Yin Ji-Min, Liu Zhao, Zhao Shi-Chang, Guo Yan-Jie, Liu Zhong-Tang
Department of Orthopedic Surgery, Shanghai Sixth People's Hospital, Shanghai Jiaotong University, No,600 Yishan Road, Shanghai 200233, China.
Lipids Health Dis. 2014 Sep 23;13:149. doi: 10.1186/1476-511X-13-149.
Previous studies suggested that Apolipoprotein AI (ApoAI) and apolipoprotein B (ApoB) gene polymorphisms may result in lipid metabolism disorders. Genetic polymorphisms in these genes may be associated with the occurrence of osteonecrosis.
We designed a case-control study including 429 patients of osteonecrosis and 368 age- and sex-matched control subjects. Polymerase chain reaction was used to amplify the DNA fragments in promoter -75 G > A of ApoAI gene and EcoR I, Xba I and 3'-VNTR of ApoB gene in osteonecrosis patients and healthy controls. We utilized polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to genotype these four single nucleotide polymorphisms (SNPs).
For -75 G > A polymorphism of ApoAI, AA genotype frequency (0.501) was significantly higher in patients with osteonecrosis than that in control (0.462) subjects (P <0.001), GA genotype frequency (0.170) was significantly lower than that in the control (0.310) group (P <0.0001). In osteonecrosis patients, the odds ratio (OR) of A allele was 3.932 (95% CI: 3.0847 ~ 5.0123), which suggested that subjects carrying A allele of promoter region -75 G > A of ApoAI gene had higher susceptibility to osteonecrosis than G allele carriers. The genotype and allele frequency distributions showed no significant difference in EcoR I, Xba Iand 3'-VNTR loci of ApoB gene between the osteonecrosis group and control group.
Our study suggested that ApoAI gene -75G > A polymorphism may be associated with susceptibility to osteonecrosis in Chinese population. However, our results need further investigation with large sample size and various populations.
先前的研究表明,载脂蛋白AI(ApoAI)和载脂蛋白B(ApoB)基因多态性可能导致脂质代谢紊乱。这些基因的遗传多态性可能与骨坏死的发生有关。
我们设计了一项病例对照研究,纳入429例骨坏死患者和368例年龄及性别匹配的对照受试者。采用聚合酶链反应扩增骨坏死患者和健康对照者ApoAI基因启动子-75 G>A以及ApoB基因EcoR I、Xba I和3'-VNTR的DNA片段。我们利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对这四个单核苷酸多态性(SNP)进行基因分型。
对于ApoAI的-75 G>A多态性,骨坏死患者的AA基因型频率(0.501)显著高于对照组(0.462)(P<0.001),GA基因型频率(0.170)显著低于对照组(0.310)(P<0.0001)。在骨坏死患者中,A等位基因的优势比(OR)为3.932(95%可信区间:3.0847~5.0123),这表明携带ApoAI基因启动子区域-75 G>A的A等位基因的受试者比G等位基因携带者患骨坏死的易感性更高。骨坏死组与对照组在ApoB基因的EcoR I、Xba I和3'-VNTR位点的基因型和等位基因频率分布无显著差异。
我们的研究表明,ApoAI基因-75G>A多态性可能与中国人群骨坏死易感性相关。然而,我们的结果需要在大样本量和不同人群中进一步研究。