20.520 [SE = 0.233], P = 0.03 in fully adjusted models; all treatment arms). Lifestyle intervention and metformin treatment improved the ISI, regardless of the genetic burden of IR variants.

Published
2016

35. Advanced Nanostructured Anodes for High Energy Li/Na-ion Batteries

Author

Colo', Francesca, Nair, JIJEESH RAVI, Bella, Federico, Perreault, L. L., Lamberti, Andrea, Fiorilli, SONIA LUCIA, Kleitz, F., Meligrana, Giuseppina, and Gerbaldi, Claudio

Subjects
Lithium-ion battery, Sodium-ion battery, TiO2 nanotubes, Anode, Graphene, Copper oxide
Published
2016

36. Paternal age explains a major portion of De Novo germline mutation rate variability in healthy individuals

Author

Girard, S.L, Bourassa, C.V, Lemieux Perreault, L.-P, Legault, M.-A, Barhdadi, A, Ambalavanan, A, Brendgen, M, Vitaro, F, Noreau, A, Dionne, G, Tremblay, R.E, Dion, P.A, Boivin, M, Dubé, M.-P, Rouleau, G. A, Girard, S.L, Bourassa, C.V, Lemieux Perreault, L.-P, Legault, M.-A, Barhdadi, A, Ambalavanan, A, Brendgen, M, Vitaro, F, Noreau, A, Dionne, G, Tremblay, R.E, Dion, P.A, Boivin, M, Dubé, M.-P, and Rouleau, G. A

Published
2016

37. Paternal age explains a major portion of De novo germline mutation rate variability in healthy individuals

Author

Girard, Simon, Bourassa, C. V., Lemieux Perreault, L. P., Legault, M. A., Barhdadi, A., Ambalavanan, A., Brendgen, M., Vitaro, F., Noreau, A., Dionne, G., Tremblay, R. E., Dion, P. A., Boivin, Michel, Dubé, M. P., Rouleau, G. A., Girard, Simon, Bourassa, C. V., Lemieux Perreault, L. P., Legault, M. A., Barhdadi, A., Ambalavanan, A., Brendgen, M., Vitaro, F., Noreau, A., Dionne, G., Tremblay, R. E., Dion, P. A., Boivin, Michel, Dubé, M. P., and Rouleau, G. A.

Abstract

De novo mutations (DNM) are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observation that increasing paternal age increases the risk for a number of diseases. Using disease-free familial quartets we show that there is a strong positive correlation between paternal age and germline DNM in healthy subjects. We also observed that germline CNVs do not follow the same trend, suggesting a different mechanism. Finally, we observed that DNM were not evenly distributed across the genome, which adds support to the existence of DNM hotspots.

Published
2016

38. An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Author

Perreault, L.-P. L., Maher, B. S., Bellini, S., Craddock, N., O'Callaghan, E., Scolnick, E., Molinos, I., Freeman, C., Ennis, S., Elves, R. L., Kenny, E. M., Thiselton, D. L., Walsh, D., Cormican, P., Waddington, J. L., Dinan, T. G., Stone, J., McDonald, C., Regan, R., Grozeva, D., Wormley, B., Morris, D. W., Kelleher, E., Strange, A., O'Dushlaine, C. T., Giannoulatou, E., Fahey, C., Pirinen, M., O'Donovan, M., Murphy, K. C., Pearson, R. D., and Tropea, D.

Abstract

Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case Control Consortium 2 (WTCCC2) schizophrenia sample of 1564 cases and 1748 controls all from Ireland, and further extended the analysis to include an additional 5196 UK controls. We found association with duplications at chr20p12.2 (P = 0.007) and evidence of replication in large independent European schizophrenia (P = 0.052) and UK bipolar disorder case-control cohorts (P = 0.047). A combined analysis of Irish/UK subjects including additional psychosis cases (schizophrenia and bipolar disorder) identified 22 carriers in 11 707 cases and 10 carriers in 21 204 controls [meta-analysis Cochran–Mantel–Haenszel P-value = 2 × 10−4; odds ratio (OR) = 11.3, 95% CI = 3.7, ∞]. Nineteen of the 22 cases and 8 of the 10 controls carried duplications starting at 9.68 Mb with similar breakpoints across samples. By haplotype analysis and sequencing, we identified a tandem ∼149 kb duplication overlapping the gene p21 Protein-Activated Kinase 7 (PAK7, also called PAK5) which was in linkage disequilibrium with local haplotypes (P = 2.5 × 10−21), indicative of a single ancestral duplication event. We confirmed the breakpoints in 8/8 carriers tested and found co-segregation of the duplication with illness in two additional family members of one of the affected probands. We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.

Published
2014
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41. Abstracts of papers presented at the annual meeting,

Author

Prigent, F., Hubscher, C., Oksenlhendler, G., Soyer, R., Winkier, C., Moffitt, E., Sethna, D., Gray, R., Bussell, J., Raymond, M., Matloff, J., Sprigge, J. M., Wynands, J. E., Whalley, D. G., Bevan, D., Nathan, H., Townsend, G. E., Patel, Y., Wong, P., Townsend, G., Patel, Y., King, F. G., Manson, H. J., Snellen, J. W., Chang, K. S., Gotta, Alexander W., Sullivan, Colleen A., Fournier, Louis, Major, Diane, Normandin, N., Perreault, L., Plamondon, L., Rousseau, P., Blain, R., Girard, M., Forget, G., Clark, G S., Castro, C., Teasdale, S. J., Grady, M., Glynn, M. F. X., Tweed, W. A., Donen, N., Pope, W. D. B., Persaud, T. V. N., Devaux, C., Roussignol, M. C., Vinckler, C., Finucane, B. T., Floyd, J. B., Petro, D. J., Braswell, R., Morison, D. H., Dunn, G. L., Fargas-Babjak, A. M., Moudgil, G. C., Smedstad, K. G., Woo, J., Davies, A. O., Morison, H., Gyasi, Williams H. K., Bevan, D. R., Williams, R. T., Sloan, I. A. J., McLeod, M. E., Anderton, B. G., Steward, D. J., Chinyanga, H. M., Vandenberhe, H., Soldin, S. J., MacLeod, S., Abrams, L., Griepp, R., Ergin, A., Matsuoka, M,, Bussieres, J., Heroux, M., Joncas, H., Randour, P., Donati, F., Friesen, Robert M., Bonet, Jorge F., Hardy, J. F., Boulanger, M., Maille, J. G., Taillefer, J., Sahab, P., Delorme, M., Cunningham, A. J., Patrick Kelly, C., Farmer, James, Watson, A. G., Moote, C. A., Knill, R. L., Clement, J. L., Mutch, W. A., Culligan, J. D., Thomson, l. R., Rogers, Kent H., Milne, Brian, and Salerno, Tomas A.

Published
1982
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44. An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.

Author

Morris, DW, Pearson, RD, Cormican, P, Kenny, EM, O'Dushlaine, CT, Perreault, L-PL, Giannoulatou, E, Tropea, D, Maher, BS, Wormley, B, Kelleher, E, Fahey, C, Molinos, I, Bellini, S, Pirinen, M, Strange, A, Freeman, C, Thiselton, DL, Elves, RL, Regan, R, Ennis, S, Dinan, TG, McDonald, C, Murphy, KC, O'Callaghan, E, Waddington, JL, Walsh, D, O'Donovan, M, Grozeva, D, Craddock, N, Stone, J, Scolnick, E, Purcell, S, Sklar, P, Coe, B, Eichler, EE, Ophoff, R, Buizer, J, Szatkiewicz, J, Hultman, C, Sullivan, P, Gurling, H, Mcquillin, A, St Clair, D, Rees, E, Kirov, G, Walters, J, Blackwood, D, Johnstone, M, Donohoe, G, International Schizophrenia Consortium, SGENE+ Consortium, O'Neill, FA, Wellcome Trust Case Control Consortium 2, Kendler, KS, Gill, M, Riley, BP, Spencer, CCA, Corvin, A, Morris, DW, Pearson, RD, Cormican, P, Kenny, EM, O'Dushlaine, CT, Perreault, L-PL, Giannoulatou, E, Tropea, D, Maher, BS, Wormley, B, Kelleher, E, Fahey, C, Molinos, I, Bellini, S, Pirinen, M, Strange, A, Freeman, C, Thiselton, DL, Elves, RL, Regan, R, Ennis, S, Dinan, TG, McDonald, C, Murphy, KC, O'Callaghan, E, Waddington, JL, Walsh, D, O'Donovan, M, Grozeva, D, Craddock, N, Stone, J, Scolnick, E, Purcell, S, Sklar, P, Coe, B, Eichler, EE, Ophoff, R, Buizer, J, Szatkiewicz, J, Hultman, C, Sullivan, P, Gurling, H, Mcquillin, A, St Clair, D, Rees, E, Kirov, G, Walters, J, Blackwood, D, Johnstone, M, Donohoe, G, International Schizophrenia Consortium, SGENE+ Consortium, O'Neill, FA, Wellcome Trust Case Control Consortium 2, Kendler, KS, Gill, M, Riley, BP, Spencer, CCA, and Corvin, A

Abstract

Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case Control Consortium 2 (WTCCC2) schizophrenia sample of 1564 cases and 1748 controls all from Ireland, and further extended the analysis to include an additional 5196 UK controls. We found association with duplications at chr20p12.2 (P = 0.007) and evidence of replication in large independent European schizophrenia (P = 0.052) and UK bipolar disorder case-control cohorts (P = 0.047). A combined analysis of Irish/UK subjects including additional psychosis cases (schizophrenia and bipolar disorder) identified 22 carriers in 11 707 cases and 10 carriers in 21 204 controls [meta-analysis Cochran-Mantel-Haenszel P-value = 2 × 10(-4); odds ratio (OR) = 11.3, 95% CI = 3.7, ∞]. Nineteen of the 22 cases and 8 of the 10 controls carried duplications starting at 9.68 Mb with similar breakpoints across samples. By haplotype analysis and sequencing, we identified a tandem ~149 kb duplication overlapping the gene p21 Protein-Activated Kinase 7 (PAK7, also called PAK5) which was in linkage disequilibrium with local haplotypes (P = 2.5 × 10(-21)), indicative of a single ancestral duplication event. We confirmed the breakpoints in 8/8 carriers tested and found co-segregation of the duplication with illness in two additional family members of one of the affected probands. We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.

Published
2014

45. Volcano-induced regime shifts in millennial tree-ring chronologies from northeastern North America

Author

Gennaretti, Fabio, Arseneault, D., Nicault, A., Perreault, L., Begin, Y., Gennaretti, Fabio, Arseneault, D., Nicault, A., Perreault, L., and Begin, Y.

Abstract

Dated records of ice-cap growth from Arctic Canada recently suggested that a succession of strong volcanic eruptions forced an abrupt onset of the Little Ice Age between A.D. 1275 and 1300 [Miller GH, et al. (2012) Geophys Res Lett 39(2):L02708, 10.1029/2011GL050168]. Although this idea is supported by simulation experiments with general circulation models, additional support from field data are limited. In particular, the Northern Hemisphere network of temperature-sensitive millennial tree-ring chronologies, which principally comprises Eurasian sites, suggests that the strongest eruptions only caused cooling episodes lasting less than about 10 y. Here we present a new network of millennial tree-ring chronologies from the taiga of northeastern North America, which fills a wide gap in the network of the Northern Hemisphere's chronologies suitable for temperature reconstructions and supports the hypothesis that volcanoes triggered both the onset and the coldest episode of the Little Ice Age. Following the well-expressed Medieval Climate Anomaly (approximately A.D. 910-1257), which comprised the warmest decades of the last millennium, our tree-ring-based temperature reconstruction displays an abrupt regime shift toward lower average summer temperatures precisely coinciding with a series of 13th century eruptions centered around the 1257 Samalas event and closely preceding ice-cap expansion in Arctic Canada. Furthermore, the successive 1809 (unknown volcano) and 1815 (Tambora) eruptions triggered a subsequent shift to the coldest 40-y period of the last 1100 y. These results confirm that series of large eruptions may cause region-specific regime shifts in the climate system and that the climate of northeastern North America is especially sensitive to volcanic forcing.

Published
2014
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48. Methylomic changes during conversion to psychosis

Author

Kebir, O, Chaumette, B, Rivollier, F, Miozzo, F, Lemieux Perreault, L P, Barhdadi, A, Provost, S, Plaze, M, Bourgin, J, Gaillard, R, Mezger, V, Dubé, M-P, and Krebs, M-O

Abstract

The onset of psychosis is the consequence of complex interactions between genetic vulnerability to psychosis and response to environmental and/or maturational changes. Epigenetics is hypothesized to mediate the interplay between genes and environment leading to the onset of psychosis. We believe we performed the first longitudinal prospective study of genomic DNA methylation during psychotic transition in help-seeking young individuals referred to a specialized outpatient unit for early detection of psychosis and enrolled in a 1-year follow-up. We used Infinium HumanMethylation450 BeadChip array after bisulfite conversion and analyzed longitudinal variations in methylation at 411 947 cytosine–phosphate–guanine (CpG) sites. Conversion to psychosis was associated with specific methylation changes. Changes in DNA methylation were significantly different between converters and non-converters in two regions: one located in 1q21.1 and a cluster of six CpG located in GSTM5 gene promoter. Methylation data were confirmed by pyrosequencing in the same population. The 100 top CpGs associated with conversion to psychosis were subjected to exploratory analyses regarding the related gene networks and their capacity to distinguish between converters and non-converters. Cluster analysis showed that the top CpG sites correctly distinguished between converters and non-converters. In this first study of methylation during conversion to psychosis, we found that alterations preferentially occurred in gene promoters and pathways relevant for psychosis, including oxidative stress regulation, axon guidance and inflammatory pathways. Although independent replications are warranted to reach definitive conclusions, these results already support that longitudinal variations in DNA methylation may reflect the biological mechanisms that precipitate some prodromal individuals into full-blown psychosis, under the influence of environmental factors and maturational processes at adolescence.

Published
2017
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