Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer’s disease

Abstract

Associations between polymorphisms of the cystatin C gene (CST3) at 5' flanking region and exon 1 in Caucasian patients with late onset AD and exon 1 in a US study of late onset AD have been reported. Clinically diagnosed Japanese patients with AD and Japanese normal control subjects were assessed for the presence of polymorphisms of CST3. The authors could not confirm the previously reported association between CST3 polymorphisms and AD in Japan. Age had no effect on the CST3 genotype.

Genotype and Plasma Concentration of Cystatin C in Patients with Late-Onset Alzheimer Disease

“…However, Roks et al [23] found no association of CST3 polymorphism with early-onset AD in a population-based study in the Netherlands. The lack of association between CST3A allele frequency and AD has also been reported by others [24][25][26] . In this study, we found that the presence of the CST3A allele alone was unable to differentiate late-onset AD from ND.…”

Serum cystatin C and the risk of Alzheimer disease in elderly men

“…26 Finally, there is genetic data that support a causal role for cystatin C in the development of AD, [8][9][10]27 although there are conflicting findings. 28 Interestingly, the Icelandic form of hereditary cerebral hemorrhage with amyloidosis is caused by a mutation in the cystatin C gene, and these patients are characterized by low levels of cystatin C in CSF as well as in the systemic circulation, increased deposition of A␤ in cerebral blood vessels, dementia and death before age 40 years. 29 Recently, lower levels of cystatin C were reported in CSF in AD compared with controls.…”

Use of Cystatin C Determination in Clinical Diagnostics

“…Alzheimer's disease Cystatin C is, according to current knowledge, considered an amyloidogenic protein, occurring together with beta-amyloid in the walls of the cerebral arterioles in Alzheimer's disease patients, where it is assumed that cystatin leads to neuronal damage. In some patients with this disease, polymorphism of cystatin C gene is claimed to increase the risk of Alzheimer's disease and lower serum cystatin C levels have been found 6,11,19,20 .…”