Bakhashab Sherin, Batarfi Asma A, Filimban Najlaa, Bajouh Osama S, Dallol Ashraf, Alqahtani Mohammed H
Biochemistry Department, King Abdulaziz University, P.O. Box 80218, Jeddah 21589, Saudi Arabia.
Centre of Innovation in Personalized Medicine, King Abdulaziz University, P.O. Box 80216, Jeddah 21589, Saudi Arabia.
Bioinformation. 2021 Nov 30;17(11):904-910. doi: 10.6026/97320630017904. eCollection 2021.
Polycystic ovary syndrome (PCOS) is characterised by infertility, obesity, insulin resistance and clinical and/or biochemical signs of hyperandrogenism. Obesity is known to be correlated with PCOS causing ovulatory dysfunction and hormone imbalances. Moreover, fat mass and the obesity gene (FTO) were linked with obesity and PCOS. Therefore, it is of interest to determine the genotype and allele frequency for three FTO variants - rs17817449 (G/T), rs1421085 (C/T) and rs8050136 (A/C) -in western Saudi population. 95 PCOS patients and 94 controls were recruited for this study. The genetic variants were assayed using real-time polymerase chain reaction using TaqMan genotyping assays. The chi-squared test was applied to investigate the difference between single nucleotide polymorphisms on PCOS and control subjects, and binary logistic regression was used to determine the association of FTO variants with PCOS symptoms. Variants rs17817449 and rs1421085 were significantly linked with PCOS susceptibility in the study population. Rs17817449 and rs8050136 were significantly associated with hair loss in the PCOS group. Furthermore, rs1421085 and rs8050136 were associated with a high body mass index (BMI>30 kg/m2). Risk alleles in our population associated with hair loss and elevated BMI in women with PCOS were homozygous C for rs8050136. This data will help in defining the genetic predisposition of PCOS among women in western Saudi Arabia.
多囊卵巢综合征（PCOS）的特征是不孕、肥胖、胰岛素抵抗以及高雄激素血症的临床和/或生化体征。已知肥胖与PCOS相关，会导致排卵功能障碍和激素失衡。此外，脂肪量和肥胖基因（FTO）与肥胖和PCOS有关。因此，确定沙特西部人群中三种FTO变体——rs17817449（G/T）、rs1421085（C/T）和rs8050136（A/C）的基因型和等位基因频率具有重要意义。本研究招募了95例PCOS患者和94例对照。使用TaqMan基因分型检测法通过实时聚合酶链反应对基因变体进行检测。应用卡方检验来研究PCOS患者和对照受试者单核苷酸多态性之间的差异，并使用二元逻辑回归来确定FTO变体与PCOS症状之间的关联。在研究人群中，变体rs17817449和rs1421085与PCOS易感性显著相关。在PCOS组中，rs17817449和rs8050136与脱发显著相关。此外，rs1421085和rs8050136与高体重指数（BMI>30 kg/m2）相关。在我们的人群中，与PCOS女性脱发和BMI升高相关的风险等位基因是rs8050136的纯合C。这些数据将有助于确定沙特阿拉伯西部女性PCOS的遗传易感性。
