Objective: To determine the effect of the pentanucleotide deletion polymorphism adjacent to a consensus splice site in intron 17 of alpha 2-macroglobulin(A2M) gene on the development of late-onset Alzheimer's disease (LOAD) in the Han Chinese in Guangzhou area.
Methods: A2M and apolipoprotein E genotypes were examined by polymerase chain reaction(PCR) and restriction fragment length polymorphism (RFLP) techniques in the patients(32 men and 65 women) with LOAD and age-matched healthy elderly Chinese subjects (57 men and 54 women).
Results: The A2M gene deletion allele frequency was 2.6% in the cases with LOAD and 2.7% in the controls. In the LOAD cases, the frequency of apoE-epsilon4 increased significantly (Z=3.32, P<0.01). ApoE-epsilon4 was associated with LOAD (RR=2.67, chi(2)=10.71, P<0.01) while the A2M deletion polymorphism was not associated with LOAD even the samples were stratified according to the presence of the apoE-epsilon4 allele.
Conclusion: The above data demonstrate that there is no evidence for the association of A2M polymorphism with the development of LOAD in the Han Chinese population in Gaungzhou.