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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2007-4-20
pubmed:abstractText
Recent studies have demonstrated that cholesterol metabolism might play an important role in Alzheimer's disease (AD). Cholesterol 24-hydroxylase (CYP46) and ATP-binding cassette transporter A1 (ABCA1) have both been proposed to be involved in cholesterol metabolism in the brain. The purpose of this case-control study was to determine whether single nucleotide polymorphisms (SNPs) A-->G in the intron 2 of CYP46 gene and G-->A (R219K) in the exon 7 of ABCA1 gene are associated with sporadic AD in the Chinese Han population. Genotypes were determined by PCR-restriction fragment length polymorphism (PCR-RFLP) in 168 sporadic AD patients and 215 controls. There was no significant difference in the genotype or allele frequencies for CYP46 gene between AD patients and controls. However, we found an obvious association between the polymorphism of ABCA1 gene and AD (chi(2)=8.230, P=0.016). The risk for AD was significantly decreased in K allele (RK+KK genotypes) (adjusted OR=0.57, 95% CI=0.36-0.91, P=0.019) or KK homozygote carriers (adjusted OR=0.40; 95% CI=0.21-0.77, P=0.006) compared with RR genotypes carriers. Our results do not support a genetic association between the intron 2 polymorphism of CYP46 gene and the risk of sporadic AD, but reveal that KK genotype or K allele of ABCA1 gene may have a protective effect for sporadic AD in Chinese.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0006-8993
pubmed:author
pubmed:issnType
Print
pubmed:day
25
pubmed:volume
1147
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
34-8
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese.
pubmed:affiliation
Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Beijing, Beijing 100053, PR China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't