Genetic association study of ERBB4 SNP rs1351592 with polycystic ovary syndrome in Pakistani population

2020 ◽  
pp. 1-10
Author(s):  
Tayyaba Afzal ◽  
Ghazala Kaukab Raja ◽  
Maimoona Afzal ◽  
Shakeel Ahmad ◽  
Nighat Sultana ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Susceptibility Loci ◽  
Nucleotide Polymorphism ◽  
Ovary Syndrome ◽  
Single Nucleotide ◽  
Pakistani Population ◽  
Chinese Populations ◽  
Ovulatory Dysfunction ◽  
Ovarian Morphology

Abstract Polycystic ovary syndrome (PCOS) is an oligogenic condition, characterised by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Previously, European and Han Chinese populations identified different susceptibility loci, of which ERBB4 (rs1351592) was strongly associated with PCOS. Our study aimed to investigate the association of ERBB4 Single Nucleotide Polymorphism (SNP), rs1351592 with PCOS in Pakistani women of Hazara region. Fifty PCOS patients and 14 healthy women were recruited and SNP was replicated using ARMS-PCR and sequencing. The study showed that Luteinising Hormone (LH), Follicle Stimulating Hormone (FSH), and Testosterone (T) were significantly elevated in patients compared to controls (P <0.05). Overall, the frequency of G allele was higher than C allele and the SNP lacked significant association with PCOS. This is the first study demonstrating the association of ERBB4 SNP, rs1351592 with PCOS in Pakistani population. Further research, Continuous....

scholarly journals Contemporary approaches to the management of polycystic ovary syndrome

2018 ◽  
Vol 9 (4) ◽  
pp. 123-134 ◽  
Author(s):  
Renato Pasquali
Keyword(s):  
Insulin Resistance ◽  
Polycystic Ovary Syndrome ◽  
Ovarian Function ◽  
Polycystic Ovary ◽  
Review Article ◽  
Metabolic Abnormalities ◽  
Androgen Excess ◽  
Ovary Syndrome ◽  
Ovulatory Dysfunction ◽  
Ovarian Morphology

Polycystic ovary syndrome (PCOS) is a common disorder in women in their reproductive years and is characterized by androgen excess, ovulatory dysfunction, and polycystic ovarian morphology. It is also associated with several metabolic abnormalities, particularly insulin resistance and obesity, which play an important role in the pathophysiology of PCOS and, in particular, negatively influence ovarian function and fertility. This review article summarizes the available treatment for women with PCOS. Specifically, current and potentially new therapies are discussed.

Options for generating polycystic ovary syndrome based on experimental findings in animal models

2020 ◽  
Vol 69 (4) ◽  
pp. 89-100
Author(s):  
Maria I. Yarmolinskaya ◽  
Elena I. Abashova ◽  
Olga L. Bulgakova
Keyword(s):  
Animal Models ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Reproductive Age ◽  
Ovary Syndrome ◽  
Indirect Methods ◽  
Ovulatory Dysfunction ◽  
Ovarian Morphology ◽  
Genetic Interventions ◽  
Experimental Findings

Polycystic ovary syndrome (PCOS) is a common endocrine pathology that affects 814% of women of reproductive age. The leading signs of the disease are hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology. Over the past decades, a variety of animal models have been developed to study the etiology and pathogenesis of PCOS, including chemical, hormonal, and genetic interventions. However, a large number of experimental techniques differ even in the framework of a single model. In this review article, we summarized PCOS animal models using both direct hormonal effects and indirect methods.

A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome

2008 ◽  
Vol 89 (5) ◽  
pp. 1213-1220 ◽  
Author(s):  
Eung-Ji Lee ◽  
Bermseok Oh ◽  
Jong-Young Lee ◽  
Kuchan Kimm ◽  
Sook-Hwan Lee ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Nucleotide Polymorphism ◽  
Ovary Syndrome ◽  
Single Nucleotide ◽  
Insr Gene
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