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?
机构：[a]Key Neurodegenerative Laboratory of Ministry of Education of the People’s Republic of China, Beijing, China[b]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, 45 Changchun Street, Beijing 100053, China神经内科首都医科大学宣武医院
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.
基金：
National Key Technology R&D Program in the Eleventh Five-year Plan Period (2006BAI02B01), the National Basic Research 973 Program (2006CB500700),
National Natural Science Key Foundation (30830045), Beijing Natural Science Key Foundation (7071004),
and Funding Project for Academic Human Resources Development in Institutions of Higher Learning under the Jurisdiction of Beijing Municipality.
第一作者机构：[a]Key Neurodegenerative Laboratory of Ministry of Education of the People’s Republic of China, Beijing, China
通讯作者：
通讯机构：[b]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, 45 Changchun Street, Beijing 100053, China
推荐引用方式(GB/T 7714)：
Guran Yu,Jianping Jia.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?[J].JOURNAL OF CLINICAL NEUROSCIENCE.2010,17(6):766-769.doi:10.1016/j.jocn.2009.10.017.
APA：
Guran Yu&Jianping Jia.(2010).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?.JOURNAL OF CLINICAL NEUROSCIENCE,17,(6)
MLA：
Guran Yu,et al."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?".JOURNAL OF CLINICAL NEUROSCIENCE 17..6(2010):766-769
