Although flanking SNP cover the whole gene transcript with strong linkage disequilibrium, our data show that the CST3 gene is not associated with AD risk in the Finnish population.
Some reports claim that cystatin C binds soluble Abeta, making transgenic animals healthier, others, in contrast, that deleting cystatins genes may contribute to amyloid pathology in animal models of AD.
Homozygosity for haplotype B of CST3 was significantly associated with late-onset AD in both study populations, with an odds ratio of 3.8 (95% confidence interval, 1.56-9.25) in the combined data set; heterozygosity was not associated with an increased risk.