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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.
CONCLUSIONS: ESR1-rs9322332 is closely linked to a decreased risk of ONFH, thereby enhancing our understanding of the relationship between gene polymorphisms and 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.
CONCLUSIONS: ESR1-rs9322332 is closely linked to a decreased risk of ONFH, thereby enhancing our understanding of the relationship between gene polymorphisms and ONFH.
摘要：
背景：股骨头坏死（ONFH）是一种高致残率的疾病，遗传因素与其发病机制密切相关。本研究旨在探讨ESR1和APOE基因多态性与ONFH发病风险的相关性。
方法：在本病例对照研究中，三种遗传变异之间的潜在关联(rs2982573C结果：总体分析表明，ESR1基因中的rs93223232与纯合子下的ONFH风险降低相关（AA与CC：OR=0.69，95%CI[0.53-0.90]，p=0.006),占优势(CA+AAvs.CC：OR=0.70，95%CI[0.54-0.90]，p=0.006),和添加剂(OR=0.79，95%CI[0.66-0.95]，p=0.013)型号。分层分析显示，rs93223232与以51岁以上和不吸烟者为特征的亚组的ONFH风险较低有关。然而，ESR1rs2982573和rs10872678以及APOErs7259620和rs769446与ONFH的风险之间没有发现显著的相关性。
结论：ESR1-rs93223232与ONFH的风险降低密切相关，从而增强我们对基因多态性与ONFH之间关系的理解。
方法：在本病例对照研究中，三种遗传变异之间的潜在关联(rs2982573C
结论：ESR1-rs93223232与ONFH的风险降低密切相关，从而增强我们对基因多态性与ONFH之间关系的理解。
