Androgen receptor polyglutamine repeat number: models of selection and disease susceptibility.

ABSTRACT: Variation in polyglutamine repeat number in the androgen receptor (AR CAGn) is negatively correlated with the transcription of androgen-responsive genes and is associated with susceptibility to an extensive list of human disease. Only a small portion of the heritability for many of these diseases is explained by conventional SNP-based genome-wide association studies, and the forces shaping AR CAGn among humans remains largely unexplored. Here, we propose evolutionary models for understanding selection at the AR CAG locus, namely balancing selection, sexual conflict, accumulation-selection, and antagonistic pleiotropy. We evaluate these models by examining AR CAGn-linked susceptibility to eight extensively studied diseases representing the diverse physiological roles of androgens, and consi

SUBMITTER: Ryan CP 

PROVIDER: S-EPMC3586616 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature