TGFβ3 (TGFB3) polymorphism is associated with male infertility

TGFβ3 (TGFB3) polymorphism is associated with male infertility.

Factors affecting the blood-testis barrier function may be involved in testicular damage and male infertility. Two cytokines play an important role in the barrier regulation, namely transforming growth factor beta 3 (TGF-β3) and tumor necrosis factor (TNF-α). The aim of this study was to investigate the potential association between TGF-β3 (TGFB3) and TNF-α (TNF) gene polymorphisms and male inf...

Phosphodiesterase 8B Polymorphism rs4704397 Is Associated with Infertility in Subclinical Hypothyroid Females: A Case-Control Study

Background: Subclinical hypothyroidism (SCH) remains largely unnoticed as a major cause of infertility due toasymptomatic. Polymorphisms of phosphodiesterase 8B gene (PDE8B) have been linked with various diseases,including female infertility. Hence, we aimed to study prevalence of SCH, in infertile females, explore associationof PDE8B rs4704397 A/G and rs6885099 G/A polymorphi...

Gene Mutations Associated with Male Infertility

Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility

DEFB126 rs140685149 mutation was shown to cause sperm dysfunction and subfertility. Indel rs11467497 is another 4-nucleotide frame-shift mutation (151bp upstream of rs140685149) that leads to the premature termination of translation and the expression of peptide truncated at the carboxyl terminus. In the present study, we performed a comprehensive association study to check the contribution of ...

The POLG Gene Polymorphism in Iranian Varicocele-Associated Infertility Patients

Objective(s) Varicocele is associated with impaired testicular function and male infertility, but the molecular mechanisms by which fertility is affected have not been satisfactorily explained. The aim of our study was to investigate whether or not the polymerase gamma (POLG) polymorphism is associated with Iranian varicocele patients.    Materials and Methods We determined the POLG CAG repe...