dc.contributor.author |
Boada, Mercè |
dc.contributor.author |
Antúnez, Carmen |
dc.contributor.author |
Ramírez Lorca, Repo |
dc.contributor.author |
DeStefano, Anita L. |
dc.contributor.author |
González Pérez, A. |
dc.contributor.author |
Gayán, Javier |
dc.contributor.author |
López Arrieta, Jesús |
dc.contributor.author |
Ikram, M. Arfan |
dc.contributor.author |
Hernández, Isabel |
dc.contributor.author |
Marín, J. |
dc.contributor.author |
Galán, José Jorge |
dc.contributor.author |
Bis, Joshua C. |
dc.contributor.author |
Mauleón, Ana |
dc.contributor.author |
Rosende-Roca, Maitée |
dc.contributor.author |
Moreno Rey, Concha |
dc.contributor.author |
Gudnason, Vilmundur |
dc.contributor.author |
Morón, Francisco Jesús |
dc.contributor.author |
Velasco, Juan |
dc.contributor.author |
Carrasco, José Miguel |
dc.contributor.author |
Alegret, Montserrat |
dc.contributor.author |
Espinosa, Ana |
dc.contributor.author |
Vinyes, Georgina |
dc.contributor.author |
Lafuente, Asunción |
dc.contributor.author |
Vargas, Liliana |
dc.contributor.author |
Fitzpatrick, Annette L. |
dc.contributor.author |
Launer, Lenore Joy |
dc.contributor.author |
Sáez, María Eugenia |
dc.contributor.author |
Vázquez, Enrique |
dc.contributor.author |
Becker, James T. |
dc.contributor.author |
López, Oscar L. |
dc.contributor.author |
Serrano Ríos, Manuel |
dc.contributor.author |
Tárraga, Lluís |
dc.contributor.author |
van Duijn, Cornelia M. |
dc.contributor.author |
Real, Luis M. |
dc.contributor.author |
Seshadri, Sudha |
dc.contributor.author |
Ruiz, Agustín |
dc.contributor.author |
Universitat Autònoma de Barcelona |
dc.date |
2014 |
dc.identifier |
https://ddd.uab.cat/record/184939 |
dc.identifier |
urn:10.1038/mp.2013.86 |
dc.identifier |
urn:oai:ddd.uab.cat:184939 |
dc.identifier |
urn:pmid:23857120 |
dc.identifier |
urn:pmcid:PMC4031637 |
dc.identifier |
urn:pmc-uid:4031637 |
dc.identifier |
urn:articleid:14765578v19n6p682 |
dc.identifier |
urn:scopus_id:84901251280 |
dc.identifier |
urn:wos_id:000336663100010 |
dc.identifier |
urn:altmetric_id:1627355 |
dc.identifier |
urn:oai:pubmedcentral.nih.gov:4031637 |
dc.format |
application/pdf |
dc.language |
eng |
dc.publisher |
|
dc.relation |
Ministerio de Educación y Ciencia PCT-010000-2007-18 |
dc.relation |
Ministerio de Educación y Ciencia DEX-580000-2008-4 |
dc.relation |
Molecular Psychiatry ; Vol. 19, Issue 6 (June 2014), p. 682-687 |
dc.rights |
open access |
dc.rights |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra, i la creació d'obres derivades, sempre que no sigui amb finalitats comercials i que es distribueixin sota la mateixa llicència que regula l'obra original. Cal que es reconegui l'autoria de l'obra original. |
dc.rights |
https://creativecommons.org/licenses/by-nc-sa/4.0/ |
dc.subject |
Alzheimer's disease |
dc.subject |
Genomics |
dc.subject |
GWAS |
dc.subject |
Molecular epidemiology |
dc.subject |
SNP |
dc.title |
ATP5H/KCTD2 locus is associated with Alzheimer's disease risk |
dc.type |
Article |
dc.description.abstract |
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 / KCT D2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation. |