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1. Life course of retrospective harmonization initiatives:key elements to consider

Author

Fortier, I. (Isabel), Wey, T. W. (Tina W.), Bergeron, J. (Julie), de Moira, A. P. (Angela Pinot), Nybo-Andersen, A.-M. (Anne-Marie), Bishop, T. (Tom), Murtagh, M. J. (Madeleine J.), Miočević, M. (Milica), Swertz, M. A. (Morris A.), van Enckevort, E. (Esther), Marcon, Y. (Yannick), Mayrhofer, M. T. (Michaela. Th.), Ornelas, J. P. (Jos Pedro), Sebert, S. (Sylvain), Santos, A. C. (Ana Cristina), Rocha, A. (Artur), Wilson, R. C. (Rebecca C.), Griffith, L. E. (Lauren E.), Burton, P. (Paul), Fortier, I. (Isabel), Wey, T. W. (Tina W.), Bergeron, J. (Julie), de Moira, A. P. (Angela Pinot), Nybo-Andersen, A.-M. (Anne-Marie), Bishop, T. (Tom), Murtagh, M. J. (Madeleine J.), Miočević, M. (Milica), Swertz, M. A. (Morris A.), van Enckevort, E. (Esther), Marcon, Y. (Yannick), Mayrhofer, M. T. (Michaela. Th.), Ornelas, J. P. (Jos Pedro), Sebert, S. (Sylvain), Santos, A. C. (Ana Cristina), Rocha, A. (Artur), Wilson, R. C. (Rebecca C.), Griffith, L. E. (Lauren E.), and Burton, P. (Paul)

Abstract

Optimizing research on the developmental origins of health and disease (DOHaD) involves implementing initiatives maximizing the use of the available cohort study data; achieving sufficient statistical power to support subgroup analysis; and using participant data presenting adequate follow-up and exposure heterogeneity. It also involves being able to undertake comparison, cross-validation, or replication across data sets. To answer these requirements, cohort study data need to be findable, accessible, interoperable, and reusable (FAIR), and more particularly, it often needs to be harmonized. Harmonization is required to achieve or improve comparability of the putatively equivalent measures collected by different studies on different individuals. Although the characteristics of the research initiatives generating and using harmonized data vary extensively, all are confronted by similar issues. Having to collate, understand, process, host, and co-analyze data from individual cohort studies is particularly challenging. The scientific success and timely management of projects can be facilitated by an ensemble of factors. The current document provides an overview of the ‘life course’ of research projects requiring harmonization of existing data and highlights key elements to be considered from the inception to the end of the project.

Published
2022

2. Overview of retrospective data harmonisation in the MINDMAP project: Process and results

Author

Wey, T.W. (Tina), Doiron, D. (Dany), Wissa, R. (Rita), Fabre, G. (Guillaume), Motoc, I. (Irina), Noordzij, J.M. (Mark), Ruiz, M.A. (Milagros), Timmermans, E.J. (Erik), Lenthe, F.J. (Frank) van, Bobak, M. (Martin), Chaix, B. (Basile), Krokstad, S. (Steinar), Raina, P. (Parminder), Sund, E.R. (Erik), Beenackers, M.A. (Marielle), Fortier, I. (Isabel), Wey, T.W. (Tina), Doiron, D. (Dany), Wissa, R. (Rita), Fabre, G. (Guillaume), Motoc, I. (Irina), Noordzij, J.M. (Mark), Ruiz, M.A. (Milagros), Timmermans, E.J. (Erik), Lenthe, F.J. (Frank) van, Bobak, M. (Martin), Chaix, B. (Basile), Krokstad, S. (Steinar), Raina, P. (Parminder), Sund, E.R. (Erik), Beenackers, M.A. (Marielle), and Fortier, I. (Isabel)

Abstract

Background: The MINDMAP project implemented a multinational data infrastructure to investigate the direct and interactive effects of urban environments and individual determinants of mental well-being and cognitive function in ageing populations. Using a rigorous process involving multiple teams of experts, longitudinal data from six cohort studies were harmonised to serve MINDMAP objectives. This article documents the retrospective data harmonisation process achieved based on the Maelstrom Research approach and provides a descriptive analysis of the harmonised data generated. Methods: A list of core variables (the DataSchema) to be generated across cohorts was first defined, and the potential for cohort-specific data sets to generate the DataSchema variables was assessed. Where relevant, algorithms were developed to process cohort-specific data into DataSchema format, and information to be provided to data users was documented. Procedures and harmonisation decisions were thoroughly documented. Results: The MINDMAP DataSchema (v2.0, April 2020)

Published
2020
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3. Fostering population-based cohort data discovery: The maelstrom research cataloguing toolkit

Author

Bergeron, J. (Julie), Doiron, D. (Dany), Marcon, Y. (Yannick), Ferretti, V. (Vincent), Fortier, I. (Isabel), Bergeron, J. (Julie), Doiron, D. (Dany), Marcon, Y. (Yannick), Ferretti, V. (Vincent), and Fortier, I. (Isabel)

Abstract

Background The lack of accessible and structured documentation creates major barriers for investigators interested in understanding, properly interpreting and analyzing cohort data and biological samples. Providing the scientific community with open information is essential to optimize usage of these resources. A cataloguing toolkit is proposed by Maelstrom Research to answer these needs and support the creation of comprehensive and user-friendly study- and network-specific web-based metadata catalogues. Methods Development of the Maelstrom Research cataloguing toolkit was initiated in 2004. It was supported by the exploration

Published
2018
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4. A framework for measurement and harmonization of pediatric multiple sclerosis etiologic research studies: The Pediatric MS Tool-Kit

Author

Magalhaes, S., Banwell, B. (Brenda), Bar-Or, A. (Amit), Fortier, I. (Isabel), Hanwell, H.E., Lim, M, Matt, G.E., Neuteboom, R.F. (Rinze), O'Riordan, D.L., Schneider, P.K., Pugliatti, M., Shatenstein, B., Tansey, C.M., Wassmer, E. (Evangeline), Wolfson, C., Magalhaes, S., Banwell, B. (Brenda), Bar-Or, A. (Amit), Fortier, I. (Isabel), Hanwell, H.E., Lim, M, Matt, G.E., Neuteboom, R.F. (Rinze), O'Riordan, D.L., Schneider, P.K., Pugliatti, M., Shatenstein, B., Tansey, C.M., Wassmer, E. (Evangeline), and Wolfson, C.

Abstract

Background: While studying the etiology of multiple sclerosis (MS) in children has several methodological advantages over studying etiology in adults, studies are limited by small sample sizes. Objective: Using a rigorous methodological process, we developed the Pediatric MS Tool-Kit, a measurement framework that includes a minimal set of core variables to assess etiological risk factors. Methods: We solicited input from the International Pediatric MS Study Group to select three risk factors: environmental tobacco smoke (ETS) exposure, sun exposure, and vitamin D intake. To develop the Tool-Kit, we used a Delphi study involving a working group of epidemiologists, neurologists, and content experts from North America and Europe. Results: The Tool-Kit includes six core variables to measure ETS, six to measure sun exposure, and six to measure vitamin D intake. The Tool-Kit can be accessed online (www.maelstrom-research.org/mica/ network/tool-kit). Conclusion: The goals of the Tool-Kit are to enhance exposure measurement in newly designed pediatric MS studies and comparability of results across studies, and in the longer term to facilitate harmonization of studies, a methodological approach that can be used to circumvent issues of small sample sizes. We believe the Tool-Kit will prove to be a valuable resource to guide pediatric MS researchers in developing study-specific questionnaire.

Published
2018
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5. MINDMAP: Establishing an integrated database infrastructure for research in ageing, mental well-being, and the urban environment

Author

Beenackers, M.A. (Marielle), Doiron, D. (Dany), Fortier, I. (Isabel), Noordzij, J.M. (J. Mark), Reinhard, E. (Erica), Courtin, E. (Emilie), Bobak, M. (Martin), Chaix, B. (Basile), Costa, G. (Giuseppe), Dapp, U. (Ulrike), Diez Roux, A.V. (Ana V.), Huisman, M. (Martijn), Grundy, E. (Emily), Krokstad, S. (Steinar), Martikainen, P. (Pekka), Raina, P. (Parminder), Avendano, M. (Mauricio), Lenthe, F.J. (Frank) van, Beenackers, M.A. (Marielle), Doiron, D. (Dany), Fortier, I. (Isabel), Noordzij, J.M. (J. Mark), Reinhard, E. (Erica), Courtin, E. (Emilie), Bobak, M. (Martin), Chaix, B. (Basile), Costa, G. (Giuseppe), Dapp, U. (Ulrike), Diez Roux, A.V. (Ana V.), Huisman, M. (Martijn), Grundy, E. (Emily), Krokstad, S. (Steinar), Martikainen, P. (Pekka), Raina, P. (Parminder), Avendano, M. (Mauricio), and Lenthe, F.J. (Frank) van

Abstract

Background: Urbanization and ageing have important implications for public mental health and well-being. Cities pose major challenges for older citizens, but also offer opportunities to develop, test, and implement policies, services, infrastructure, and interventions that promote mental well-being. The MINDMAP project aims to identify the opportunities and challenges posed by urban environmental characteristics for the promotion and management of ment

Published
2018
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6. Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M. (Michael), Ransohoff, D.F. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Duijn, C.M. (Cornelia) van, Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M. (Michael), Ransohoff, D.F. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Duijn, C.M. (Cornelia) van, Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Published
2011

7. Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan M.), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M.J. (Michael), Ransohoff, D. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan M.), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M.J. (Michael), Ransohoff, D. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but they vary widely in completeness of reporting and apparent quality. Transparent reporting of the strengths and weaknesses of these studies is important to facilitate the accumulation of evidence on genetic risk prediction. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by previous reporting guidelines. These recommendations aim to enhance the transparency, quality and comple

Published
2011
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8. STrengthening the REporting of Genetic Association studies (STREGA) - An extension of the STROBE statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y. (Guang Yong), Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y. (Guang Yong), Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct or analysis.

Published
2009
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9. STrengthening the REporting of genetic association studies (STREGA)-an extension of the strobe statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Summary Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic assoc

Published
2009
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10. STrengthening the REporting of genetic association studies (STREGA)- An extension of the STROBE statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.

Published
2009
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11. Strengthening the reporting of genetic association studies (STREGA): An extension of the STROBE statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.

Published
2009
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12. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia

Author

Chumakov, I. (Ilya), Blumenfeld, M. (Marta), Guerassimenko, O. (Oxana), Cavarec, L. (Laurent), Palicio, M. (Marta), Abderrahim, H. (Hadi), Bougueleret, L. (Lydie), Barry, C. (Caroline), Tanaka, H. (Hiroaki), Rosa, P. (Philippe) La, Puech, A. (Anne), Tahri, N. (Nadia), Cohen-Akenine, A. (Annick), Delabrosse, S. (Sylvain), Lissarrague, S. (Sébastien), Picard, F.P., Maurice, K. (Karelle), Essioux, L. (Laurent), Millasseau, P. (Philippe), Grel, P. (Pascale), Debailleul, V. (Virginie), Simon, A-M. (Anne-Marie), Caterina, D. (Dominique), Dufaure, I. (Isabelle), Malekzadeh, K. (Kattayoun), Belova, M. (Maria), Luan, J.J., Bouillot, M. (Michel), Sambucy, J.L., Primas, G. (Gwenael), Saumier, M. (Martial), Boubkiri, N. (Nadia), Martin-Saumier, S. (Sandrine), Nasroune, M. (Myriam), Peixoto, H. (Hélène), Delaye, A. (Arnaud), Pinchot, V. (Virginie), Bastucci, M. (Mariam), Guillou, S. (Sophie), Chevillon, M. (Magali), Sainz-Fuertes, R. (Ricardo), Meguenni, S. (Said), Aurich-Costa, J. (Joan), Cherif, D. (Dorra), Gimalac, A. (Anne), Duijn, C.M. (Cornelia) van, Gauvreau, D. (Denis), Ouelette, G., Fortier, I. (Isabel), Realson, J., Sherbatich, T. (Tatiana), Riazanskaia, N. (Nadejda), Rogaev, E. (Evgeny), Raeymaekers, P. (Peter), Aerssens, J. (Jeroen), Konings, F. (Frank), Luyten, W. (Walter), Macciardi, F. (Fabio), Sham, P.C. (Pak), Straub, R.E. (Richard), Weinberger, D.R. (Daniel), Cohen, N. (Nadine), Cohen, D. (Daniel), Chumakov, I. (Ilya), Blumenfeld, M. (Marta), Guerassimenko, O. (Oxana), Cavarec, L. (Laurent), Palicio, M. (Marta), Abderrahim, H. (Hadi), Bougueleret, L. (Lydie), Barry, C. (Caroline), Tanaka, H. (Hiroaki), Rosa, P. (Philippe) La, Puech, A. (Anne), Tahri, N. (Nadia), Cohen-Akenine, A. (Annick), Delabrosse, S. (Sylvain), Lissarrague, S. (Sébastien), Picard, F.P., Maurice, K. (Karelle), Essioux, L. (Laurent), Millasseau, P. (Philippe), Grel, P. (Pascale), Debailleul, V. (Virginie), Simon, A-M. (Anne-Marie), Caterina, D. (Dominique), Dufaure, I. (Isabelle), Malekzadeh, K. (Kattayoun), Belova, M. (Maria), Luan, J.J., Bouillot, M. (Michel), Sambucy, J.L., Primas, G. (Gwenael), Saumier, M. (Martial), Boubkiri, N. (Nadia), Martin-Saumier, S. (Sandrine), Nasroune, M. (Myriam), Peixoto, H. (Hélène), Delaye, A. (Arnaud), Pinchot, V. (Virginie), Bastucci, M. (Mariam), Guillou, S. (Sophie), Chevillon, M. (Magali), Sainz-Fuertes, R. (Ricardo), Meguenni, S. (Said), Aurich-Costa, J. (Joan), Cherif, D. (Dorra), Gimalac, A. (Anne), Duijn, C.M. (Cornelia) van, Gauvreau, D. (Denis), Ouelette, G., Fortier, I. (Isabel), Realson, J., Sherbatich, T. (Tatiana), Riazanskaia, N. (Nadejda), Rogaev, E. (Evgeny), Raeymaekers, P. (Peter), Aerssens, J. (Jeroen), Konings, F. (Frank), Luyten, W. (Walter), Macciardi, F. (Fabio), Sham, P.C. (Pak), Straub, R.E. (Richard), Weinberger, D.R. (Daniel), Cohen, N. (Nadine), and Cohen, D. (Daniel)

Abstract

A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia. DNA from 213 schizophrenic patients and 241 normal individuals from Canada were genotyped with this marker set. Two 1,400- and 65-kb regions contained markers associated with the disease. Two markers from the 65-kb region were also found to be associated to schizophrenia in a Russian sample. Two overlapping genes G72 and G30 transcribed in brain were experimentally annotated in this 65-kb region. Transfection experiments point to the existence of a 153-aa protein coded by the G72 gene. This protein is rapidly evolving in primates, is localized to endoplasmic reticulum/Golgi in transfected cells, is able to form multimers and specifically binds to carbohydrates. Yeast two-hybrid experiments with the G72 protein identified the enzyme d-amino acid oxidase (DAAO) as an interacting partner. DAAO is expressed in human brain where it oxidizes d-serine, a potent activator of N-methyl-D-aspartate type glutamate receptor. The interaction between G72 and DAAO was confirmed in vitro and resulted in activation of DAAO. Four SNP markers from DAAO were found to be associated with schizophrenia in the Canadian samples. Logistic regression revealed genetic interaction between associated SNPs in vicinity of two genes. The association of both DAAO and a new gene G72 from 13q34 with schizophrenia together with activation of DAAO activity by a G72 protein product points to the involvement of this N-methyl-d-aspartate receptor regulation pathway in schizophrenia.

Published
2002
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