期刊
JOURNAL OF CLINICAL NEUROSCIENCE
卷 17, 期 6, 页码 766-769出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2009.10.017
关键词
Alpha-1-antichymotrypsin; Alzheimer's disease; Haplotype; Regulatory region; Polymorphism
资金
- National Key Technology R&D Program in the Eleventh Five-year Plan Period [2006BA102B01]
- National Basic Research 973 Program [2006CB500700]
- National Natural Science Key Foundation [30830045]
- Beijing Natural Science Key Foundation [7071004]
- Funding Project for Academic Human Resources Development in Institutions of Higher Learning under the Jurisdiction of Beijing Municipality
- Ministry of Education of the People's Republic of China
Both in vitro and in vivo alpha-1-antichymotrypsin (ACT) directly inhibits amyloid beta peptide (A beta) degradation and promotes A beta 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. (C) 2009 Elsevier Ltd. All rights reserved.
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