Androgen receptor gene and sex-specific Alzheimer's disease

Raffaele Ferrari, Saad Dawoodi, Merrill Raju, Avinash Thumma, Linda S. Hynan, Shirin Hejazi Maasumi, Joan S. Reisch, Sid O'Bryant, Marjorie Jenkins, Robert Barber, Parastoo Momeni

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Women are at a 2-fold risk of developing late-onset Alzheimer's disease (AD) (onset at 65 years of age or older) compared with men. During perimenopausal years, women undergo hormonal changes that are accompanied by metabolic, cardiovascular, and inflammatory changes. These all together have been suggested as risk factors for late-onset AD. However, not all perimenopausal women develop AD; we hypothesize that certain genetic factors might underlie the increased susceptibility for developing AD in postmenopausal women. We investigated the Androgen Receptor gene (. AR) in a clinical cohort of male and female AD patients and normal control subjects by sequencing all coding exons and evaluating the length and distribution of the CAG repeat in exon 1. We could not establish a correlation between the repeat length, sex, and the disease status, nor did we identify possible pathogenic variants. AR is located on the X chromosome; to assess its role in AD, X-inactivation patterns will need to be studied to directly correlate the actual expressed repeat length to a possible sex-specific phenotypic effect.

Original languageEnglish
Pages (from-to)2077.e19-2077.e20
JournalNeurobiology of Aging
Issue number8
StatePublished - Aug 2013


  • Alzheimer's disease
  • Androgen receptor
  • Epigenetics
  • Menopause
  • X-inactivation


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