Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Dec 15;18(1):968.
doi: 10.1186/s13018-023-04447-4.

Correlation between ESR1 and APOE gene polymorphisms and risk of osteonecrosis of the femoral head: a case-control study

Yuan Wang  1   2   3   4 , Xiaoya Ma  1   2   3 , Jinping Guo  1   2   3 , Yujie Li  1   2   3 , Yuyan Xiong  5   6   7
Affiliations

Correlation between ESR1 and APOE gene polymorphisms and risk of osteonecrosis of the femoral head: a case-control study

Yuan Wang et al. J Orthop Surg Res. .

Abstract

Background: Osteonecrosis of the femoral head (ONFH) is a disease with a high disability rate, and genetic factors are closely related to its pathogenesis. This study aimed to investigate the possible correlation between ESR1 and APOE gene polymorphisms and the risk of ONFH.

Methods: In this case-control study, the potential association between three genetic variants (rs2982573 C < T, rs10872678 C < T, and rs9322332 A < C) of the ESR1 gene and two genetic variants (rs7259620 A < G and rs769446 C < T) of the APOE gene with the risk of ONFH was investigated. Correlations between gene polymorphisms and ONFH risk were assessed using logistic regression analysis, with calculation of odds ratios (ORs) and 95% confidence intervals (CIs).

Results: The overall analysis demonstrated that rs9322332 in the ESR1 gene exhibited a correlation with a decreased risk of ONFH under the homozygous (AA vs.CC: OR = 0.69, 95% CI [0.53-0.90], p = 0.006), dominant (CA + AA vs. CC: OR = 0.70, 95% CI [0.54-0.90], p = 0.006), and additive (OR = 0.79, 95% CI [0.66-0.95], p = 0.013) models. The stratification analysis revealed that rs9322332 was linked to a lower risk of ONFH in subgroups characterized by individuals aged over 51 years and non-smokers. Nevertheless, there were no notable correlations found between ESR1 rs2982573 and rs10872678, as well as APOE rs7259620 and rs769446, with the risk of ONFH.

Conclusion: ESR1-rs9322332 is closely linked to a decreased risk of ONFH, thereby enhancing our understanding of the relationship between gene polymorphisms and ONFH.

Keywords: ESR1, APOE; Gene polymorphisms; Osteonecrosis of the femoral head; Risk.

PubMed Disclaimer

Conflict of interest statement

The authors declare that there are no conflicts of interest.

Figures

Fig. 1
Fig. 1
Flowchart illustrating the analysis of the association between ESR1 and APOE gene polymorphisms and ONFH
Fig. 2
Fig. 2
Forest maps of associations between ESR1 and APOE gene polymorphisms and ONFH in different genetic models
Fig. 3
Fig. 3
Dendrogram A and circle graph B of SNP-SNP interaction among ESR1 and APOE gene polymorphisms by MDR method
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Che Z, Song Y, Zhu L, Liu T, Li X, Huang L. Emerging roles of growth factors in osteonecrosis of the femoral head. Front Genet. 2022;13:1037190. doi: 10.3389/fgene.2022.1037190. - DOI - PMC - PubMed
    1. Zhao D, Zhang F, Wang B, Liu B, Li L, Kim SY, et al. Guidelines for clinical diagnosis and treatment of osteonecrosis of the femoral head in adults (2019 version) J Orthop Translat. 2020;21:100–110. doi: 10.1016/j.jot.2019.12.004. - DOI - PMC - PubMed
    1. Quaranta M, Miranda L, Oliva F, Aletto C, Maffulli N. Osteotomies for avascular necrosis of the femoral head. Br Med Bull. 2021;137(1):98–111. doi: 10.1093/bmb/ldaa044. - DOI - PubMed
    1. Migliorini F, Maffulli N, Baroncini A, Eschweiler J, Tingart M, Betsch M. Prognostic factors in the management of osteonecrosis of the femoral head: a systematic review. Surgeon. 2023;21(2):85–98. doi: 10.1016/j.surge.2021.12.004. - DOI - PubMed
    1. Migliorini F, Maffulli N, Eschweiler J, Tingart M, Baroncini A. Core decompression isolated or combined with bone marrow-derived cell therapies for femoral head osteonecrosis. Expert Opin Biol Ther. 2021;21(3):423–430. doi: 10.1080/14712598.2021.1862790. - DOI - PubMed

LinkOut - more resources