Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-5-3
pubmed:abstractText
Both invitro and invivo alpha-1-antichymotrypsin (ACT) directly inhibits amyloid beta peptide (Abeta) degradation and promotes Abeta deposition. However, whether the genetic variants in the regulatory region (including the promoter and the two enhancers) of the ACT gene affect susceptibility to Alzheimer's disease (AD) remains controversial. Here, we screened ACT promoter and enhancers in 244 patients with sporadic Alzheimer's disease (SAD) and 205 control patients, both of north Han-Chinese origin. Four single nucleotide polymorphisms (SNP) were found: (i) 11510T/C (rs10145747, named as ACT1); 11496G/A (rs4375593, ACT2); (iii) 11491T/C (rs4508366, ACT3); and (iv) 51G/T (rs1884082, ACT4). Neither individual SNP nor haplotypes were associated with AD onset. We concluded that the effect of the variations in the ACT regulatory region must be very limited, if occurring at all.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1532-2653
pubmed:author
pubmed:copyrightInfo
Copyright 2009 Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
766-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Is there an association of regulatory region polymorphism in the alpha-1-antichymotrypsin gene with sporadic Alzheimer's disease in the northern Han-Chinese population?
pubmed:affiliation
Key Neurodegenerative Laboratory of Ministry of Education of the People's Republic of China, Beijing, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't