Yuan Lin, Li Wei, Wang Xianquan, Yang Guang, Yu Haiyang, Sun Shui
Department of Joint Surgery, Shandong Provincial Hospital Affiliated to Shandong University, 324# Jingwu Rd., Jinan, 250021, China.
Genes Genomics. 2018 Feb;40(2):225-231. doi: 10.1007/s13258-017-0625-5. Epub 2017 Nov 1.
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.
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。