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?
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?
复制标题
α-1-抗胰凝乳蛋白酶基因调控区多态性与北方汉族人群中散发性阿尔茨海默病是否存在关联？
DOI：
10.1016/j.jocn.2009.10.017
复制
发表时间：
2010
影响因子：
2
通讯作者：
J. Jia
中科院分区：
文献类型：
--
作者：
G. Yu;J. Jia
Both invitro and invivo alpha-1-antichymotrypsin (ACT) directly inhibits amyloid beta peptide (Aβ) degradation and promotes Aβ 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.
