Association of Exon 1 Variants of NOEY2 Gene with Poly cystic Ovary Syndrome (PCOS) and Diabetes

Abstract

Polycystic ovary syndrome (PCOS) is the cause of 75% of infertility due to lack of ovulation. This study aimed to investigate the possible association between exon 1 polymorphisms of the NOEY2 gene in women with PCOS and diabetes. Material & Methods: This study was conducted on 240 blood samples (1 cc each) from women in four groups: polycystic, diabetes, polycysticdiabetes, and control. Genomic DNA extraction was performed using the extraction kit, according to the protocol. A primer pair was designed and synthesized for the exon 1 sequence of the NOEY2 gene. After gene amplification by polymerase chain reaction (PCR) and evaluation of band quality, Sanger sequencing was performed on PCR products. Sequencing results were analyzed using Chromas, GeneRunner, and Alignment software, and statistical calculations were performed by SNPAlyze, SPSS, and Web-Assotest program. (Ethic code: IR.IAU.TON.REC.137031) Findings: Sequence analysis confirmed two polymorphisms: 5'UTR c.156G> A polymorphism was observed in exon 1 of NOEY2 and second polymorphism of 5'UTR c.207+76 G>A, 76 nucleotides farther from exon 1 and in the intron region of NOEY2 gene. Statistical analysis showed a statistically significant difference between 5'UTR c.156G> A and susceptibility to PCOS and diabetes. Discussion & Conclusion: No report on this region was available in genetic databases and this polymorphism was reported for the first time in the present study. Bioinformatics studies showed that this polymorphism can affect the affinity to bind in certain transcription factors by allelic changes due to its location in the CTCF overlapping promoter region.