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Individuals with T-786C and G894T genotypes of eNOS in Chinese Han population have an increased risk of developing rheumatoid arthritis

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Abstract

Several genetic polymorphisms in endothelial nitric oxide synthase (eNOS) are associated with the pathogenesis of rheumatoid arthritis (RA). This study explored the effect of eNOS gene polymorphism on genetic susceptibility of RA in Chinese Han population. Patients with RA (n=236) and healthy volunteers (n=240) were enrolled in this study. Genotyping of eNOS T-786C and G894T polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism. Genotyping and gene frequency distribution of eNOS T-786C and G894T polymorphisms were evaluated. RA patients showed higher frequencies of mutated TC and CC genotypes of eNOS T-786C polymorphism and mutated GT and TT genotypes of G894T polymorphism than healthy controls. More specifically, the genotype frequencies of eNOS T-786C polymorphism were significantly different between RA patients and controls. The expression of eNOS was enhanced in RA patients compared with controls. Further, eNOS expression was enhanced after C was replaced with T in T-786C polymorphism in the promoter. Overall, the individuals with mutations in T-786C and G894T of eNOS may have an increased risk of RA, and T-786C and G894T polymorphisms of eNOS are associated with genetic susceptibility of RA in Chinese Han population.

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Acknowledgements

The Project was supported by the Provincial Nature Science fund of Fujian (no: 2021J01121494) and Fujian Provincial Health Technology Project (Youth Scientific Research Project, No. 2018-2-29).

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Authors

Contributions

SPL and XL is the guarantor of integrity of the entire study. SPL and XL contributed to the study concepts, study design. SPL contributed to the definition of intellectual content. YPW contributed to the literature research. YPW and LAQ contributed to the manuscript preparation. SPL and XL contributed to the manuscript editing and review. SPL, YPW and LAQ contributed to the clinical studies. SPL and DQL contributed to the experimental studies and data acquisition. SPL and DQL contributed to the data analysis and statistical analysis. All authors read and approved the final manuscript.

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Correspondence to XIN LIU.

Additional information

Corresponding editor: Durgadas P. Kasbekar

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LIN, S., LIN, D., QIU, L. et al. Individuals with T-786C and G894T genotypes of eNOS in Chinese Han population have an increased risk of developing rheumatoid arthritis. J Genet 102, 17 (2023). https://doi.org/10.1007/s12041-022-01400-y

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  • DOI: https://doi.org/10.1007/s12041-022-01400-y

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