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GENETIC TESTING AND MOLECULAR BIOMARKERS
GENETIC TESTING AND MOLECULAR BIOMARKERS
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Background: Obesity and insulin resistance are common features accompanying polycystic ovary syndrome
(PCOS).
Aim: To analyze the impact of obesity on the expression of the visfatin and sterol regulatory element-binding
protein (SREBP)-1c genes among a group of Egyptian women with PCOS, and to assess their suitability as
PCOS biomarkers.
Subject and methods: Seventy healthy women (control group) (35 nonobese and 35 obese) and 140 women
with PCOS (70 nonobese and 70 obese) were enrolled in this study. The visfatin and SREBP-1c genes’
expression analyses was performed via real-time polymerase chain reaction. Serum visfatin and SREBP-1c
protein levels were measured with ELISA kits.
Results: Among PCOS patients, upregulation of visfatin and SREBP-1c expression was observed. We did not
identify significant differences between the obese and nonobese PCOS patients nor between obese and nonobese
controls. The mRNA expression levels of both genes were significantly positively correlated with their
serum protein levels, as well as with fasting serum insulin levels, homeostatic model assessments of insulin
resistance (HOMA-IR), luteinizing hormone (LH) ratios, LH/follicular stimulating hormone ratios, total testosterone,
and free androgens. We observed significant negative correlations between visfatin and SREBP-1c
expression levels and sex hormone binding globulin levels in all studied groups. Receiver operating characteristic
curve analyses revealed that combining the visfatin and SREBP-1c expression data increased the
sensitivity (95.92%) and specificity (93.2%) for PCOS diagnoses.
Conclusion: Upregulation of visfatin and SREBP-1c was observed among PCOS patients. These genes may
play a role in the pathogenesis of PCOS independent of obesity. Combined visfatin and SREBP-1c analyses
could be used as a noninvasive biomarker for PCOS.
Keywords: visfatin, SREBP-1c, expression, PCOS
Introduction
Polycystic ovary syndrome (PCOS) is a heterogeneous,
heritable endocrinopathy disorder, affecting 4–
8% of women during their reproductive period (Goodarzi
et al., 2011). Environmental factors including toxins, geography,
socioeconomic status, diet, and nutrition play an important
role in the expression of PCOS genetic traits and may
also trigger or exacerbate PCOS pathology (De Melo et al.,
2015). PCOS is characterized by hyperandrogenism, chronic
anovulation, and polycystic ovaries confirmed by ultrasonography
(The Rotterdam ESHRE-ASRM-Sponsored PCOS
Consensus Workshop,
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