A study on the association of the chromosome 12p13 locus with sporadic late-onset Alzheimer's disease in Chinese

Dement Geriatr Cogn Disord. 2009;27(6):508-12. doi: 10.1159/000218740. Epub 2009 May 18.


Recent linkage and association studies have implicated the chromosome 12p13 locus as possibly harboring genetic variants predisposed to Alzheimer's disease (AD). We attempted to replicate this association in a Chinese data set comprised of 256 AD cases and 264 age-matched normal controls. A total of 14 single nucleotide polymorphisms (SNPs) were examined. Single marker association revealed the two SNPs in NCAPD2 (rs7311174 and rs2072374) as showing nominal significant p values (p = 0.0491 and 0.0116, respectively). Haplotype analysis found LD block one to be significantly associated with AD (global p = 0.0250). Haplotypes CGGATG and CAGTCG were also significantly associated with AD (p = 0.0498 and p = 0.0482, respectively). These genetic analyses provide evidence that the chromosome 12p13 locus is associated with AD in Chinese.

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alleles
  • Alzheimer Disease / epidemiology*
  • Alzheimer Disease / genetics*
  • China / epidemiology
  • Cholesterol 24-Hydroxylase
  • Chromosomes, Human, Pair 12 / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Single Nucleotide
  • Reverse Transcriptase Polymerase Chain Reaction
  • Steroid Hydroxylases / genetics


  • Steroid Hydroxylases
  • Cholesterol 24-Hydroxylase