Variant of TREM 2 Associated with the Risk of Alzheimer ’ s Disease

Thorlakur Jonsson, Ph.D., Hreinn Stefansson, Ph.D., Stacy Steinberg Ph.D., Ingileif Jonsdottir, Ph.D., Palmi V. Jonsson, M.D., Jon Snaedal, M.D., Sigurbjorn Bjornsson, M.D., Johanna Huttenlocher, B.S., Allan I. Levey, M.D., Ph.D., James J. Lah, M.D., Ph.D., Dan Rujescu, M.D., Harald Hampel, M.D., Ina Giegling, Ph.D., Ole A. Andreassen, M.D., Ph.D., Knut Engedal, M.D., Ph.D., Ingun Ulstein, M.D., Ph.D., Srdjan Djurovic, Ph.D., Carla Ibrahim-Verbaas, M.D., Albert Hofman, M.D., Ph.D., M. Arfan Ikram, M.D., Ph.D., Cornelia M van Duijn, Ph.D., Unnur Thorsteinsdottir, Ph.D., Augustine Kong, Ph.D., and Kari Stefansson, M.D., Ph.D.

[1]  Ole A. Andreassen,et al.  A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline , 2012, Nature.

[2]  M. Pericak-Vance,et al.  Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[3]  Kari Stefansson,et al.  A germline variant in the TP53 polyadenylation signal confers cancer susceptibility , 2011, Nature Genetics.

[4]  E. Chouery,et al.  Mutations in TREM2 lead to pure early‐onset dementia without bone cysts , 2008, Human mutation.

[5]  Christoph Lange,et al.  Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. , 2008, American journal of human genetics.

[6]  M. Colonna,et al.  Cutting Edge: Inflammatory Responses Can Be Triggered by TREM-1, a Novel Receptor Expressed on Neutrophils and Monocytes1 , 2000, The Journal of Immunology.

[7]  R. Castellani,et al.  Alzheimer disease. , 2010, Disease-a-month : DM.

[8]  Marc Cruts,et al.  Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases , 2012, Human mutation.

[9]  M. Colonna,et al.  A Dap12-Mediated Pathway Regulates Expression of Cc Chemokine Receptor 7 and Maturation of Human Dendritic Cells , 2001, The Journal of experimental medicine.

[10]  S. Styren,et al.  Expression of immune system-associated antigens by cells of the human central nervous system: Relationship to the pathology of Alzheimer's disease , 1988, Neurobiology of Aging.

[11]  Hiroaki Ito,et al.  TREM‐2, triggering receptor expressed on myeloid cell‐2, negatively regulates TLR responses in dendritic cells , 2012, European journal of immunology.

[12]  H. Stefánsson,et al.  Identification of low-frequency variants associated with gout and serum uric acid levels , 2011, Nature Genetics.

[13]  A. Gylfason,et al.  Mutations in BRIP1 confer high risk of ovarian cancer , 2011, Nature Genetics.

[14]  H. Hakola Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. , 1972, Acta psychiatrica Scandinavica. Supplementum.

[15]  M A Pericak-Vance,et al.  Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. , 1993, Neurology.

[16]  J. Prudlo,et al.  Nasu-Hakola disease (PLOSL): report of five cases and review of the literature. , 2007, Clinical orthopaedics and related research.

[17]  P. Bosco,et al.  Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease , 2009, Nature Genetics.

[18]  Arrigo Moglia,et al.  Neuropsychological tests and functional nuclear neuroimaging provide evidence of subclinical impairment in Nasu-Hakola disease heterozygotes. , 2005, Functional neurology.

[19]  K. Terayama,et al.  A LIPID METABOLIC DISEASE —“MEMBRANOUS LIPODYSTROPHY”— AN AUTOPSY CASE DEMONSTRATING NUMEROUS PECULIAR MEMBRANE‐STRUCTURES COMPOSED OF COMPOUND LIPID IN BONE AND BONE MARROW AND VARIOUS ADIPOSE TISSUES , 1973, Acta pathologica japonica.

[20]  D. Mehr,et al.  MDS Cognitive Performance Scale. , 1994, Journal of gerontology.

[21]  Nick C Fox,et al.  Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease , 2011, Nature Genetics.

[22]  H. Neumann,et al.  Dual induction of TREM2 and tolerance-related transcript, Tmem176b, in amyloid transgenic mice: implications for vaccine-based therapies for Alzheimer's disease , 2010, ASN neuro.

[23]  E. Lukhtanov,et al.  A novel endonuclease IV post-PCR genotyping system , 2006, Nucleic acids research.

[24]  M. Arfan Ikram,et al.  The Rotterdam Study: 2012 objectives and design update , 2011, European journal of epidemiology.

[25]  L. Peltonen,et al.  Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. , 2002, American journal of human genetics.

[26]  N. Ikegami,et al.  Comprehensive Clinical Assessment in Community Setting: Applicability of the MDS‐HC , 1997, Journal of the American Geriatrics Society.

[27]  A. Hofman,et al.  The Rotterdam Study: objectives and design update , 2007, European Journal of Epidemiology.

[28]  P. Eikelenboom,et al.  Role of microglia in plaque formation in senile dementia of the Alzheimer type , 1986, Virchows Archiv. B, Cell pathology including molecular pathology.

[29]  R. Veerhuis,et al.  Neuroinflammation – An Early Event in Both the History and Pathogenesis of Alzheimer’s Disease , 2010, Neurodegenerative Diseases.

[30]  A. Singleton,et al.  Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. , 2012, JAMA neurology.

[31]  C. Plata-salamán,et al.  Inflammation and Alzheimer’s disease , 2000, Neurobiology of Aging.

[32]  S. Haga,et al.  Immuno-electron-microscopic localization of complements in amyloid fibrils of senile plaques , 2004, Acta Neuropathologica.

[33]  Dan M Roden,et al.  A rare variant in MYH6 is associated with high risk of sick sinus syndrome , 2011, Nature Genetics.

[34]  A. Stromberg,et al.  Harnessing the power of gene microarrays for the study of brain aging and Alzheimer's disease: Statistical reliability and functional correlation , 2005, Ageing Research Reviews.

[35]  H. Neumann,et al.  Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells-2 , 2005, The Journal of experimental medicine.

[36]  S. Katz,et al.  Designing the national resident assessment instrument for nursing homes. , 1990, The Gerontologist.

[37]  B. Melchior,et al.  CNS immune privilege: hiding in plain sight , 2006, Immunological reviews.

[38]  R. Tanzi,et al.  The Genetics of Alzheimer Disease: Back to the Future , 2010, Neuron.

[39]  W. Griffin,et al.  Brain interleukin 1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer disease. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[40]  Leena Peltonen,et al.  Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts , 2000, Nature Genetics.

[41]  J. Meldolesi,et al.  The surface‐exposed chaperone, Hsp60, is an agonist of the microglial TREM2 receptor , 2009, Journal of neurochemistry.

[42]  Elvira Bramon,et al.  Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. , 2010, Journal of psychiatric research.

[43]  L. Lanier,et al.  Cutting Edge: Inhibition of TLR and FcR Responses in Macrophages by Triggering Receptor Expressed on Myeloid Cells (TREM)-2 and DAP121 , 2006, The Journal of Immunology.

[44]  R. Spreafico,et al.  Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia , 2004, The European journal of neuroscience.

[45]  M. Colonna TREMs in the immune system and beyond , 2003, Nature Reviews Immunology.

[46]  M. Kivipelto,et al.  Epidemiology of Alzheimer's disease: occurrence, determinants, and strategies toward intervention , 2009, Dialogues in clinical neuroscience.

[47]  M. Folstein,et al.  Clinical diagnosis of Alzheimer's disease , 1984, Neurology.

[48]  Knut Engedal,et al.  The Memory Clinic--outpatient assessment when dementia is suspected. , 2011, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.