Polycystic ovary syndrome (PCOS) is a common endocrine disorder causing infertility in reproductive-age women. The cause of PCOS is not fully understood but it is thought to be influenced by environmental and genetic factors. Obesity is greatly related to PCOS and its reduction is one of the major aims in treating PCOS. Melanocortin 4 receptor (MC4R) gene polymorphisms were detected to be associated with different levels of obesity. Therefore, we aimed to determine the genotype and allele frequency of MC4R variants rs12970134 (A/G) and rs17782313 (C/T) in PCOS and investigate their association with PCOS and its clinical variables. A case-control study was conducted on 189 women, consisting of 95 PCOS cases and 94 controls. Genotyping was performed by real-time polymerase chain reaction (PCR) using TaqMan™ Genotyping assays. Quantitative data were presented as (median ± interquartile range (IQR) whereas qualitative data were presented as frequencies. The chi-squared test was used to observe the difference between SNPs within the study groups (PCOS and control subjects). Multinomial logistic regression was used to test the risk of obesity and development of PCOS considering p < 0.05 is statistically significant. Rs12970134 and rs17782313 are significantly associated with body mass index (BMI, kg/m2, p < 0.0001) in PCOS women but not associated with PCOS itself. Risk alleles in our population are A in rs12970134 and C in rs17782313 that are associated with high BMI (> 30 kg/m2) in obese women with PCOS (OR = 1.348, p = 0.002 and OR = 1.364, p = 0.002 respectively) in the homozygous state. In addition, we found that the other genotypes for non-obese PCOS group, AG/GG for rs12970134 and CT/TT for rs17782313, are associated with hirsutism, loss of hair, hyperandrogenism and anti-Müllerian hormone in PCOS. These findings demonstrate that MC4R single nucleotide polymorphisms, rs12970134 and rs17782313, are correlated with elevated BMI in PCOS but are not causative factors for PCOS among women in the western region of Saudi Arabia. Moreover, the reverse genotypes are associated with major clinical variants in non-obese (< 30 kg/m2) PCOS patients may demonstrate a poor prognosis for this group.

中文翻译：

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MC4R变体rs12970134和rs17782313与沙特阿拉伯西部地区的肥胖多囊卵巢综合征患者相关

多囊卵巢综合征（PCOS）是一种常见的内分泌失调，可导致育龄妇女不育。尚未完全理解PCOS的原因，但认为它受环境和遗传因素的影响。肥胖与PCOS密切相关，减少肥胖是治疗PCOS的主要目的之一。发现黑皮质素4受体（MC4R）基因多态性与肥胖症的不同水平有关。因此，我们旨在确定PCOS中MC4R变体rs12970134（A / G）和rs17782313（C / T）的基因型和等位基因频率，并研究它们与PCOS的关联及其临床变量。对189名妇女进行了一项病例对照研究，其中包括95例PCOS病例和94例对照。使用TaqMan™基因分型分析，通过实时聚合酶链反应（PCR）进行基因分型。rs12970134的AG / GG和rs17782313的CT / TT与PCOS中的多毛症，脱发，雄激素过多和抗苗勒氏激素有关。这些发现表明，MC4R单核苷酸多态性rs12970134和rs17782313与PCOS中BMI升高相关，但不是沙特阿拉伯西部地区女性PCOS的致病因素。此外，在非肥胖（<30 kg / m2）的PCOS患者中，反向基因型与主要的临床变异有关，可能预示了该组患者的不良预后。与PCOS的BMI升高相关，但不是沙特阿拉伯西部地区妇女PCOS的致病因素。此外，在非肥胖（<30 kg / m2）的PCOS患者中，反向基因型与主要的临床变异有关，可能预示了该组患者的不良预后。与PCOS的BMI升高相关，但不是沙特阿拉伯西部地区妇女PCOS的致病因素。此外，在非肥胖（<30 kg / m2）的PCOS患者中，反向基因型与主要的临床变异有关，可能预示了该组患者的不良预后。