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ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

BOADA, M ; ANTUNEZ, C ; GALAN, J. J ; BIS, J. C ; MAULEON, A ; ROSENDE-ROCA, M ; MORENO-REY, C ; GUDNASSON, V ; MORON, F. J ; VELASCO, J ; CARRASCO, J. M ; ALEGRET, M ; RAMIREZ-LORCA, R ; ESPINOSA, A ; VINYES, G ; LAFUENTE, A ; VARGAS, L ; FITZPATRICK, A. L ; LAUNER, L. J ; SAEZ, M. E ; VAZQUEZ, E ; BECKER, J. T ; LOPEZ, O. L ; DESTEFANOS, A. L ; SERRANO-RIOS, M ; TARRAGA, L ; VAN DUIJN, C. M ; REAL, L. M ; SESHADRI, S ; RUIZ, A ; GONZALEZ-PEREZ, A ; GAYAN, J ; LOPEZ-ARRIETA, J ; IKRAM, M. A ; HERNANDEZ, I ; MARIN, J

Molecular psychiatry, 2014-06, Vol.19 (6), p.682-687 [Peer Reviewed Journal]

Basingstoke: Nature Publishing Group

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Title:
ATP5H/KCTD2 locus is associated with Alzheimer's disease risk
Author: BOADA, M ; ANTUNEZ, C ; GALAN, J. J ; BIS, J. C ; MAULEON, A ; ROSENDE-ROCA, M ; MORENO-REY, C ; GUDNASSON, V ; MORON, F. J ; VELASCO, J ; CARRASCO, J. M ; ALEGRET, M ; RAMIREZ-LORCA, R ; ESPINOSA, A ; VINYES, G ; LAFUENTE, A ; VARGAS, L ; FITZPATRICK, A. L ; LAUNER, L. J ; SAEZ, M. E ; VAZQUEZ, E ; BECKER, J. T ; LOPEZ, O. L ; DESTEFANOS, A. L ; SERRANO-RIOS, M ; TARRAGA, L ; VAN DUIJN, C. M ; REAL, L. M ; SESHADRI, S ; RUIZ, A ; GONZALEZ-PEREZ, A ; GAYAN, J ; LOPEZ-ARRIETA, J ; IKRAM, M. A ; HERNANDEZ, I ; MARIN, J
Subjects: Adult and adolescent clinical studies ; Aged, 80 and over ; Alzheimer Disease - genetics ; Alzheimer's disease ; Biological and medical sciences ; Cohort Studies ; Computer Simulation ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Genetic aspects ; Genetic Loci ; Genetic Predisposition to Disease ; Genetic research ; Genetic susceptibility ; Genome-Wide Association Study ; Genotyping Techniques ; Humans ; Identification and classification ; Male ; Medical sciences ; Middle Aged ; Mitochondrial ADP, ATP Translocases - genetics ; Neurology ; Organic mental disorders. Neuropsychology ; Original ; Polymorphism, Single Nucleotide ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; Quantitative trait loci
Is Part Of: Molecular psychiatry, 2014-06, Vol.19 (6), p.682-687
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The first three authors contributed equally to this work.
Data used in preparation of this article were obtained from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database (adni.loni.ucla.edu). As such, the investigators within the ADNI contributed to the design and implementation of ADNI and/or provided data but did not participate in analysis or writing of this report. A complete listing of ADNI investigators can be found at: http://adni.loni.ucla.edu/wp-content/uploads/how_to_apply/ADNI_Acknowledgement_List.pdf.
Description: To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P<0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer's disease (AD) cases; 12 040 controls) were selected, and in Stage II these were examined in an in silico analysis within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium GWAS (1367 cases and 12904 controls). Six novel signals reaching P<5 × 10(-6) were genotyped in an independent Stage III sample (the Fundació ACE data set) of 2200 sporadic AD patients and 2301 controls. We identified a novel association with AD in the adenosine triphosphate (ATP) synthase, H+ transporting, mitochondrial F0 (ATP5H)/Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus, which reached genome-wide significance in the combined discovery and genotyping sample (rs11870474, odds ratio (OR)=1.58, P=2.6 × 10(-7) in discovery and OR=1.43, P=0.004 in Fundació ACE data set; combined OR=1.53, P=4.7 × 10(-9)). This ATP5H/KCTD2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation.
Publisher: Basingstoke: Nature Publishing Group
Language: English

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ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

Basingstoke: Nature Publishing Group

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