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并且在中国汉族人群中,这些变异与酒精性股骨头坏死风险相关。

and Variants Were Correlated with Alcohol-Induced Femoral Head Necrosis Risk in the Chinese Han Population.

作者信息

Liu Chang, Liu Xuan, Li Xiaolin

机构信息

Emergency Department, The Second Hospital of Tangshan, Tangshan, 063000, People's Republic of China.

The Fourth Department of Orthopaedics, Tangshan Hongqiao Orthopaedic Hospital, Tangshan, 064100, People's Republic of China.

出版信息

Pharmgenomics Pers Med. 2022 Sep 9;15:797-808. doi: 10.2147/PGPM.S369957. eCollection 2022.

DOI:10.2147/PGPM.S369957
PMID:36110408
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9469939/
Abstract

BACKGROUND

Osteonecrosis of the femoral head (ONFH) is a common joint disease caused by excessive drinking, genetic factors, etc. The purpose of this study was to investigate the association between and variants and alcohol-induced ONFH (AIONFH) risk in the Chinese Han population.

METHODS

This study genotyped 9 selected single nucleotide polymorphisms (SNPs) in 402 males by Agena MassARRAY Assay. By calculating odds ratios (ORs) and 95% confidence intervals (CIs), we assessed the effect of gene polymorphisms on AIONFH occurrence. False-positive report probability (FPRP) analysis and power were also used to evaluate the significant results. Multifactor dimensionality reduction (MDR) software was also utilized to predict the association between the selected SNPs and AIONFH risk.

RESULTS

The overall analysis showed that rs10903966 and rs7320969 were correlated with AIONFH risk. rs4773724 was associated with a reduced risk of AIONFH, while individuals with rs9523981 CC genotype had a higher risk of AIONFH than individuals with the other genotypes among people under 42 years old. Based on stratified analysis of necrotic sites, rs7320969 was related to a decreased risk of AIONFH, while rs10903966 and rs9523981 were related to an increased risk of AIONFH. In addition, rs1008993 and rs7320969 were observed to be linked to AIONFH risk in patients at different clinical stages. Meanwhile, there were significant differences in TC, TG, platelet, ApoA1 and ApoB levels among subjects with different genotypes of rs1008993, rs9523981, rs7320969 and rs59624626. The results of MDR showed that rs11251720 and rs7320969 may play a synergistic role in predicting the risk of AIONFH.

CONCLUSION

rs10903966 and rs9523981 were associated with an increased risk of AIONFH, while GPC6 (rs7320969 and rs4773724) were correlated with a decreased risk of AIONFH. This result will need further experiments to verify.

摘要

背景

股骨头坏死(ONFH)是一种由过度饮酒、遗传因素等引起的常见关节疾病。本研究旨在探讨中国汉族人群中[具体基因名称]基因变异与酒精性股骨头坏死(AIONFH)风险之间的关联。

方法

本研究采用Agena MassARRAY检测法对402名男性的9个选定单核苷酸多态性(SNP)进行基因分型。通过计算比值比(OR)和95%置信区间(CI),我们评估了基因多态性对AIONFH发生的影响。还使用假阳性报告概率(FPRP)分析和效能来评估显著结果。此外,利用多因素降维(MDR)软件预测选定SNP与AIONFH风险之间的关联。

结果

总体分析表明,[具体基因名称]rs10903966和[具体基因名称]rs7320969与AIONFH风险相关。[具体基因名称]rs4773724与AIONFH风险降低相关,而在42岁以下人群中,携带[具体基因名称]rs9523981 CC基因型的个体比携带其他基因型的个体患AIONFH的风险更高。基于坏死部位的分层分析,rs7320969与AIONFH风险降低相关,而rs10903966和rs9523981与AIONFH风险增加相关。此外,在不同临床阶段的患者中,观察到rs1008993和rs7320969与AIONFH风险有关。同时,在rs1008993、rs9523981、rs7320969和rs59624626不同基因型的受试者中,总胆固醇(TC)、甘油三酯(TG)、血小板、载脂蛋白A1(ApoA1)和载脂蛋白B(ApoB)水平存在显著差异。MDR结果显示,rs11251720和rs7320969在预测AIONFH风险方面可能起协同作用。

结论

rs10903966和[具体基因名称]rs9523981与AIONFH风险增加相关,而GPC6(rs7320969和rs4773724)与AIONFH风险降低相关。这一结果需要进一步实验验证。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/dd3660159893/PGPM-15-797-g0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/ca5dcb53a306/PGPM-15-797-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/35e0f2a46a08/PGPM-15-797-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/fc9ce74cf883/PGPM-15-797-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/6107d9920a56/PGPM-15-797-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/dd104e08e795/PGPM-15-797-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/dd3660159893/PGPM-15-797-g0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/ca5dcb53a306/PGPM-15-797-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/35e0f2a46a08/PGPM-15-797-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/fc9ce74cf883/PGPM-15-797-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/6107d9920a56/PGPM-15-797-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/dd104e08e795/PGPM-15-797-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2815/9469939/dd3660159893/PGPM-15-797-g0006.jpg

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