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Single nucleotide polymorphisms of TRAF2 and TRAF5 gene in ankylosing spondylitis: a case–control study

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Abstract

Objective To investigate the role of eight locus polymorphisms of tumor necrosis factor receptor-associated factor 2 (TRAF2) and TRAF5 gene and their interaction in the susceptibility to ankylosing spondylitis (AS) in Chinese Han population. Methods Eight single nucleotide polymorphisms (SNPs) of TRAF2 (rs3750511, rs10781522, rs17250673, rs59471504) and TRAF5 (rs6540679, rs12569232, rs4951523, rs7514863) gene were genotyped in 673 AS patients and 687 controls. Results The SNPs of TRAF2 and TRAF5 do not indicate a correlation with the susceptibility of AS in Chinese Han population. Genotype frequencies of rs3750511 were statistically significant in females between patients and controls. The allele frequencies of rs10781522 and genotype frequencies of rs3750511 were statistically significant between groups of different diseases activity. One three-locus model, TRAF2 (rs10781522, rs17250673) and TRAF5 (rs12569232), had a maximum testing accuracy of 52.67% and a maximum cross-validation consistency (10/10) that was significant at the level of P = 0.0001, after determined empirically by permutation testing. As to environmental variables, only marginal association was found between sleep quality and AS susceptibility. Conclusion TRAF2 rs3750511 polymorphism may be associated with the susceptibility and severity of AS. Besides, the interaction of TRAF2 and TRAF5 genes may be associated with AS susceptibility, but many open questions remain.

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Acknowledgements

We are deeply grateful to all the patients and healthy controls who participated in our study. And we would like to acknowledgement the national natural science foundation of China for its financial support.

Funding

The study was sponsored by the National Natural Science Foundation of China (82073655 and 81773514) and the Scientific Research Level upgrading Project of Anhui Medical University (2020xkjT006).

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Author notes

  1. Shanshan Xu, Jiangping Kong, Li Huang: contributed equally to this work and should be considered co-first author.

Authors and Affiliations

  1. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, 230032, Anhui, China

    Shanshan Xu, Jiangping Kong, Huimin Xie, Feier Wang, Tingting Zhou, Lingxiang Yu & Faming Pan

  2. Key Laboratory of Major Autoimmune Diseases, Anhui Medical University, 81 Meishan Road, Hefei, 230032, Anhui, China

    Shanshan Xu, Jiangping Kong, Huimin Xie, Feier Wang, Tingting Zhou, Lingxiang Yu & Faming Pan

  3. Anhui Medical College, 387 Wuhu Road, Hefei, 230032, Anhui, China

    Li Huang

  4. Department of Toxicology, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, 230032, Anhui, China

    Xiaoyi Zhang

  5. Department of Rheumatism and Immunity, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, Anhui, China

    Shengqian Xu

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Xu, S., Kong, J., Huang, L. et al. Single nucleotide polymorphisms of TRAF2 and TRAF5 gene in ankylosing spondylitis: a case–control study. Clin Exp Med 21, 645–653 (2021). https://doi.org/10.1007/s10238-021-00719-7

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