title: Androgen receptor gene and sex-specific Alzheimer's disease.
abstract: 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.
authors.affiliation: Texas Tech University, Health Sciences Center, Department of Internal Medicine, Lubbock, TX 79430, USA.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Ferrari
authors.forename: Saad
authors.initials: S
authors.lastname: Dawoodi
authors.forename: Merrill
authors.initials: M
authors.lastname: Raju
authors.forename: Avinash
authors.initials: A
authors.lastname: Thumma
authors.forename: Linda S
authors.initials: LS
authors.lastname: Hynan
authors.forename: Shirin Hejazi
authors.initials: SH
authors.lastname: Maasumi
authors.forename: Joan S
authors.initials: JS
authors.lastname: Reisch
authors.forename: Sid
authors.initials: S
authors.lastname: O'Bryant
authors.forename: Marjorie
authors.initials: M
authors.lastname: Jenkins
authors.forename: Robert
authors.initials: R
authors.lastname: Barber
authors.forename: Parastoo
authors.initials: P
authors.lastname: Momeni
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D015331:Cohort Studies; D005091:Exons / Q000235:genetics; D005260:Female; D020868:Gene Silencing; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D047648:Perimenopause / Q000235:genetics / Q000502:physiology; D011944:Receptors, Androgen / Q000235:genetics*; D012307:Risk Factors; D012737:Sex Factors; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D011944:Receptors, Androgen
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