Daghestani Maha H, Daghestani Mazin H, Daghistani Mamoon H, Bjørklund Geir, Chirumbolo Salvatore, Warsy Arjumand
Department of Zoology, College of Science. Director of Central Laboratory, Female Center for Scientific & Medical Colleges, King Saud University, Riyadh, Saudi Arabia.
Department of Obstetrics and Gynecology, Umm Al-Qura University, P.O. Box 424, Makkah, 21955, Saudi Arabia.
BMC Womens Health. 2019 Jan 11;19(1):10. doi: 10.1186/s12905-018-0706-x.
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 also associated with leptin receptor (LEP-R) deficiency, several studies have attempted to link LEP-R gene polymorphisms to PCOS.
The 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).
Waist/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.
Despite 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.
多囊卵巢综合征（PCOS）在沙特女性中频繁发生，常与肥胖、胰岛素抵抗、低促性腺激素性性腺功能减退和不孕相关。由于这些特征也与瘦素受体（LEP - R）缺乏有关，多项研究试图将LEP - R基因多态性与PCOS联系起来。
本研究旨在评估LEP - R基因多态性（rs1137101）与受PCOS影响的沙特女性患者中主要的肥胖相关代谢参数之间的可能关联。对122名在沙特阿拉伯麦加门诊就诊并被诊断为PCOS的沙特女性受试者进行了队列研究。检测血清样本中的代谢参数，包括血脂谱、葡萄糖、瘦素、胃饥饿素和胰岛素以及肥胖标志物（BMI、腰臀比、HOMA），并与130名健康女性志愿者（对照组）的值进行比较。两组（PCOS组和对照组）均通过扩增（PCR）后进行DNA测序对瘦素受体基因中rs1137101多态性进行基因分型。
腰臀比（W/H比）、血清瘦素水平和甘油三酯似乎与PCOS相关，但除了腰臀比（AA对GG，p = 0.009）外，对照组也存在这种关联。本研究结果未发现瘦素基因多态性位点rs1137101与PCOS之间存在显著关联。在对照组中，GG基因型的BMI、W/H比、瘦素、胰岛素和HOMA - IR显著高于AA基因型。
尽管之前有关于rs1137101、血清瘦素水平和PCOS之间关系的推测，但我们的研究未显示出任何统计学关联，可能需要进一步研究，或许还应评估肥胖患者，以便更好地阐明这一问题。
