Objective: Regulator of calcineurin 1 (RCAN1) gene is a regulator on the activity of calcineurin and was reported to be overexpressed in Alzheimer's disease. The aim of this study was to evaluate several polymorphisms of RCAN1, located in the probable promoter region of RCAN1-4 and around the exonic splicing enhancer motifs of RCAN1, in a cohort of Chinese late-onset Alzheimer's disease.
Methods: A pilot case-control study was conducted in 142 Alzheimer's disease patients and 99 nondemented controls from Chinese Han population. Fragments of the RCAN1 including 5 polymorphisms (rs71324311, rs3831376, rs10550296, rs8135540, rs78899361) were amplified and sequenced.
Results: In our sample, 2 polymorphisms (rs71324311 and rs10550296) were associated with Alzheimer's disease. Of these 2 polymorphisms, the heterozygous deletion genotype of rs71324311 was more prevalent in non-demented controls than in those with Alzheimer's disease (4% vs. 0%), indicating a slight protective role (Fisher's exact test, p = 0.03; crude odds ratio = 0.96, 95% confidence interval = 0.92-0.99). There was only a trend towards a significant difference in the distributions of genotypes of rs10550296 between 2 groups (chi2 = 1.93; p = 0.17; crude odds ratio = 1.44, 95% confidence interval = 0.85-2.41). However, logistic regression analysis showed that the age-, gender- and apolipoprotein E epsilon4-adjusted odds ratio of Alzheimer's disease with rs10550296 heterozygous deletion genotype was 2.11 (chi2 = 4.42; p = 0.04; 95% confidence interval = 1.05-4.20).
Conclusions: Regarding Alzheimer's disease susceptibility in Chinese Han population, our data suggested a protective role for the rs71324311 heterozygous deletion genotype and a risk role from the rs10550296 heterozygous deletion genotype.