Genome‐wide association study of neocortical Lewy‐related pathology

Autor:	Carol Brayne, Tuomo Polvikoski, Mike A. Nalls, Veli-Matti Isoviita, John Hardy, Paul G. Ince, Minna Oinas, Raimo Sulkava, Terhi Peuralinna, Julia Zaccai, Hannah A.D. Keage, Andrew B. Singleton, Miko Valori, Anders Paetau, Liisa Myllykangas, Bryan J. Traynor, Pentti J. Tienari
Přispěvatelé:	Peuralinna, T, Myllykangas, L, Oinas, M, Nalls, MA, Keage, HA, Isoviita, VM, Valori, M, Polvikoski, T, Paetau, A, Sulkava, R, Ince, PG, Zaccai, J, Brayne, C, Traynor, BJ, Hardy, J, Singleton, AB, Tienari, PJ, Research Programs Unit, Research Programme for Molecular Neurology, Neurologian yksikkö, Clinicum, Medicum, Liisa Tellervo Myllykangas / Principal Investigator, Department of Pathology, Neurokirurgian yksikkö, Genome-Scale Biology (GSB) Research Program, Pentti Tienari / Principal Investigator
Rok vydání:	2015
Předmět:	Pathology medicine.medical_specialty LRP education Population Genome-wide association study Locus (genetics) Lewy-related pathology Hippocampal formation elderly 3124 Neurology and psychiatry Medicine genome Gene Research Articles Vacuolar protein sorting education.field_of_study business.industry Dementia with Lewy bodies General Neuroscience Haplotype medicine.disease aged genotyping Neurology (clinical) business dementia
Zdroj:	Annals of Clinical and Translational Neurology
ISSN:	2328-9503
DOI:	10.1002/acn3.231
Popis:	Objective Dementia with Lewy bodies is an α-synucleinopathy characterized by neocortical Lewy-related pathology (LRP). We carried out a genome-wide association study (GWAS) on neocortical LRP in a population-based sample of subjects aged 85 or over. Methods LRP was analyzed in 304 subjects in the Vantaa 85+ sample from Southern Finland. The GWAS included 41 cases with midbrain, hippocampal, and neocortical LRP and 177 controls without midbrain and hippocampal LRP. The Medical Research Council Cognitive Function and Ageing Study (CFAS) material was used for replication (51 cases and 131 controls). Results By analyzing 327,010 markers the top signal was obtained at the HLA-DPA1/DPB1 locus (P = 1.29 × 10−7); five other loci on chromosomes 15q14, 2p21, 2q31, 18p11, and 5q23 were associated with neocortical LRP at P
Databáze:	OpenAIRE
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