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Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population

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Abstract

Purpose

Alcohol-induced osteonecrosis femoral head necrosis (ONFH) is a disease that seriously affects human health. Abnormal expression of L3MBTL3/PTPN9 gene can cause a variety of human diseases. The purpose of this study is to investigate the effect of L3MBTL3/PTPN9 gene polymorphism on the susceptibility of alcohol-induced ONFH in Chinese Han population.

Methods

A total of 308 alcohol‐induced ONFH patients and 425 healthy controls were enrolled in this case–control study. Alleles, genotypes, genetic models, haplotypes, and multifactor dimensionality reduction analyses (MDR) based on age-corrected by using odds ratio (OR) and 95% confidence interval (CI) were performed.

Results

Our result revealed rs2068957 in the L3MBTL3 gene increased the risk of alcohol ONFH under the recessive model after correction. Besides, we also found that rs75393192 in the PTPN9 gene was a protective site in stratification over 40 years of age and stage. In stratified analysis of necrotic sites, we only found that rs2068957 was associated with increased susceptibility of alcohol-induced ONFH under the co-dominant model and recessive model. Haplotype “GC” in the block (rs76107647|rs10851882 in PTPN9 gene) significantly decreased the susceptibility of alcoholic ONFH.

Conclusions

Our results provide evidence that L3MBTL3/PTPN9 polymorphisms are associated with alcohol-induced ONFH risk in Chinese Han population.

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Data availability

The datasets used or analyzed during the current study are available from the corresponding author on reasonable request.

Code availability

Not applicable.

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Acknowledgements

We are very grateful to all the participants in this study.

Funding

This study was funded by the National Natural Science Foundation of China General Program (No. 81860645) and supported by the hospital-level youth fund project of Hainan People’s Hospital (No. QN202010).

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Authors and Affiliations

Authors

Contributions

Xiang-Zhou Zeng and Jun Xiong: conceived and designed the experiments.

Jun Xiong, Yi Niu, and Wei Liu: performed the experiments.

Jun Xiong and Fan Zeng: analyzed the data.

Jian-Fei Cheng: contributed reagents/materials/analysis tools.

Shi-Qiang Chen: prepared the figures and/or tables.

Xiang-Zhou Zeng and Jun Xiong: drafted the work or revised it critically for important content.

Corresponding author

Correspondence to Xiang-Zhou Zeng.

Ethics declarations

Ethics approval

This study was approved by the ethics committee of the Hainan Affiliated Hospital of Hainan Medical University. Prior to the questionnaire and blood collection, all subjects signed the informed consent.

Consent to participate

All subjects were Han people who lived in and around Haikou, Hainan Province, China.

Consent for publication

All authors have read and approved the manuscript.

Conflict of interest

The authors declare no competing interests.

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Jun Xiong and Yi Niu are co-first authors.

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Xiong, J., Niu, Y., Liu, W. et al. Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population. Neurol Sci 43, 2823–2830 (2022). https://doi.org/10.1007/s10072-021-05486-7

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  • DOI: https://doi.org/10.1007/s10072-021-05486-7

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