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Abstract

The present study aimed to examine the expression of the BMP15 gene and the presence of a specific single-nucleotide polymorphism (SNP), rs377085803 (T/C), in Iraqi women with polycystic ovary syndrome (PCOS). The blood samples were collected from 50 infertile women diagnosed with PCOS and 50  healthy fertile controls attending Al-Elwiya Education Hospital and Al-Kadhimiya Teaching Hospital in Baghdad, Iraq. Reverse transcription quantitative polymerase chain reaction (RT-qPCR), DNA sequencing, and bioinformatics tools were used to analyse BMP15 gene expression and evaluate the potential impact of the SNP on protein structure. BMP15 gene expression was significantly downregulated in PCOS patients compared with controls(expression value: 0.507 vs. 1.000, p=0.001). Significant differences in genotype and allele frequencies were also observed between the two groups, with the heterozygous TC genotype of rs377085803 occurring more frequently in PCOS patients. This SNP is located in the pro region of the BMP15 protein and may influence protein folding and function.  The findings of these results highlight the potential role of BMP15 gene alterations in the pathophysiology of PCOS. Genetic variation in BMP15 may contribute to reproductive dysfunction, although further studies with larger sample sizes are required to confirm these results‎.

Keywords: BMP15 gene, Single-nucleotide polymorphisms (SNPS), rs377085803, PCOS, Molecular docking

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