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CYP19 haplotypes increase risk for Alzheimer’s disease
  1. R Huang1,
  2. S E Poduslo1,2
  1. 1Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, GA, USA
  2. 2Institute of Molecular Medicine, Department of Neurology, VA Medical Center, Augusta, GA, USA
  1. Correspondence to:
 Dr S E Poduslo
 IMMAG, Medical College of Georgia, 1120 15th Street, Augusta, GA 30912; spoduslo{at}


Cytochrome P450 aromatase, an enzyme that catalyses the conversion of androgens to oestrogen, is expressed at high levels in the gonads and in the brain. Aromatase activity is increased in the nucleus basalis of Meynert during aging and in Alzheimer’s disease (AD), making the gene (CYP19), at 15q21.1, a potential candidate risk factor.We examined 18 single nucleotide polymorphisms spanning the 5′-untranslated region and the entire coding region of CYP19 in 227 patients with AD and 131 control spouses.We found that the gene region could be divided into two haplotype blocks; a haplotype in block 1 and a haplotype in block 2 increased the risk of developing the disease by twofold in APOE 4 carriers. The implication of two haplotypes conferring increased risk for AD warrants further investigation of the regulation of aromatase activity in brain.

  • AD, Alzheimer’s disease
  • EM, expectation maximisation
  • LD, linkage disequilibrium
  • SBE, single base extension
  • SNP, single nucleotide polymorphism
  • UTR, untranslated region
  • Alzheimer’s disease
  • haplotypes
  • cytochrome P450 aromatase

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  • Competing interests: there are no competing interests.

  • The study was approved by the MCG institutional review board.