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

Alshammary, Amal F.

doi:10.1016/j.jksus.2023.102567

Cited by 3 publications

(1 citation statement)

References 31 publications

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“…In contrast, the presence of the arginine variant at position 192 contributes to elevate the levels of LDL, triglycerides, and total cholesterol, thereby increasing susceptibility to coronary artery disease [25]. In 2023, Alshammary et al [26] revealed a correlation between the PON1 Q192R polymorphism and female infertility in Saudi women. Likewise, Fekih et al (2017) demonstrated an association between PON1 L55M and Q192R variants and the development of diabetic nephropathy in individuals with type 1 diabetes [27].…”

Section: Introductionmentioning

confidence: 99%

Structural Characteristics of PON1 with Leu55Met and Gln192Arg Variants Influencing Oxidative-Stress-Related Diseases: An Integrated Molecular Modeling and Dynamics Study

M.,

V.,

Ahmad

et al. 2023

Medicina

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Background and Objectives: PON1 is a multi-functional antioxidant protein that hydrolyzes a variety of endogenous and exogenous substrates in the human system. Growing evidence suggests that the Leu55Met and Gln192Arg substitutions alter PON1 activity and are linked with a variety of oxidative-stress-related diseases. Materials and Methods: We implemented structural modeling and molecular dynamics (MD) simulation along with essential dynamics of PON1 and molecular docking with their endogenous (n = 4) and exogenous (n = 6) substrates to gain insights into conformational changes and binding affinity in order to characterize the specific functional ramifications of PON1 variants. Results: The Leu55Met variation had a higher root mean square deviation (0.249 nm) than the wild type (0.216 nm) and Gln192Arg (0.202 nm), implying increased protein flexibility. Furthermore, the essential dynamics analysis confirms the structural change in PON1 with Leu55Met vs. Gln192Arg and wild type. Additionally, PON1 with Leu55Met causes local conformational alterations at the substrate binding site, leading to changes in binding affinity with their substrates. Conclusions: Our findings highlight the structural consequences of the variants, which would increase understanding of the role of PON1 in the pathogenesis of oxidative-stress-related diseases, as well as the management of endogenous and exogenous chemicals in the treatment of diseases.

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Section: Introductionmentioning

confidence: 99%

Structural Characteristics of PON1 with Leu55Met and Gln192Arg Variants Influencing Oxidative-Stress-Related Diseases: An Integrated Molecular Modeling and Dynamics Study

M.,

V.,

Ahmad

et al. 2023

Medicina

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Polymorphisms in the NADPH quinone dehydrogenase 1 (NQ01) gene in Saudi patients with acute myeloid leukemia

Farasani

2023

Journal of King Saud University - Science

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Effect of rs10440833 polymorphism in the CDKAL1 gene on insulin secretion in type 2 diabetes patients

Farzan

2024

Journal of King Saud University - Science

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

Cited by 3 publications

References 31 publications

Structural Characteristics of PON1 with Leu55Met and Gln192Arg Variants Influencing Oxidative-Stress-Related Diseases: An Integrated Molecular Modeling and Dynamics Study

Structural Characteristics of PON1 with Leu55Met and Gln192Arg Variants Influencing Oxidative-Stress-Related Diseases: An Integrated Molecular Modeling and Dynamics Study

Polymorphisms in the NADPH quinone dehydrogenase 1 (NQ01) gene in Saudi patients with acute myeloid leukemia

Effect of rs10440833 polymorphism in the CDKAL1 gene on insulin secretion in type 2 diabetes patients

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