Association of NR3C1/Glucocorticoid Receptor gene SNP with azoospermia in Japanese men

Abstract

The NR3C1 rs852977 polymorphism is a potential marker for genetic susceptibility to NOA in Japanese men. Further studies are necessary to clarify the association between the NR3C1 polymorphism and alterations of glucocorticoid signaling pathway leading to male infertility.

The Glucocorticoid Receptor NR3C1 in Testicular Peritubular Cells is Developmentally Regulated and Linked to the Smooth Muscle-Like Cellular Phenotype

“…The results pinpoint GRα, i.e., the biologically active splice variant of the GR, which was also readily detected in HTPCs, among others by Western blot. A previous study employed also Western blotting and reported the full length GRα in whole human testes homogenates [1]. In our study, the same antibody was used for both Western blot and immunohistochemistry, and hence, we conclude that GRα is present also in situ.…”

“…Clearly, we cannot rule out that low levels of other variants, which are described in humans, including the GRβ variant, may also be expressed [29]. Future studies will also have to address the single nucleotide NR3C1 polymorphisms described [1,4].…”

“…The glucocorticoid receptor (GR; NR3C1, nuclear receptor subfamily 3 group C member 1) is present in the human testis [1], yet little is known about its significance for testicular function. However, it is well documented that levels of high glucocorticoid (GC) in patients with Cushing s disease are associated with impaired testicular functions [2,3].…”

“…Expression of GR in human testicular peritubular cells (HTPCs). (A) Representative RT-PCR products from HTPCs of three different donors(1)(2)(3). A single band at the expected size of 113 bp is depicted, which upon sequencing was found to correspond to human GRα.…”

Feed efficiency traits in Santa Inês sheep under genomic approaches

“…This gene is an upstream regulator of protamine expression, implicated in male infertility38 . Supporting this idea, a recent study shows that the percentage of azoospermia in humans change as the YBX2 genotype change39 . Besides, in the same chromosome, the gene BPTF (Bromodomain PHD finger transcription factor; from 48.38 to 48.47 Mb) is responsible to regulate and signaling pathways of embryos and embryonic stem cells in early mouse40 .…”