The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer’s disease: a meta-analysis study

Jean-Charles Lambert; Kristel Sleegers; Antonio González-Pérez; Martin Ingelsson; Gary W Beecham; Mikko Hiltunen; Onofre Combarros; Maria J Bullido; Nathalie Brouwers; Karolien Bettens; Claudine Berr; Florence Pasquier; Florence Richard; Steven T DeKosky; Didier Hannequin; Jonathan L Haines; Gloria Tognoni; Nathalie Fiévet; Jean-François Dartigues; Christophe Tzourio; Sebastiaan Engelborghs; Beatrice Arosio; Elicer Coto; Peter De Deyn; Maria Del Zompo; Ignacio Mateo; Merce Boada; Carmen Antunez; Jesus Lopez-Arrieta; Jacques Epelbaum; Brit-Maren Michaud Schjeide; Ana Frank-Garcia; Vilmentas Giedraitis; Seppo Helisalmi; Elisa Porcellini; Alberto Pilotto; Paola Forti; Raffaele Ferri; Marc Delepine; Diana Zelenika; Mark Lathrop; Elio Scarpini; Gabriele Siciliano; Vincenzo Solfrizzi; Sandro Sorbi; Gianfranco Spalletta; Giovanni Ravaglia; Fernando Valdivieso; Saila Vepsäläinen; Victoria Alvarez; Paolo Bosco; Michelangelo Mancuso; Francesco Panza; Benedetta Nacmias; Paola Bossù; Olivier Hanon; Paola Piccardi; Giorgio Annoni; David Mann; Philippe Marambaud; Davide Seripa; Daniela Galimberti; Rudolph E Tanzi; Lars Bertram; Corinne Lendon; Lars Lannfelt; Federico Licastro; Dominique Campion; Margaret A Pericak-Vance; Hilkka Soininen; Christine Van Broeckhoven; Annick Alpérovitch; Agustin Ruiz; M Ilyas Kamboh; Philippe Amouyel

doi:10.3233/JAD-2010-100933

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The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer’s disease: a meta-analysis study

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The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer’s disease: a meta-analysis study

Jean-Charles Lambert, Kristel Sleegers, Antonio González-Pérez, Martin Ingelsson, Gary W Beecham, Mikko Hiltunen, Onofre Combarros, Maria J Bullido, Nathalie Brouwers, Karolien Bettens, …

Journal of Alzheimer's disease, Vol.22(1), pp.247-255

2010-01-01

DOI: https://doi.org/10.3233/JAD-2010-100933

PMCID: PMC2964875

PMID: 20847397

Abstract

The only established genetic determinant of non-Mendelian forms of Alzheimer’s disease (AD) is the ε4 allele of the apolipoprotein E gene ( APOE ). Recently, it has been reported that the P86L polymorphism of the calcium homeostasis modulator 1 gene ( CALHM1 ) is associated with the risk of developing AD. In order to independently assess this association, we performed a meta-analysis of 7,873 AD cases and 13,274 controls of Caucasian origin (from a total of 24 centres in Belgium, Finland, France, Italy, Spain, Sweden, the UK and the USA). Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age at onset by interacting with the effect of the ε4 allele of the APOE gene.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.57 Alzheimer's Disease
Web Of Science research areas: Neurosciences
ESI research areas: Neuroscience & Behavior

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Title: The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer’s disease: a meta-analysis study
Creators: Jean-Charles Lambert - INSERM U744, F-59019 Lille, France
Kristel Sleegers - Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium
Antonio González-Pérez - Department of Structural Genomics. Neocodex, Sevilla, Spain
Martin Ingelsson - Uppsala University, Stockholm, Sweden
Gary W Beecham - John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, USA
Mikko Hiltunen - Department of Neurology, Kuopio University and University Hospital, 70211, Kuopio, Finland
Onofre Combarros - Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Santander, Spain
Maria J Bullido - Centro de Biologia Molecular Severo Ochoa (UAM-CSIC) and CIBERNED, Universidad Autonoma, Cantoblanco, S-28049, Madrid, Spain
Nathalie Brouwers - Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium
Karolien Bettens - Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium
Claudine Berr - INSERM U888, Hôpital La Colombière, F-34093 Montpellier, France
Florence Pasquier - Université de Lille Nord de France, F-59000 Lille, France
Florence Richard - INSERM U744, F-59019 Lille, France
Steven T DeKosky - University of Virginia School of medicine, Charlottesville, VA, USA
Didier Hannequin - INSERM U614, Faculté de Médecine-Pharmacie de Rouen, F-76183, Rouen, France
Jonathan L Haines - Vanderbilt Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, USA
Gloria Tognoni - Department of Neuroscience, Neurological Clinic, University of Pisa, I-56100, Italy
Nathalie Fiévet - INSERM U744, F-59019 Lille, France
Jean-François Dartigues - INSERM U897, Victor Segalen University, F-33076, Bordeaux, France
Christophe Tzourio - INSERM U708, F-75013 Paris, France
Sebastiaan Engelborghs - Institute Born-Bunge and University of Antwerp, Antwerp, Belgium
Beatrice Arosio - Department of Internal Medicine, Fondazione Policlinico IRCCS, Milan Italy
Elicer Coto - Genetic Molecular Unit, Hospital Universitario Central de Asturias, 33006-Oviedo, Spain
Peter De Deyn - Institute Born-Bunge and University of Antwerp, Antwerp, Belgium
Maria Del Zompo - Section of Clinical Pharmacology, Department of Neuroscience, University of Cagliari, Italy
Ignacio Mateo - Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Santander, Spain
Merce Boada - Memory Clinic of Fundació ACE. Institut Català de Neurociències Aplicades, Barcelona, Spain
Carmen Antunez - Alzheimur Foundation, Murcia, Spain
Jesus Lopez-Arrieta - Memory Unit. University Hospital La Paz- Cantoblanco, Madrid, Spain
Jacques Epelbaum - UMR 894, INSERM Faculté de Médecine, Université Paris Descartes, F-75014 Paris, France
Brit-Maren Michaud Schjeide - Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max-Planck Institute for Molecular Genetics, Berlin, Germany
Ana Frank-Garcia - Servicio de Neurologia, Hospital Universitario La Paz (UAM) and CIBERNED, 28034 Madrid, Spain
Vilmentas Giedraitis - Uppsala University, Stockholm, Sweden
Seppo Helisalmi - Department of Neurology, Kuopio University and University Hospital, 70211, Kuopio, Finland
Elisa Porcellini - Department of Experimental Pathology, School of Medicine, University of Bologna, Italy
Alberto Pilotto - Geriatric Unit & Gerontology-Geriatric Research Laboratory, Department of Medical Science, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo , I-71013, Italy
Paola Forti - Department of Internal Medicine Cardiology and Hepatology, University Hospital S. Orsola-Malpighi, Bologna, Italy
Raffaele Ferri - IRCCS Oasi Maria SS, 94018 Troina , Italy
Marc Delepine - Centre National de Genotypage, Institut Genomique, Commissariat à l’Énergie Atomique, Evry, France
Diana Zelenika - Centre National de Genotypage, Institut Genomique, Commissariat à l’Énergie Atomique, Evry, France
Mark Lathrop - Centre National de Genotypage, Institut Genomique, Commissariat à l’Énergie Atomique, Evry, France
Elio Scarpini - Dept. of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
Gabriele Siciliano - Department of Geriatrics, Centre for Aging Brain, Memory Unit, University of Bari, Policlinico, 70124 Bari, Italy
Vincenzo Solfrizzi - Department of Neurological and Psychiatric Sciences, 50134 Florence, Italy
Sandro Sorbi - Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, 00179 Roma – Italy
Gianfranco Spalletta - Department of Clinical Medicine and Prevention, University of Milano-Bicocca, Monza Italy
Giovanni Ravaglia - Department of Internal Medicine Cardiology and Hepatology, University Hospital S. Orsola-Malpighi, Bologna, Italy
Fernando Valdivieso - Centro de Biologia Molecular Severo Ochoa (UAM-CSIC) and CIBERNED, Universidad Autonoma, Cantoblanco, S-28049, Madrid, Spain
Saila Vepsäläinen - Department of Neurology, Kuopio University and University Hospital, 70211, Kuopio, Finland
Victoria Alvarez - Genetic Molecular Unit, Hospital Universitario Central de Asturias, 33006-Oviedo, Spain
Paolo Bosco - IRCCS Oasi Maria SS, 94018 Troina , Italy
Michelangelo Mancuso - Department of Neuroscience, Neurological Clinic, University of Pisa, I-56100, Italy
Francesco Panza - Department of Geriatrics, Centre for Aging Brain, Memory Unit, University of Bari, Policlinico, 70124 Bari, Italy
Benedetta Nacmias - Department of Neurological and Psychiatric Sciences, 50134 Florence, Italy
Paola Bossù - Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, 00179 Roma – Italy
Olivier Hanon - UMR 894, INSERM Faculté de Médecine, Université Paris Descartes, F-75014 Paris, France
Paola Piccardi - Section of Clinical Pharmacology, Department of Neuroscience, University of Cagliari, Italy
Giorgio Annoni - Department of Clinical Medicine and Prevention, University of Milano-Bicocca, Monza Italy
David Mann - Greater Manchester Neuroscience Centre, University of Manchester, Manchester, UK
Philippe Marambaud - Litwin-Zucker Research Center for the Study of Alzheimer's Disease, Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA
Davide Seripa - Geriatric Unit & Gerontology-Geriatric Research Laboratory, Department of Medical Science, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo , I-71013, Italy
Daniela Galimberti - Dept. of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
Rudolph E Tanzi - Genetics and Aging Research Unit, Massachusetts General Hospital, Charlestown, MA 02129
Lars Bertram - Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max-Planck Institute for Molecular Genetics, Berlin, Germany
Corinne Lendon - Molecular Psychiatry Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland 4029, Australia
Lars Lannfelt - Uppsala University, Stockholm, Sweden
Federico Licastro - Department of Experimental Pathology, School of Medicine, University of Bologna, Italy
Dominique Campion - INSERM U614, Faculté de Médecine-Pharmacie de Rouen, F-76183, Rouen, France
Margaret A Pericak-Vance - John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, USA
Hilkka Soininen - Department of Neurology, Kuopio University and University Hospital, 70211, Kuopio, Finland
Christine Van Broeckhoven - Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium
Annick Alpérovitch - INSERM U708, F-75013 Paris, France
Agustin Ruiz - Department of Structural Genomics. Neocodex, Sevilla, Spain
M Ilyas Kamboh - Department of Human Genetics and Alzheimer's Disease Research Centre, University of Pittsburgh, USA
Philippe Amouyel - INSERM U744, F-59019 Lille, France
Publication Details: Journal of Alzheimer's disease, Vol.22(1), pp.247-255
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 20847397
PMCID: PMC2964875
Record Identifier: 991031561407702976