Molecular Role of Asn680Ser and Asp37Glu Missense Variants in Saudi Women with Female Infertility and Polycystic Ovarian Syndrome

Alshammary, Amal F.; Alsobaie, Sarah; Alageel, Arwa A.; Aldakheel, Fahad M.; Ansar, Sabah; Alrashoudi, Reem; Farzan, Raed; Alturki, Norah A.; Alhaizan, Maysoon; Al-Mutawa, Johara; Khan, Imran Ali

doi:10.3390/cimb45070348

Cited by 4 publications

(1 citation statement)

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“…Women diagnosed with PCOS commonly experience disruptions in their hormonal balance, insulin resistance (IR), and metabolic functions. These issues can subsequently lead to the development of fertility issues (FI), type 2 diabetes mellitus (T2DM), and cardiovascular disease (CVD), collectively affecting the woman’s overall quality of life [ 5 ]. Although the etiology of PCOS is unclear, the most common co-morbidities are obesity and diabetes mellitus [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Association of FTO gene variant rs9939609 with polycystic ovary syndrome from Gujarat, India

Chaudhary,

Patel,

Jain

et al. 2023

BMC Med Genomics

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Background Polycystic ovary syndrome is a multifactorial endocrine disorder impacting women of reproductive age. Variations within the FTO gene have been linked to both obesity and type 2 diabetes mellitus. Given that PCOS is frequently associated with obesity and compromised glucose tolerance, we investigated the prevalence of the rs9939609 variant within the FTO gene among women diagnosed with PCOS and a control group. Our aim is to uncover potential correlations between this genetic variant, metabolic attributes, and endocrine markers within the Gujarat province of India. Method We enrolled a total of 114 participants, (62 individuals diagnosed with PCOS and 52 healthy controls). DNA extraction from venous blood was conducted for all participants. The rs9939609 polymorphism was investigated through tetra-primer amplification refractory mutation system-polymerase chain reaction. Furthermore, we performed biochemical assessments to quantify levels of estradiol, luteinizing hormone (LH), follicle-stimulating hormone (FSH), thyroid-stimulating hormone (TSH), total testosterone, prolactin (PRL), and Dehydroepiandrosterone sulfate (DHEAS). Statistical analyses were carried out utilizing SPSS version 21 (IBM, USA). Results The present study did not reveal any noteworthy association between cases and controls. The frequencies of genotypes and alleles within the cohorts displayed no statistically significant differences (p = 0.25, p = 0.68, and p = 0.78, respectively). The dominant model indicated a modest risk (OR:1.13, 95%CI: 0.55 to 2.38) toward PCOS development. There was a noticeable statistical difference observed in the levels of total testosterone, DHEAS, and BMI between the case and control groups (p < 0.002, p < 0.0002, p < 0.0008). However, no variations in clinical variables were observed among genotypes within the PCOS group. Conclusion This is the first study to investigate the association of FTO gene polymorphism and PCOS in Gujarati population. Our study findings indicate that the FTO gene variant is not directly linked to the onset of PCOS. However, it appears to exert an influence on metabolic factors such as obesity and insulin resistance. Notably, our results suggest that insulin resistance is more frequently observed among PCOS patients who are obese, as compared to those with non-obese PCOS patients.

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Section: Introductionmentioning

confidence: 99%