View in EDS PDF Full Text

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

Saved in:
Bibliographic Details
Title: ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.
Authors: Boada, M, Antúnez, C, Ramírez-Lorca, R, DeStefano, A L, González-Pérez, A, Gayán, J, López-Arrieta, J, Ikram, M A, Hernández, I, Marín, J, Galán, J J, Bis, J C, Mauleón, A, Rosende-Roca, M, Moreno-Rey, C, Gudnasson, V, Morón, F J, Velasco, J, Carrasco, J M, Alegret, M
Source: Molecular Psychiatry. Jun2014, Vol. 19 Issue 6, p682-687. 6p.
Subjects: Alzheimer's disease risk factors, Locus (Genetics), Genetic polymorphisms, Nucleotide metabolism, Adenine nucleotides
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/KCTD2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation. [ABSTRACT FROM AUTHOR]
Copyright of Molecular Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 96120130
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: ATP5H/KCTD2 locus is associated with Alzheimer&#39;s disease risk.
– Name: Author
  Label: Authors
  Group: Au
  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Boada%2C+M%22&quot;&gt;Boada, M&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ant&#250;nez%2C+C%22&quot;&gt;Ant&#250;nez, C&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ram&#237;rez-Lorca%2C+R%22&quot;&gt;Ram&#237;rez-Lorca, R&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22DeStefano%2C+A+L%22&quot;&gt;DeStefano, A L&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Gonz&#225;lez-P&#233;rez%2C+A%22&quot;&gt;Gonz&#225;lez-P&#233;rez, A&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Gay&#225;n%2C+J%22&quot;&gt;Gay&#225;n, J&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22L&#243;pez-Arrieta%2C+J%22&quot;&gt;L&#243;pez-Arrieta, J&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ikram%2C+M+A%22&quot;&gt;Ikram, M A&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Hern&#225;ndez%2C+I%22&quot;&gt;Hern&#225;ndez, I&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Mar&#237;n%2C+J%22&quot;&gt;Mar&#237;n, J&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Gal&#225;n%2C+J+J%22&quot;&gt;Gal&#225;n, J J&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Bis%2C+J+C%22&quot;&gt;Bis, J C&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Maule&#243;n%2C+A%22&quot;&gt;Maule&#243;n, A&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Rosende-Roca%2C+M%22&quot;&gt;Rosende-Roca, M&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Moreno-Rey%2C+C%22&quot;&gt;Moreno-Rey, C&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Gudnasson%2C+V%22&quot;&gt;Gudnasson, V&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Mor&#243;n%2C+F+J%22&quot;&gt;Mor&#243;n, F J&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Velasco%2C+J%22&quot;&gt;Velasco, J&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Carrasco%2C+J+M%22&quot;&gt;Carrasco, J M&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Alegret%2C+M%22&quot;&gt;Alegret, M&lt;/searchLink&gt;
– Name: TitleSource
  Label: Source
  Group: Src
  Data: &lt;searchLink fieldCode=&quot;JN&quot; term=&quot;%22Molecular+Psychiatry%22&quot;&gt;Molecular Psychiatry&lt;/searchLink&gt;. Jun2014, Vol. 19 Issue 6, p682-687. 6p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Alzheimer&#39;s+disease+risk+factors%22&quot;&gt;Alzheimer&#39;s disease risk factors&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Locus+%28Genetics%29%22&quot;&gt;Locus (Genetics)&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Genetic+polymorphisms%22&quot;&gt;Genetic polymorphisms&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Nucleotide+metabolism%22&quot;&gt;Nucleotide metabolism&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Adenine+nucleotides%22&quot;&gt;Adenine nucleotides&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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&lt;0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer&#39;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&lt;5 &#215; 10−6 were genotyped in an independent Stage III sample (the Fundaci&#243; 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 &#215; 10−7 in discovery and OR=1.43, P=0.004 in Fundaci&#243; ACE data set; combined OR=1.53, P=4.7 &#215; 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: &lt;i&gt;Copyright of Molecular Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=96120130
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/mp.2013.86
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 6
        StartPage: 682
    Subjects:
      – SubjectFull: Alzheimer's disease risk factors
        Type: general
      – SubjectFull: Locus (Genetics)
        Type: general
      – SubjectFull: Genetic polymorphisms
        Type: general
      – SubjectFull: Nucleotide metabolism
        Type: general
      – SubjectFull: Adenine nucleotides
        Type: general
    Titles:
      – TitleFull: ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Boada, M
      – PersonEntity:
          Name:
            NameFull: Antúnez, C
      – PersonEntity:
          Name:
            NameFull: Ramírez-Lorca, R
      – PersonEntity:
          Name:
            NameFull: DeStefano, A L
      – PersonEntity:
          Name:
            NameFull: González-Pérez, A
      – PersonEntity:
          Name:
            NameFull: Gayán, J
      – PersonEntity:
          Name:
            NameFull: López-Arrieta, J
      – PersonEntity:
          Name:
            NameFull: Ikram, M A
      – PersonEntity:
          Name:
            NameFull: Hernández, I
      – PersonEntity:
          Name:
            NameFull: Marín, J
      – PersonEntity:
          Name:
            NameFull: Galán, J J
      – PersonEntity:
          Name:
            NameFull: Bis, J C
      – PersonEntity:
          Name:
            NameFull: Mauleón, A
      – PersonEntity:
          Name:
            NameFull: Rosende-Roca, M
      – PersonEntity:
          Name:
            NameFull: Moreno-Rey, C
      – PersonEntity:
          Name:
            NameFull: Gudnasson, V
      – PersonEntity:
          Name:
            NameFull: Morón, F J
      – PersonEntity:
          Name:
            NameFull: Velasco, J
      – PersonEntity:
          Name:
            NameFull: Carrasco, J M
      – PersonEntity:
          Name:
            NameFull: Alegret, M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: Jun2014
              Type: published
              Y: 2014
          Identifiers:
            – Type: issn-print
              Value: 13594184
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Molecular Psychiatry
              Type: main
ResultId 1