CAG repeat polymorphism of androgen receptor gene and X-chromosome inactivation in daughters of women with polycystic ovary syndrome (PCOS): relationship with endocrine and metabolic parameters

2012 ◽  
Vol 28 (7) ◽  
pp. 516-520 ◽  
Author(s):  
Bárbara Echiburú ◽  
Francisco Pérez-Bravo ◽  
Manuel Maliqueo ◽  
Amanda Ladrón de Guevara ◽  
Carla Gálvez ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Polycystic Ovary Syndrome ◽  
X Chromosome ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
X Chromosome Inactivation ◽  
Cag Repeat ◽  
Repeat Polymorphism ◽  
Ovary Syndrome

Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome

2008 ◽  
Vol 90 (6) ◽  
pp. 2318-2323 ◽  
Author(s):  
Jin Ju Kim ◽  
Seon Ha Choung ◽  
Young Min Choi ◽  
Sang Ho Yoon ◽  
Seok Hyun Kim ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Cag Repeat ◽  
Repeat Polymorphism ◽  
Ovary Syndrome

Role of the CAG Repeat Polymorphism of the Androgen Receptor Gene in Polycystic Ovary Syndrome (PCOS)

2011 ◽  
Vol 120 (02) ◽  
pp. 73-79 ◽  
Author(s):  
A. Schüring ◽  
A. Welp ◽  
J. Gromoll ◽  
M. Zitzmann ◽  
B. Sonntag ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Repeat Length ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Repeat Polymorphism ◽  
Ovary Syndrome

AbstractPolycystic ovary syndrome (PCOS) is a frequent heterogenic disorder with a familial background. Androgenic effects, determining the clinical features of the syndrome, are mediated by the androgen receptor (AR), whose activity is modulated by a genetic polymorphism. We investigated the role of the CAG repeat polymorphism of the androgen receptor in PCOS.In the infertility unit of a university clinic, 72 PCOS patients were compared with 179 ovulatory controls undergoing a standardized diagnostic work-up. The number of CAG repeats was determined by PCR, labelling with IR-800 and PAGE. X-chromosome inactivation was assessed by a methylation-sensitive assay.Compared to controls, PCOS patients displayed a shorter mean CAG repeat length, encoding for higher AR activity (P=0.001). CAG repeat length correlated inversely with oligomenorrhea, a central androgen dependent feature of the syndrome (P=0.005). In a binomial regression analysis including BMI, LH and free testosterone, CAG repeat length was identified as an independent risk factor for PCOS (P=0.002).The CAG repeat polymorphism could constitute one of the genetic factors modulating the syndrome’s phenotype, contributing to its clinical heterogeneity and associated metabolic consequences.

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