Abstract
ObjectivePolycystic ovarian syndrome (PCOS) refers to an inheritable androgen excess disorder characterized by multiple small follicles located at the ovarian periphery. Hyperandrogenism in PCOS, and inverse correlation between androgen receptor (AR) CAG numbers and AR function, led us to hypothesize that CAG length variations may affect PCOS risk.MethodsCAG repeat region of 169 patients recruited following strictly defined Rotterdam (2003) inclusion criteria and that of 175 ethnically similar control samples, were analyzed. We also conducted a meta-analysis on the data taken from published studies, to generate a pooled estimate on 2194 cases and 2242 controls.ResultsCAG bi-allelic mean length was between 8.5 and 24.5 (mean = 17.43, SD = 2.43) repeats in the controls and between 11 and 24 (mean = 17.39, SD = 2.29) repeats in the cases, without any significant difference between the two groups. Further, comparison of bi-allelic mean and its frequency distribution in three categories (short, moderate and long alleles) did not show any significant difference between controls and various case subgroups. Frequency distribution of bi-allelic mean in two categories (extreme and moderate alleles) showed over-representation of extreme sized alleles in the cases with marginally significant value (50.3% vs. 61.5%, χ2 = 4.41; P = 0.036), which turned insignificant upon applying Bonferroni correction for multiple comparisons. X-chromosome inactivation analysis showed no significant difference in the inactivation pattern of CAG alleles or in the comparison of weighed bi-allelic mean between cases and controls. Meta-analysis also showed no significant correlation between CAG length and PCOS risk, except a minor over-representation of short CAG alleles in the cases.ConclusionCAG bi-allelic mean length did not differ between controls and cases/case sub-groups nor did the allele distribution. Over-representation of short/extreme-sized alleles in the cases may be a chance finding without any true association with PCOS risk.
Highlights
Polycystic ovarian syndrome (PCOS) refers to an inheritable endocrine disorder characterized by multiple small follicles located under the surface of one or both of the ovaries of a woman
A consensus workshop in Rotterdam in May 2003 suggested that a woman has PCOS if she has two of the following three features: (1) Oligo- or an-ovulation, (2) Clinical and/or biochemical signs of hyperandrogenism, and (3) Polycystic ovaries [1]
Allele distribution pattern looked similar between the two groups (Fig. 1)
Summary
Polycystic ovarian syndrome (PCOS) refers to an inheritable endocrine disorder characterized by multiple small follicles located under the surface of one or both of the ovaries of a woman. These follicles are all small and immature and do not grow to maturity and ovulate. Human AR gene is located on the X-chromosome and consists of eight exons and seven introns It encodes the AR protein having three domains (1) N-terminal transactivation domain (2) central DNA-binding domain and (3) C-terminal ligand- binding domain. This microsatellite region (CAG repeat) encodes a poly-glutamine tract and affects the transactiva-
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