Abstract
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.
Highlights
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder affecting 4–21% of reproductive age women depending on the diagnostic criteria used [1, 2]
Two genome-wide association studies (GWAS) for PCOS were conducted in Han Chinese populations in which researchers identified 15 risk single nucleotide polymorphisms (SNPs) from 11 loci: thyroid adenoma associated (THADA), luteinising hormone/choriogonadotropin receptor (LHCGR), follicle-stimulating hormone receptor (FSHR), chromosome 9 open reading frame 3 (C9orf3), differentially expressed in normal and neoplastic cells (DENN) domaincontaining 1A (DENND1A), Yes-associated protein 1 (YAP1), Rasrelated protein 5B (RAB5B), insulin receptor (INSR), TOX transcriptional coactivator of the p300/CBP-mediated transcription complex (TOX3), SUMO1 pseudogene 1/zinc finger protein 217 (SUMO1P1/ZNF217) and high mobility group AT-hook 2 (HMGA2) [10, 11]
There was a significant difference in body mass index (BMI) between fat mass and the obesity gene (FTO) variant rs1421085 genotypes in the PCOS group (p=0.041, Table 2), and the difference was detected between C/C and T/T using Kruskal–Wallis pairwise comparison
Summary
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder affecting 4–21% of reproductive age women depending on the diagnostic criteria used [1, 2]. Two genome-wide association studies (GWAS) for PCOS were conducted in Han Chinese populations in which researchers identified 15 risk SNPs from 11 loci: thyroid adenoma associated (THADA), luteinising hormone/choriogonadotropin receptor (LHCGR), follicle-stimulating hormone receptor (FSHR), chromosome 9 open reading frame 3 (C9orf3), differentially expressed in normal and neoplastic cells (DENN) domaincontaining 1A (DENND1A), Yes-associated protein 1 (YAP1), Rasrelated protein 5B (RAB5B), insulin receptor (INSR), TOX transcriptional coactivator of the p300/CBP-mediated transcription complex (TOX3), SUMO1 pseudogene 1/zinc finger protein 217 (SUMO1P1/ZNF217) and high mobility group AT-hook 2 (HMGA2) [10, 11] Another large-scale GWAS of a population with European Caucasian ancestry used dense imputation of genotyping to identify six genetic loci associated with PCOS: ErbB2 receptor tyrosine kinase 4/Hairy-related 4 (ERBB4/HER4), YAP1, THADA, follicle-stimulating hormone beta-subunit (FSHβ), double-strand break repair protein (RAD50) and ketopantoate reductase 1 (KRR1) [12]. We had detected the association between MC4R variants rs12970134 and rs17782313 and obese PCOS patients in western Saudi Arabia [24]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
