Abstract
BackgroundPolycystic ovarian syndrome (PCOS) is of frequent occurrence in Saudi females and is often associated with obesity, insulin resistance, hypogonadotropic hypogonadism, and infertility. Since these features are also associated with leptin receptor (LEP-R) deficiency, several studies have attempted to link LEP-R gene polymorphisms to PCOS.MethodsThe purpose of this study is to assess the possible association of LEP-R gene polymorphism (rs1137101) with the main obesity-linked metabolic parameters in Saudi female patients affected by PCOS. A cohort of 122 Saudi female subjects, attending the outpatient’s clinics at Makkah, Saudi Arabia and diagnosed with PCOS was investigated. Metabolic parameters in serum samples, including lipidogram, glucose, leptin, ghrelin and insulin and obesity markers (BMI, W/H ratio, HOMA) were assayed and compared with values from 130 healthy female volunteers (controls). The genotyping of rs1137101 polymorphism in the leptin receptor gene by amplification (PCR) followed by DNA sequencing, was conducted in both groups (PCOS and controls).ResultsWaist/hip ratio (W/H ratio), leptin serum levels and triglycerides appeared to be associated with PCOS but, aside from W/H ratio (AA s GG p = 0.009), this association also occurred for controls. No significant association in the leptin gene polymorphic locus rs1137101 with PCOS was seen in the results of the present study. In the control group, BMI, W/H ratio, leptin, Insulin, and HOMA-IR were significantly higher in the GG genotype compared to AA.ConclusionDespite previous suggestion about a relationship between rs1137101, serum leptin levels, and PCOS, our studies do not show any statistical association and further investigations; possibly by also evaluating obese patients should be needed to elucidate this issue better.
Highlights
Leptin receptor (LEP-R; OB-R; CD295), which is encoded by the LEPR gene, is a single-trans-membrane domain protein receptor of the cytokine receptor family [1] that binds the hormone leptin [2]
We present our results of association studies between rs1137101 polymorphism and Polycystic ovarian syndrome (PCOS) and the effect of the polymorphism on demographic and metabolic profile in healthy females and those suffering from PCOS
The two groups matched for their ages and body mass index (BMI) but showed a significant difference in the Waist/hip ratio (W/H) ratio, where the PCOS patients had a significantly higher ratio compared to the control group
Summary
Leptin receptor (LEP-R; OB-R; CD295), which is encoded by the LEPR gene, is a single-trans-membrane domain protein receptor of the cytokine receptor family [1] that binds the hormone leptin [2]. A statistically significant association was found between polycystic ovarian syndrome (PCOS), obesity and leptin, where the overweight and obese women with PCOS had higher serum levels of leptin compared with controls, though they have no association between PCOS and other adipokines, such as resistin and adiponectin [17] This should prompt the researcher to deeply investigate this issue in the influence of leptin gene polymorphism. Polycystic ovarian syndrome (PCOS) is of frequent occurrence in Saudi females and is often associated with obesity, insulin resistance, hypogonadotropic hypogonadism, and infertility. Since these features are associated with leptin receptor (LEP-R) deficiency, several studies have attempted to link LEP-R gene polymorphisms to PCOS
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