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The effect of ITLN1, XCL2 and DOT1L variants on knee osteoarthritis risk in the Han population

  • Orthopaedic Surgery
  • Published:
Archives of Orthopaedic and Trauma Surgery Aims and scope Submit manuscript

Abstract

Background

Knee osteoarthritis (KOA) is a complex multifactorial disease, in which genetic factors account for 50% of the risk of osteoarthritis. This study investigated the association between ITLN1, XCL2 and DOT1L variants and KOA risk in the Han population.

Methods

We applied Agena MassARRAY technology platform to genotype five single-nucleotide polymorphisms (SNPs) in 710 KOA patients and 709 controls. The correlation between ITLN1, XCL2 and DOT1L SNPs (rs2274908, rs4282797, rs4301615 and rs3815308) and KOA risk was calculated by logistic regression analysis, with odds ratio (OR) and 95% confidence intervals (CIs). Also, the relationship between genotypes at these different loci and clinical parameters (White blood cell, Eosinophil ratio, Neutrophil count, Eosinophil count, Monocyte ratio and Monocyte count) among patients and controls was analyzed.

Results

In the overall results, rs2274908, rs4301615 and rs3815308 were correlated with KOA susceptibility. After gender stratification analysis, ITLN1 rs2274908 and XCL2 rs4301615 were related to an increased risk of KOA in males, and ITLN1 rs2274908 and DOT1L rs3815308 were related to an increased risk of KOA in females. After age stratification analysis, ITLN1 rs2274908 and XCL2 rs4301615 were correlated with an increased risk of KOA in people aged > 65 year old. After smoking stratification analysis and drinking stratification analysis, ITLN1 rs2274908, XCL2 rs4301615 and DOT1L rs3815308 were still associated with the risk of KOA.

Conclusion

In short, ITLN1 rs2274908, XCL2 rs4301615 and DOT1L rs3815308 were related to KOA risk in the Han population, which was helpful to clarify the pathogenesis of these sites in KOA.

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Acknowledgements

The authors thank all participants and volunteers of the Second Hospital of Tangshan in this study.

Funding

The study was supported by Natural Science Foundation of Xinjiang Uygur Autonomous Region (2020D01C142) and the Key Research and Development Project of Xinjiang Uygur Autonomous Region (2021B03006-1).

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Author notes

  1. Cheng Wang and Ruichun Zhang are co-first authors.

Authors and Affiliations

  1. Department of Massage, Traditional Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region, No. 116, Huanghe Road, Urumqi, 830000, Xinjiang, China

    Cheng Wang & Ruichun Zhang

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  1. Cheng Wang
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Contributions

RZ conceived and designed the study. CW took part in the data search and selection of data, analyzed the data, and wrote the manuscript. CW and RZ contributed to the subject screening and the collection and preparation of control DNA samples. All authors have read and approved the final manuscript.

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Correspondence to Ruichun Zhang.

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Conflict of interest

The authors declare that they have no competing interests.

Ethical approval and consent to participate

Written informed consent was obtained from all participants prior to their participation. The research protocol was approved by the Ethics Committee of Traditional Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region. The ethical approval was consistent with the standards of the Declaration of Helsinki.

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Wang, C., Zhang, R. The effect of ITLN1, XCL2 and DOT1L variants on knee osteoarthritis risk in the Han population. Arch Orthop Trauma Surg 143, 4821–4831 (2023). https://doi.org/10.1007/s00402-023-04799-w

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