androgen receptor cag repeat polymorphism and epigenetic influence among the south indian women with polycystic ovary syndrome雄激素受体cag重复多态性和表观遗传的影响在南印度女性多囊卵巢综合症.pdfVIP

Androgen Receptor CAG Repeat Polymorphism and Epigenetic Influence among the South Indian Women with Polycystic Ovary Syndrome 1 1 2 3 4 Shilpi Dasgupta , Pisapati V. S. Sirisha , Kudugunti Neelaveni , Kathragadda Anuradha , Alla G. Reddy , 4 1 Kumarasamy Thangaraj , B. Mohan Reddy * 1 Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, Habsiguda, Hyderabad, India, 2 Department of Endocrinology, Osmania General Hospital, Hyderabad, India, 3 Anu Test Tube Baby Centre, Somajiguda, Hyderabad, India, 4 Centre for Cellular and Molecular Biology, Hyderabad, India Abstract The present study was carried out to assess the role of androgen receptor CAG repeat polymorphism and X chromosome inactivation (XCI) pattern among Indian PCOS women and controls which has not been hitherto explored and also to test the hypothesis that shorter CAG alleles would be preferentially activated in PCOS. CAG repeat polymorphism and X chromosome methylation patterns were compared between PCOS and non-PCOS women. 250 PCOS women and 299 controls were included for this study. Androgen receptor CAG repeat sizes, XCI percentages, and clinical and biochemical parameters were measured. The mean CAG repeat number is similar between the cases (18.7460.13) and controls (18.7360.12). The obese PCOS women were significantly more frequent in the ,18 and .20 CAG repeat category than the lean PCOS women, yielding a highly significant odds (p = 0.001). Among the women with non-random X-inactivation, alleles with ,19 repeats were more frequently activated among cases than controls (p = 0.33). CAG repeat po