A deletion polymorphism of alpha(2)-macroglobulin gene and cerebral amyloid angiopathy

Background and Purpose-alpha(2)-Macroglobulin may be implicated in amyloid beta protein deposition. A deletion in the exon 18 splice acceptor of the a lpha(2)-macroglobulin gene (A2M) has been reported to be associated with ri sk for Alzheimer's disease (AD), In search of genetic risk factors for cere bral amyloid angiopathy (CAA), we investigated association of the A2M delet ion polymorphism with CAA. Methods-The association between the severity of CAA and A2M deletion polymo rphism was investigated in 178 autopsy cases of the elderly including 68 pa tients with AD. Results-There was no significant difference in the severity of CAA between individuals with the A2M deletion allele and those without in the AD, non-A D, or total cases. Status for the epsilon 4 allele of the apolipoprotein E gene did not influence the results, Conclusions-Our results suggest that the A2M deletion polymorphism may not be a definitive risk factor of CAA in the elderly, although further study w ith larger samples is necessary to confirm this.