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中国汉族人群中载脂蛋白E(ApoE)基因多态性与类固醇诱导的股骨头坏死之间的关系。

The relationship between genetic polymorphisms in apolipoprotein E (ApoE) gene and osteonecrosis of the femoral head induced by steroid in Chinese Han population.

作者信息

Yuan Lin, Li Wei, Wang Xianquan, Yang Guang, Yu Haiyang, Sun Shui

机构信息

Department of Joint Surgery, Shandong Provincial Hospital Affiliated to Shandong University, 324# Jingwu Rd., Jinan, 250021, China.

出版信息

Genes Genomics. 2018 Feb;40(2):225-231. doi: 10.1007/s13258-017-0625-5. Epub 2017 Nov 1.

Abstract

Previous studies suggested that apolipoprotein E (ApoE) genetic polymorphisms (SNPs) may result in abnormal lipid metabolism. Therefore, genetic polymorphisms in ApoE may be associated with the occurrence of osteonecrosis of the femoral head (ONFH). A case control study was designed to include 580 patients with steroid-induced ONFH and 560 age- and sex-matched non steroid-induced ONFH control subjects to analyze the association between ApoE polymorphisms and susceptibility of steroid-induced ONFH. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was utilized to differentiate two genotypes SNPs (rs7412 C/T and rs429358 T/C) in ApoE gene. Both rs7412 C/T and rs429358 T/C were found to be associated with the risk of steroid-induced ONFH. However, no significant association was observed between the haplotypes T-T, T-C and C-C in ONFH. Furthermore, T allele of rs7412 and C allele of rs429358 carriers were associated with higher levels of TG in steroid-induced ONFH patients (P < 0.05). The study suggested that ApoE genetic polymorphisms conferred susceptibility to steroid-induced ONFH in Chinese Han population. However, the results need further investigation with large sample size and various populations.

摘要

先前的研究表明,载脂蛋白E(ApoE)基因多态性(单核苷酸多态性,SNPs)可能导致脂质代谢异常。因此,ApoE基因多态性可能与股骨头坏死(ONFH)的发生有关。本病例对照研究纳入了580例类固醇诱导的ONFH患者和560例年龄及性别匹配的非类固醇诱导的ONFH对照受试者,以分析ApoE基因多态性与类固醇诱导的ONFH易感性之间的关联。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法区分ApoE基因中的两种基因型SNPs(rs7412 C/T和rs429358 T/C)。发现rs7412 C/T和rs429358 T/C均与类固醇诱导的ONFH风险相关。然而,在ONFH中未观察到单倍型T-T、T-C和C-C之间存在显著关联。此外,rs7412的T等位基因和rs429358的C等位基因携带者在类固醇诱导的ONFH患者中与较高的甘油三酯水平相关(P < 0.05)。该研究表明,ApoE基因多态性使中国汉族人群易患类固醇诱导的ONFH。然而,结果需要通过大样本量和不同人群进一步研究。

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