STUDY ASSOCIATION OF THE ANKK1 GENE POLYMORPHISMS AND D2 DOPAMINE RECEPTOR GENE EXPRESSION WITH INFERTILITY AMONG SOME OF IRAQI FEMALES

Abstract

       Infertility is the most common endocrine disease occurring in women of reproductive age. This study aimed to clarify the effect of ANKK1 polymorphism in DRD2 gene expression and altered dopamine concentrations with infertility in women and to study their correlation with some biochemical parameters. The study was conducted at the Institute of Genetic Engineering and Biotechnology for Postgraduate Studies - University of Baghdad from January 2022 to October 2023. The patients were taken from Baghdad's Kamal Al-Samarrai Infertility Treatment Hospital. The study included (50) patients and (50) controls. Methods included biochemical examinations, including serum concentrations of Dopamine (DA), Luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin were measured. The RNA and DNA were extracted from whole fresh blood. The concentration and Purity of DNA and RNA Based on a nanodrop device were performed, then converted to cDNA to measure the level of gene expression for DRD2, a single-nucleotide polymorphism ANKK1 rs1800497 (SNP) was genotyped. In this study, the results showed a significant decrease in Dopamine levels in infertile Women in comparison to the control group (P< 0.01). In addition, the analysis of hormone levels of LH, FSH, and Prolactin (PRL) in infertile females showed a highly significant increase in PRL and LH compared to the control group (P≤0.01) and a non-significant difference in the level of FSH. The fold expression of DRD2 was down-regulated in patients, whereas in the control group, it was up-regulated. Genotype Results of ANKK1 rs1800497 were observed to have no significantly different frequencies in the homozygous GG and mutant AA genotypes. In contrast, it has significantly different frequencies in the heterozygous GA in patients compared to the control group. Consequently, Assessing the impact and correlation between ANKK1 rs1800497 variation and the expression of the DRD2 gene as a risk of infertility showed a significant negative correlation between polymorphism in ANKK1gene with folding expression for DRD2.

Key words: D2 dopamine receptor, ANKK1 polymorphism ,infertility, Dopamine ,DRD2 gene expression