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1. Investigating the genetic variation underlying episodicity in major depressive disorder: Suggestive evidence for a bipolar contribution

Author

Ferentinos, Panagiotis, Rivera, Margarita, Ising, Marcus, Spain, Sarah L., Cohen-Woods, Sarah, Butler, Amy W., Craddock, Nicholas, Owen, Michael J., Korszun, Ania, Jones, Lisa, Jones, Ian, Gill, Michael, Rice, John P., Maier, Wolfgang, Mors, Ole, Rietschel, Marcella, Lucae, Susanne, Binder, Elisabeth B., Preisig, Martin, Tozzi, Federica, Muglia, Pierandrea, Breen, Gerome, Craig, Ian W., Farmer, Anne E., Müller-Myhsok, Bertram, McGuffin, Peter, and Lewis, Cathryn M.

Published
2014
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2. Integrating Phenotypic Data For Depression

Author

Butler Amy W., Cohen-Woods Sarah, Farmer Anne, McGuffin Peter, and Lewis Cathryn M.

Subjects
Biotechnology, TP248.13-248.65
Abstract

The golden era of molecular genetic research brings about an explosion of phenotypic, genotypic and sequencing data. Building on the common aims to exploit understanding of human diseases, it also opens up an opportunity for scientific communities to share and combine research data. Genome-wide association studies (GWAS) have been widely used to locate genetic variants, which are susceptible for common diseases. In the field of medical genetics, many international collaborative consortiums have been established to conduct meta-analyses of GWAS results and to combine large genotypic data sets to perform mega genetic analyses. Having an integrated phenotype database is significant for exploiting the full potential of extensive genotypic data. In this paper, we aim to share our experience gained from integrating four heterogeneous sets of major depression phenotypic data onto the MySQL platform. These data sets constitute clinical data which had been gathered for various genetic studies for the past decade. We also highlight in this report some generic data handling techniques, the costs and benefits regarding the use of integrated phenotype database within our own institution and under the consortium framework.

Published
2010
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3. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Author

Shatunov, Aleksey, Mok, Kin, Newhouse, Stephen, Weale, Michael E, Smith, Bradley, Vance, Caroline, Johnson, Lauren, Veldink, Jan H, van Es, Michael A, van den Berg, Leonard H, Robberecht, Wim, Van Damme, Philip, Hardiman, Orla, Farmer, Anne E, Lewis, Cathryn M, Butler, Amy W, Abel, Olubunmi, Andersen, Peter M, Fogh, Isabella, Silani, Vincenzo, Chiò, Adriano, Traynor, Bryan J, Melki, Judith, Meininger, Vincent, Landers, John E, McGuffin, Peter, Glass, Jonathan D, Pall, Hardev, Leigh, P Nigel, Hardy, John, Brown, Robert H, Jr, Powell, John F, Orrell, Richard W, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, and Al-Chalabi, Ammar

Published
2010
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5. Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese

Author

Wong, Emily H.M., So, Hon-Cheong, Li, Miaoxin, Wang, Quang, Butler, Amy W., Paul, Basil, Wu, Hei-Man, Hui, Tomy C.K., Choi, Siu-Chung, So, Man-Ting, Garcia-Barcelo, Maria-Mercè, McAlonan, Grainne M., Chen, Eric Y.H., Cheung, Eric F.C., Chan, Raymond C.K., Purcell, Shaun M., Cherny, Stacey S., Chen, Ronald R.L., Li, Tao, and Sham, Pak-Chung

Published
2014
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6. Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: A genome-wide association and polygenic scoring study

Author

Mullins, Niamh, Perroud, Nader, Uher, Rudolf, Butler, Amy W., Cohen-Woods, Sarah, Rivera, Margarita, Malki, Karim, Euesden, Jack, Power, Robert A., Tansey, Katherine E., Jones, Lisa, Jones, Ian, Craddock, Nick, Owen, Michael J., Korszun, Ania, Gill, Michael, Mors, Ole, Preisig, Martin, Maier, Wolfgang, Rietschel, Marcella, Rice, John P., Müller-Myhsok, Bertram, Binder, Elisabeth B., Lucae, Susanne, Ising, Marcus, Craig, Ian W., Farmer, Anne E., McGuffin, Peter, Breen, Gerome, and Lewis, Cathryn M.

Published
2014
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7. Genome-wide association analysis accounting for environmental factors through propensity-score matching: Application to stressful live events in major depressive disorder

Author

Power, Robert A., Cohen-Woods, Sarah, Ng, Mandy Y., Butler, Amy W., Craddock, Nick, Korszun, Ania, Jones, Lisa, Jones, Ian, Gill, Michael, Rice, John P., Maier, Wolfgang, Zobel, Astrid, Mors, Ole, Placentino, Anna, Rietschel, Marcella, Aitchison, Katherine J., Tozzi, Federica, Muglia, Pierandrea, Breen, Gerome, Farmer, Anne E., McGuffin, Peter, Lewis, Cathryn M., and Uher, Rudolf

Published
2013
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8. Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing

Author

Tse, Hung-Fat, Ho, Jenny C. Y., Choi, Shing-Wan, Lee, Yee-Ki, Butler, Amy W., Ng, Kwong-Man, Siu, Chung-Wah, Simpson, Michael A., Lai, Wing-Hon, Chan, Yau-Chi, Au, Ka-Wing, Zhang, Jinqiu, Lay, Kenneth W. J., Esteban, Miguel A., Nicholls, John M., Colman, Alan, and Sham, Pak C.

Published
2013
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9. Dissecting the Genetic Heterogeneity of Depression Through Age at Onset

Author

Power, Robert A., Keers, Robert, Ng, Mandy Y., Butler, Amy W., Uher, Rudolf, Cohen-Woods, Sarah, Ising, Marcus, Craddock, Nick, Owen, Michael J., Korszun, Ania, Jones, Lisa, Jones, Ian, Gill, Michael, Rice, John P., Hauser, Joanna, Henigsberg, Neven, Maier, Wolfgang, Zobel, Astrid, Mors, Ole, Placentino, Anna S., Rietschel, Marcella, Souery, Daniel, Kozel, Dejan, Preisig, Martin, Lucae, Susanne, Binder, Elisabeth B., Aitchison, Katherine J., Tozzi, Federica, Muglia, Pierandrea, Breen, Gerome, Craig, Ian W., Farmer, Anne E., Müller-Myhsok, Bertram, McGuffin, Peter, and Lewis, Cathryn M.

Published
2012
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11. Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor

Author

Ng, Kwong-Man, primary, Mok, Pamela Y., additional, Butler, Amy W., additional, Ho, Jenny C.Y., additional, Choi, Shing-Wan, additional, Lee, Yee-Ki, additional, Lai, Wing-Hon, additional, Au, Ka-Wing, additional, Lau, Yee-Man, additional, Wong, Lai-Yung, additional, Esteban, Miguel A., additional, Siu, Chung-Wah, additional, Sham, Pak C., additional, Colman, Alan, additional, and Tse, Hung-Fat, additional

Published
2016
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12. Genome-wide association study of co-occurring anxiety in major depression

Author

Schosser, Alexandra, primary, Butler, Amy W., additional, Uher, Rudolf, additional, Ng, Mandy Y., additional, Cohen-Woods, Sarah, additional, Craddock, Nick, additional, Owen, Mike J., additional, Korszun, Ania, additional, Gill, Michael, additional, Rice, John, additional, Hauser, Joanna, additional, Henigsberg, Neven, additional, Maier, Wolfgang, additional, Mors, Ole, additional, Placentino, Anna, additional, Rietschel, Marcella, additional, Souery, Daniel, additional, Preisig, Martin, additional, Craig, Ian W., additional, Farmer, Anne E., additional, Lewis, Cathryn M., additional, and McGuffin, Peter, additional

Published
2013
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13. Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese

Author

Wong, Emily H.M., primary, So, Hon-Cheong, additional, Li, Miaoxin, additional, Wang, Quang, additional, Butler, Amy W., additional, Paul, Basil, additional, Wu, Hei-Man, additional, Hui, Tomy C.K., additional, Choi, Siu-Chung, additional, So, Man-Ting, additional, Garcia-Barcelo, Maria-Mercè, additional, McAlonan, Grainne M., additional, Chen, Eric Y.H., additional, Cheung, Eric F.C., additional, Chan, Raymond C.K., additional, Purcell, Shaun M., additional, Cherny, Stacey S., additional, Chen, Ronald R.L., additional, Li, Tao, additional, and Sham, Pak-Chung, additional

Published
2013
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14. A Genome-Wide Significant Linkage for Severe Depression on Chromosome 3: The Depression Network Study

Author

Breen, Gerome, primary, Webb, Bradley Todd, additional, Butler, Amy W., additional, van den Oord, Edwin J.C.G., additional, Tozzi, Federica, additional, Craddock, Nick, additional, Gill, Mike, additional, Korszun, Ania, additional, Maier, Wolfgang, additional, Middleton, Lefkos, additional, Mors, Ole, additional, Owen, Michael J., additional, Cohen-Woods, Sarah, additional, Perry, Julia, additional, Galwey, Nicholas W., additional, Upmanyu, Ruchi, additional, Craig, Ian, additional, Lewis, Cathryn M., additional, Ng, Mandy, additional, Brewster, Shyama, additional, Preisig, Martin, additional, Rietschel, Marcella, additional, Jones, Lisa, additional, Knight, Jo, additional, Rice, John, additional, Muglia, Pierandrea, additional, Farmer, Anne E., additional, and McGuffin, Peter, additional

Published
2011
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15. Genomewide Association Scan of Suicidal Thoughts and Behaviour in Major Depression

Author

Schosser, Alexandra, primary, Butler, Amy W., additional, Ising, Marcus, additional, Perroud, Nader, additional, Uher, Rudolf, additional, Ng, Mandy Y., additional, Cohen-Woods, Sarah, additional, Craddock, Nick, additional, Owen, Michael J., additional, Korszun, Ania, additional, Jones, Lisa, additional, Jones, Ian, additional, Gill, Michael, additional, Rice, John P., additional, Maier, Wolfgang, additional, Mors, Ole, additional, Rietschel, Marcella, additional, Lucae, Susanne, additional, Binder, Elisabeth B., additional, Preisig, Martin, additional, Perry, Julia, additional, Tozzi, Federica, additional, Muglia, Pierandrea, additional, Aitchison, Katherine J., additional, Breen, Gerome, additional, Craig, Ian W., additional, Farmer, Anne E., additional, Müller-Myhsok, Bertram, additional, McGuffin, Peter, additional, and Lewis, Cathryn M., additional

Published
2011
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16. A genomewide linkage study on suicidality in major depressive disorder confirms evidence for linkage to 2p12

Author

Butler, Amy W., primary, Breen, Gerome, additional, Tozzi, Federica, additional, Craddock, Nick, additional, Gill, Mike, additional, Korszun, Ania, additional, Maier, Wolfgang, additional, Middleton, Lefkos T., additional, Mors, Ole, additional, Owen, Michael J., additional, Perry, Julia, additional, Preisig, Martin, additional, Rice, John P., additional, Rietschel, Marcella, additional, Jones, Lisa, additional, Farmer, Anne E., additional, Lewis, Cathryn M., additional, and McGuffin, Peter, additional

Published
2010
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17. Genome-Wide Association Study of Major Recurrent Depression in the U.K. Population

Author

Lewis, Cathryn M., primary, Ng, Mandy Y., additional, Butler, Amy W., additional, Cohen-Woods, Sarah, additional, Uher, Rudolf, additional, Pirlo, Katrina, additional, Weale, Michael E., additional, Schosser, Alexandra, additional, Paredes, Ursula M., additional, Rivera, Margarita, additional, Craddock, Nicholas, additional, Owen, Mike J., additional, Jones, Lisa, additional, Jones, Ian, additional, Korszun, Ania, additional, Aitchison, Katherine J., additional, Shi, Jianxin, additional, Quinn, John P., additional, MacKenzie, Alasdair, additional, Vollenweider, Peter, additional, Waeber, Gerard, additional, Heath, Simon, additional, Lathrop, Mark, additional, Muglia, Pierandrea, additional, Barnes, Michael R., additional, Whittaker, John C., additional, Tozzi, Federica, additional, Holsboer, Florian, additional, Preisig, Martin, additional, Farmer, Anne E., additional, Breen, Gerome, additional, Craig, Ian W., additional, and McGuffin, Peter, additional

Published
2010
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18. Genome-Wide Pharmacogenetics of Antidepressant Response in the GENDEP Project

Author

Uher, Rudolf, primary, Perroud, Nader, additional, Ng, Mandy Y.M., additional, Hauser, Joanna, additional, Henigsberg, Neven, additional, Maier, Wolfgang, additional, Mors, Ole, additional, Placentino, Anna, additional, Rietschel, Marcella, additional, Souery, Daniel, additional, Žagar, Tina, additional, Czerski, Piotr M., additional, Jerman, Borut, additional, Larsen, Erik Roj, additional, Schulze, Thomas G., additional, Zobel, Astrid, additional, Cohen-Woods, Sarah, additional, Pirlo, Katrina, additional, Butler, Amy W., additional, Muglia, Pierandrea, additional, Barnes, Michael R., additional, Lathrop<, Mark, additional, Farmer, Anne, additional, Breen, Gerome, additional, Aitchison, Katherine J., additional, Craig, Ian, additional, Lewis, Cathryn M., additional, and McGuffin, Peter, additional

Published
2010
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19. Patient-specific induced-pluripotent stem cells derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.

Author

Tse, Hung-Fat, Ho, Jenny C. Y., Choi, Shing-Wan, Butler, Amy W., Ng, Kwong-Man, Siu, Chung-Wah, Simpson, Michael A., Lai, Wing-Hon, Chan, Yau-Chi, Au, Ka-Wing, Zhang, Jinqiu, Lay, Kenneth W. J., Esteban, Miguel A., Nicholls, John M., Alan, Colman, and Sham, Pak C.

Published
2014
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20. Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens

Author

Daoud, Hussein, Belzil, Véronique, Dion, Patrick A, Rouleau, Guy A, Shatunov, Aleksey, Mok, Kin, Newhouse, Stephen, Weale, Michael E, Smith, Bradley, Vance, Caroline, Johnson, Lauren, Veldink, Jan H, van Es, Michael A, van den Berg, Leonard H, Robberecht, Wim, Van Damme, Philip, Hardiman, Orla, Farmer, Anne E, Lewis, Cathryn M, and Butler, Amy W

Subjects
*AMYOTROPHIC lateral sclerosis, *CHROMOSOMES, *COMPARATIVE studies, *GENETIC polymorphisms, *INTERNATIONAL relations, *LONGITUDINAL method, *RESEARCH methodology, *MEDICAL cooperation, *RESEARCH, *RESEARCH funding, *EVALUATION research, *CASE-control method, *FRONTOTEMPORAL dementia, *SEQUENCE analysis
Abstract

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons that results in progressive weakness and death from respiratory failure, commonly within about 3 years. Previous studies have shown association of a locus on chromosome 9p with ALS and linkage with ALS-frontotemporal dementia. We aimed to test whether this genomic region is also associated with ALS in an independent set of UK samples, and to identify risk factors associated with ALS in a further genome-wide association study that combined data from the independent analysis with those from other countries.Methods: We collected samples from patients with sporadic ALS from 20 UK hospitals and obtained UK control samples from the control groups of the Depression Case Control study, the Bipolar Affective Case Control Study, and the British 1958 birth cohort DNA collection. Genotyping of DNA in this independent analysis was done with Illumina HumanHap550 BeadChips. We then undertook a joint genome-wide analysis that combined data from the independent set with published data from the UK, USA, Netherlands, Ireland, Italy, France, Sweden, and Belgium. The threshold for significance was p=0·05 in the independent analysis, because we were interested in replicating a small number of previously reported associations, whereas the Bonferroni-corrected threshold for significance in the joint analysis was p=2·20×10(-7)Findings: After quality control, samples were available from 599 patients and 4144 control individuals in the independent set. In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9p21.2 were associated with ALS: rs3849942 (p=2·22×10(-6); odds ratio [OR] 1·39, 95% CI 1·21-1·59) and rs2814707 (p=3·32×10(-6); 1·38, 1·20-1·58). In the joint analysis, which included samples from 4312 patients with ALS and 8425 control individuals, rs3849942 (p=4·64×10(-10); OR 1·22, 95% CI 1·15-1·30) and rs2814707 (p=4·72×10(-10); 1·22, 1·15-1·30) were associated with ALS.Interpretation: We have found strong evidence of a genetic association of two single nucleotide polymorphisms on chromosome 9 with sporadic ALS, in line with findings from previous independent GWAS of ALS and linkage studies of ALS-frontotemporal dementia. Our findings together with these earlier findings suggest that genetic variation at this locus on chromosome 9 causes sporadic ALS and familial ALS-frontotemporal dementia. Resequencing studies and then functional analysis should be done to identify the defective gene. [ABSTRACT FROM AUTHOR]

Published
2010
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