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Review Papers | Genetics | India | Volume 11 Issue 9, September 2022 | Popularity: 5.1 / 10
Genetic Variant of Alu Ace and its Susceptibility in PCOS
Shriya Sangral
Abstract: A considerable section of the world's population suffers with PCOS, a frequent infertility disorder. With an 8?13% incidence, it is the most common endocrine illness in women of reproductive age. As the condition is multiple and complicated, it is sometimes difficult to diagnose. The overlap of the disease's origins, the variety of factors that contribute to it, the complexity of its pathophysiology, the variety of signaling pathways and proteins, and the lack of a precise genetic diagnostic test are the causes of this. Although improvements have been achieved in PCOS diagnosis and therapy, little is understood about the key signaling pathways and molecular players involved. In this review, we reviewed the clinical spectrum, genetic variation of ALU ACE associated with PCOS, and the nature of physical and genetic interactions between genetic factors. Understanding the genetic variables and cell signaling mechanisms underlying PCOS would surely help us better grasp the syndrome's pathogenesis. Elevated ACE concentrations in plasma are caused by a genetic variation in the ACE and lead to insulin resistance and hyperandrogenism, both of which are hallmarks of PCOS. As a result, it was suggested that ALU ACE I/D polymorphism contributes to PCOS etiology.
Keywords: PCOS, Polycystic Ovarian Syndrome, ALU ACE, ALU ACE insertion - deletion polymorphism, Pathophysiology
Edition: Volume 11 Issue 9, September 2022
Pages: 412 - 419
DOI: https://www.doi.org/10.21275/SR22907172930
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