title: Two polymorphisms of RCAN1 gene associated with Alzheimer's disease in the Chinese Han population.
abstract: 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.
authors.affiliation: Department of Geriatric Psychiatry, Guangzhou Psychiatric Hospital, Affiliated Hospital of Guangzhou Medical College, Guangdong Province 510370, PR China. linkangguang@163.com
authors.forename: K G
authors.initials: KG
authors.lastname: Lin
authors.forename: M
authors.initials: M
authors.lastname: Tang
authors.forename: Y B
authors.initials: YB
authors.lastname: Guo
authors.forename: H Y
authors.initials: HY
authors.lastname: Han
authors.forename: Y H
authors.initials: YH
authors.lastname: Lin
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004268:DNA-Binding Proteins; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D016017:Odds Ratio; D010865:Pilot Projects; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D009124:Muscle Proteins; C108612:RCAN1 protein, human