Genetic association between Q192R polymorphism in the paraoxonase 1 gene and female infertility in the Saudi women: Validated using DNA sequencing analysis

Objective: Infertility may also describe the inability to conceive whether a woman continues to have miscarriages. Female infertility is a complex condition which can suffer from a range of conditions and onethird of all infertility cases occur in women. Obesity is correlated by various complex pathways with infertility among women. Paraoxonase (PON) is an antioxidant and oxidant enzyme that plays an important role in a variety of conditions, including inflammation, oxidative stress, and lipid metabolism. Paraoxonase1 (PON1) gene variants can influence oxidative stress and thus female infertility susceptibility. However, no molecular studies have been conducted in Saudi infertile women and the Q192R polymorphism. The purpose of this study was to investigate into the relationship between the Q192R polymorphism in the PON1 gene and the risk of infertility in Saudi women. Study design: This case-control study was carried out with 122 female infertile women and 100 fertile women. Genomic DNA was extracted from 222 participants, quantified performed polymerase chain reaction, agarose gel run, and RFLP analysis. Finally, Sanger sequencing was validated in 10% of the samples obtained. Excel was used to collect clinical and genomic data, which was then analyzed statistically.Results: Anthropmetric and clinical data was assessed using both the cases and control women (p < 0.05). Hardy Weinberg equilibrium was in accordance within the Q192R polymorphism (p = 0.001). Q192R polymorphism confirms the allele (p = 0.003) and genetic association (QR vs QQ; p = 0.001) with different mode of inheritances including dominant and co-dominant models (p = 0.003). ANOVA analysis revealed a positive association between weight and Q192R polymorphism (p = 0.04).Conclusion: This study concludes as Q192R polymorphism was positively associated in this case-control study performed in the Saudi women diagnosed with female infertility. However, obesity factor might also be playing a role in the infertile women. (c) 2023 The Author(s). Published by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).