Genetic risk factors of sporadic Alzheimer's disease among Chinese in Beijing / 中华老年医学杂志

ABSTRACT

Objective To evaluate the genetic factors for sporadic Alzheimer's disease(SAD) among a Chinese population in Beijing. Gene polymorphisms was studied: apolipoprotein E,ps-1 gene E318G missense mutation,alpha(2)-macroglobulin gene Val1000/Ile1000,mtDNA4336G mutation and methylene tetrahydro-fulek reduclase (MTHFR) C677T mutation. Methods The polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)technique was used to analyze the genotype of 127 SAD patients and 138 non-dementia elderly controls. Results There was a significant difference in the frequency of apoE allele gene between SAD and control group. The freguencies with 2 of apoE4 ,1 of apoE4 and none of apoE4 in SAD were 2.4%,18.1%,79.5% respectively,and in normal control were 0.7%,10.1%,89.2% respectively. mtDNA4336 mutation and ps-1 E318G missense mutation were not found in either Alzheimer's disease or age-matched controls. The frequency of A2M Val1000 (GTC)/Ile1000 (ATC),G/G genetype was 0.02 in SAD and 0.01 in NC . The frequency of MTHFR C677T mutation was 46.3% in SAD and 43.8% in NC respectively, The mutation frequency of cases was not significantly increased than that of controls. Conclusions Our study indicates that apoE?4 allele gene is risk factor for SAD.