Androgen receptor CAG repeats length polymorphism and the risk of polycystic ovarian syndrome (PCOS)

Polycystic 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 CA...

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Bibliographic Details
Published in:PloS one 2013-10, Vol.8 (10), p.e75709-e75709
Main Authors: Rajender, Singh, Carlus, Silas Justin, Bansal, Sandeep Kumar, Negi, Mahendra Pal Singh, Negi, Mahendra Pratap Singh, Sadasivam, Nirmala, Sadasivam, Muthusamy Narayanan, Thangaraj, Kumarasamy
Format: Article
Language:English
Subjects:
Adult
Alleles
Androgen receptors
Androgens
Correlation
Correlation analysis
Data processing
Deactivation
Female
Follicles
Frequency distribution
Genetic aspects
Genetic Predisposition to Disease
Genotype
Hair
Hospitals
Humans
Hyperandrogenism - genetics
Inactivation
Infertility
Meta-analysis
Middle Aged
Molecular biology
Polycystic ovary syndrome
Polycystic Ovary Syndrome - genetics
Polycystic Ovary Syndrome - metabolism
Polyglutamine
Polymorphism
Polymorphism, Genetic
Receptors, Androgen - genetics
Receptors, Androgen - metabolism
Representations
Risk
Subgroups
Systematic review
Testosterone
Trinucleotide Repeats
Women
X chromosomes
X-chromosome inactivation
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Summary:Polycystic 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. CAG 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. CAG 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%, χ(2) = 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. CAG 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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0075709