GENETIC VARIATIONS IN POLYCYSTIC OVARIAN SYNDROME DISEASE

  • Jesintha Mary M Dr. MGR Educational and Research Institute University, Chennai, Tamil Nadu
  • Umashankar V Vision Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu
  • Vijayalakshmi M Dr. MGR Educational and Research Institute University, Chennai, Tamil Nadu
  • Deecaraman M Dr. MGR Educational and Research Institute University, Chennai, Tamil Nadu

Abstract

objective: Polycystic ovary syndrome (PCOS) is one of the common endocrine disorders among women of reproductive age with a prevalence of
approximately 5-10% worldwide. PCOS is a complex genetic disorder caused by several genes and environmental factors. The aim of this study is to
provide an overview on variations in PCOS-associated genes based on underlying genetics
Methods: Detailed literature screening was performed in PubMed. Manual curation process was adopted to extract the information on PCOS,
associated genes, mechanism of association, details of the association, significance of association mentioned in the papers were carefully captured
according to the authors’ interpretation of the results.
Results: The detailed literature study revealed several genes and the genetic variations in PCOS and its critical effects, such as ovarian failure, obesity,
spontaneous abortion, recurrent pregnancy loss, insulin resistance, and hyperandrogenim. The causal genetic variants were assembled at various
levels, including mutation, single nucleotide polymorphism, etc., in PCOS and the associated phenotypic effects.
Conclusion: The genetic variations play an important role in the pathogenesis of PCOS across different ethnicities, as it is associated with various other
endocrine disorders including diabetes, insulin resistance, cardiovascular diseases, hyperandrogenism, reproductive disorders, etc. The underlying
mechanism and the network help in identifying the candidate genes or biomarkers in the disease conditions.
Keywords: Polycystic ovary syndrome, Gene, Mutation, Polymorphism, Single nucleotide polymorphism.

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How to Cite
M, J. M., U. V, V. M, and D. M. “GENETIC VARIATIONS IN POLYCYSTIC OVARIAN SYNDROME DISEASE”. Asian Journal of Pharmaceutical and Clinical Research, Vol. 8, no. 5, Sept. 2015, pp. 264-8, https://innovareacademics.in/journals/index.php/ajpcr/article/view/7498.
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