Recent evidence has shown that the androgen receptor (AR) plays a major role in all prostate cancer stages, including both androgen-dependent and -independent tumors. A large number of studies have examined the possible effects of a functional polymorphism in the AR gene, a variable-length CAG repeat, on the development of prostate cancer, but the results to date have been inconclusive. We have...

Introduction: Androgens may play a role in the development of ovarian cancers. Two trinucleotide repeat polymorphisms have been described in exon 1 of the androgen receptor (AR) gene that may affect its function. Previous studies of ovarian cancer and AR repeat polymorphisms have been inconsistent. Methods: We analyzed CAG and GGC repeat length polymorphisms in the AR gene using data from a pop...

Instability of a CAG repeat in 4p16.3 has been found in Huntington's disease (HD) chromosomes. Unlike a similar repeat in the fragile X syndrome, the expanded HD repeat showed no evidence of somatic instability in a comparison of blood, lymphoblast, and brain DNA from the same persons. Four pairs of monozygotic HD twins displayed identical CAG repeat lengths suggesting that repeat size is deter...

More than 12 neurogenetic disorders are caused by unstable expansions of (CTG)•(CAG) repeats. The expanded repeats are unstable in germline and somatic cells, with potential consequences for disease severity. Previous studies have shown that contractions of (CAG)(95) are more frequent when the repeat tract is transcribed. Here we determined whether transcription can promote repeat expansion, us...

To determine the population variation in the androgen receptor (AR) and its association with body composition in a subsistence population, we sampled 87 settled and 65 nomadic males ages 20+ among the Ariaal of northern Kenya. Anthropometric measures included height, body mass index, fat-free mass (FFM), upper arm muscle plus bone area (AMPBA), % body fat (%BF), suprailliac skinfold (SISF), and...

There is some evidence that women with a higher number of CAG repeat lengths on the androgen receptor (AR) gene have increased breast cancer risk. We evaluated the association between AR-CAG repeat length and mammographic density, a strong breast cancer risk factor, in 404 African-American and Caucasian breast cancer patients. In postmenopausal estrogen progestin therapy users, carriers of the ...

Introduction: The metabolic syndrome (MS) includes a clustering of metabolic derangements and low testosterone levels have been shown to be associated with both components of MS and MS per se. In this study we explored the relationship between androgen receptor (AR) CAG repeat length polymorphism and MS in a Korean male population. Materials and methods: The association between AR CAG repeat le...

CONTEXT There is a large interindividual variation in serum (free) testosterone (FT) levels in men, underlain in part by genetic components. OBJECTIVE The objective of the study was to explore the hypothesis that this variability results in part from differences in androgen sensitivity and feedback loop set point and assess the role of the androgen receptor (AR) polyglutamine tract polymorphi...

In an earlier report, we showed that a shorter CAG repeat length in the androgen receptor (AR) gene is associated with an increased risk of prostate cancer in China, the population with the lowest reported prostate cancer incidence in the world. Because AR coactivators enhance transactivation of AR, in this report we evaluated the relationship of a CAG/CAA repeat length polymorphism in the AIB1...

The human androgen receptor (AR) gene contains a CAG (glutamine) repeat polymorphism in exon 1 that is inversely associated with transcriptional activity of the AR. We studied the association of AR CAG repeat length, fat-free mass (FFM), and testosterone in two independent cohorts: 294 Caucasian men, aged 55-93 yr, from the Study of Osteoporotic Risk in Men (STORM), and 202 Caucasian volunteers...