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Rodríguez‐Rodríguez, Eloy; Mateo, Ignacio; Llorca, Javier; Sánchez‐Quintana, Coro; Infante, Jon; García‐Gorostiaga, Inés; Sánchez‐Juan, Pascual; Berciano, José; Combarros, Onofre

Association of genetic variants of ABCA1 with Alzheimer's disease risk

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  • Medientyp: E-Artikel
  • Titel: Association of genetic variants of ABCA1 with Alzheimer's disease risk
  • Beteiligte: Rodríguez‐Rodríguez, Eloy; Mateo, Ignacio; Llorca, Javier; Sánchez‐Quintana, Coro; Infante, Jon; García‐Gorostiaga, Inés; Sánchez‐Juan, Pascual; Berciano, José; Combarros, Onofre
  • Erschienen: Wiley, 2007
  • Erschienen in: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
  • Sprache: Englisch
  • DOI: 10.1002/ajmg.b.30552
  • ISSN: 1552-485X; 1552-4841
  • Schlagwörter: Cellular and Molecular Neuroscience ; Psychiatry and Mental health ; Genetics (clinical)
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>ABCA1 plays key roles in cholesterol transport and apolipoprotein E (APOE) metabolism in the brain. To evaluate the relationship between <jats:italic>ABCA1</jats:italic> genetic variants and Alzheimer's disease (AD), independently or in concert with the <jats:italic>APOE</jats:italic> ε4 allele, we examined three <jats:italic>ABCA1</jats:italic> polymorphisms located in the coding region (<jats:italic>R219K</jats:italic>, <jats:italic>I883M</jats:italic>, and <jats:italic>R1587K</jats:italic>) and two <jats:italic>ABCA1</jats:italic> polymorphisms in the promoter region (<jats:italic>C</jats:italic>−<jats:italic>14T</jats:italic> and <jats:italic>C</jats:italic>−<jats:italic>477T</jats:italic>) in a group of 372 Spanish AD patients and 440 controls. The <jats:italic>ABCA1 219K</jats:italic>, <jats:italic>883I</jats:italic>, <jats:italic>1587R</jats:italic> haplotype was significantly associated with AD, conferring a risk of 1.78 (<jats:italic>P</jats:italic> = 0.007). The <jats:italic>ABCA1 C</jats:italic>−<jats:italic>14T</jats:italic> polymorphism modified the risk of AD in an <jats:italic>APOE</jats:italic> ε4 allele‐dependent fashion: in <jats:italic>APOE</jats:italic> ε4 carriers, homozygous for the <jats:italic>ABCA1</jats:italic> −<jats:italic>14T</jats:italic> allele had 3.7 times higher risk of developing AD (OR = 13.99) than carriers of the <jats:italic>ABCA1</jats:italic> −<jats:italic>14CC</jats:italic> and <jats:italic>CT</jats:italic> genotypes (OR = 3.79). These data suggest that the development of AD might be influenced by either a qualitative change of the ABCA1 protein caused by coding region variants (<jats:italic>219K</jats:italic>, <jats:italic>883I</jats:italic>, and <jats:italic>1587R</jats:italic>), or by a quantitative change in ABCA1 expression caused by promoter region variant (−<jats:italic>14T</jats:italic>) in concert with the <jats:italic>APOE</jats:italic> ε4 allele. © 2007 Wiley‐Liss, Inc.</jats:p>