title: [Association between polymorphisms of Pen2 gene and late onset Alzheimer's disease].
abstract: OBJECTIVE
  To explore the association between single nucleotide polymorphisms (SNPs) in Pen2 gene and late onset Alzheimer's disease (LOAD) in North Chinese population.
  
  
  METHODS
  The genotypes of ApoE and Pen2 gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing respectively in 480 LOAD patients and 480 healthy controls. The strength of association between polymorphisms and AD was estimated with odds ratios (OR).
  
  
  RESULTS
  The genotype of IVS2 + 335T < A was obtained. There was an association between IVS2 + 335T < A and apolipoprotein E (ApoE) genotypes (P = 0.002). In the subjects with APOEε 4 allele, there were significant differences in the distribution of alleles (P = 0.003) and genotypes (P = 0.007) between AD and control groups. The ORs (95% confidence interval (CI)) of allele A and T/A + A/A genotypes were 4.720 (1.517 - 10.654) and 3.886 (1.381 - 10.932) respectively with allele T and genotype T/T as references.
  
  
  CONCLUSIONS
  An association exists between IVS2 + 335T < A and the development of LOAD in ApoEε 4 carriers within the northern Chinese population. And allele A of Pen 2 gene may increase the risk for LOAD.
authors.affiliation: Department of Neurology, Tongren Hospital, Beijing, China. jialongfei@gmail.com
authors.forename: Long-fei
authors.initials: LF
authors.lastname: Jia
authors.forename: Ji-hui
authors.initials: JH
authors.lastname: Lü
authors.forename: Zhong-hua
authors.initials: ZH
authors.lastname: Ma
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide
chemical_list: D053327:Apolipoprotein E4; D008565:Membrane Proteins; C469349:PSENEN protein, human; D053829:Amyloid Precursor Protein Secretases