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Background:Polycystic ovary syndrome (PCOS) is a common endocrine disorder occurring in premenopausal women, with a prevalence rate of 5%–7%. It has been observed in multiple number of studies the coexistence between diabetes mellitus 2 and obesity with this endocrinopathic disorder. Transcription factor 7-like 2 (TCF7L2) gene is shown to be associated with insulin secretion.Aim:To screen whether the gene variant of TCF7L2 (formerly TCF4) gene is significantly associated and has susceptibilities with type 2 diabetes in PCOS. This study is essential to uncover diabetogenic association of the TCF7L2 gene variants with PCOS.Design:This was a hospital-based study.Methods:In this work, blood samples from 43 PCOS patients with age and sex similar to 43 control samples were collected, followed by isolation of DNA. Further genotyping of the TCF7L2 gene was carried out by performing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Statistical Analysis:Genotype frequencies of the TCF7L2 rs7903146 gene were checked by Hardy–Weinberg equilibrium of genotype in both PCOS and the control group, and also, the frequencies of the genotype were performed accordingly.Results:There was no significant allelic variation observed among the patient and the control samples. From the patient details, it was observed that women between the age group of 21 and 25 years are susceptible to PCOS.Conclusion:From the PCR-RFLP analysis, it can be stated that there are no expected gene polymorphisms seen in this study, unlike the study carried out on the Chinese population where they observed genotype variations CC, CT, and TT. From this study, we can conclude that TCF7L2 rs7903146 gene cannot be considered as the candidate gene for the occurrence of PCOS.

Polycystic ovary syndrome (PCOS) is an endocrine/metabolic disease because of the elevated levels of androgen which could lead to anovulation. The angiotensin-converting-enzyme (ACE) is a zinc metallopeptidase that converts angiotensin I to angiotensin II. ACE is bound to the plasma membrane and expressed in many tissues such as ovarian tissues. The renin-angiotensin system (RAS help the production of angiotensin, angiotensinogen, and ACE. Angiotensin II plays a major role in ovulation, steroidogenesis, follicular atresia and hyperandrogenic syndromes such as PCOS. This study aimed to determine the association of ACE polymorphism in PCOS to analyze the distribution allele frequency of insertion or deletion variation in PCOS patients of the South Indian cohort. A total of 430 women with PCOS confirmed based on the Rotterdam criteria and 300 age and sex-matched control samples were studied. PCR technique was used to determine the frequency of polymorphism in the ACE gene. The genotyping distribution of II, DD and ID in PCOS was 4.56%, 30.23%, and 65.11%, respectively, whereas the control group showed 30%, 20%, and 50% for II, DD and ID, respectively. The deletion (D) allele frequency was 62.79% and insertion (I) allele was 37.2 % in PCOS patients, whereas in the control group, it was 45% and 55% for D and I alleles, respectively. This study concludes that the distribution of deletion (D) allele frequency of ACE could be considered as a genetic marker for PCOS in the South Indian cohort.

Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value (45.9°) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

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