Background 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. Methods 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. Results Rs12970134 and rs17782313 are significantly associated with body mass index (BMI, kg/m 2 , 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/m 2 ) 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. Conclusions 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/m 2 ) PCOS patients may demonstrate a poor prognosis for this group.
Polycystic ovary syndrome (PCOS) is one of the most prevalent endocrine diseases affecting women of reproductive age. The pathogeny of PCOS is still not completely understood, but one contributing factor that has been proposed is anti-Müllerian hormone (AMH). There is currently no clear correlation between levels of AMH and incidence of PCOS in Saudi Arabian patients. The goal of this study was to determine the threshold of AMH and correlate it with PCOS clinical features to facilitate a proper diagnosis for PCOS. In this case-control study, we recruited 79 PCOS women and 69 normal ovulatory women; PCOS patients were diagnosed according to the Rotterdam criterion. On days 2–4 of the menstrual cycle, transvaginal/abdominal ultrasound was performed and serum levels of AMH, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) were measured for all participants. The receiver operating characteristic curve (ROC) was used to determine the AMH diagnostic cut-off at 3.19 ng/mL, with 72% sensitivity and 70% specificity; AMH > 3.19 ng/mL was significantly correlated with PCOS. High AMH levels were correlated with age at menarche, polycystic ovarian morphology (PCOM), and oligo/amenorrhea. Serum AMH is a promising diagnostic marker of ovarian dysfunction in PCOS patients especially in cases in which the evaluation of PCOM was complicated.
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