基因多态性与山东临沂地区激素性股骨头坏死遗传易感性的关联

背景：近年来有研究表明激素性股骨头坏死患者的发病与遗传易感因素有关。 目的：探讨临沂地区人群中候选基因单核苷酸多态性与激素性股骨头坏死的关联。 方法：纳入分析63例激素性股骨头坏死患者和71例使用激素无股骨头坏死的对照组患者的激素总剂量并测定两组ApoB基因C7623T，G12619A，CYP1A2基因G2964A共3个位点的基因多态性，分析它们的基因型与等位基因频率的分布。 结果与结论：两组激素治疗的总剂量比较差异无显著性意义，ApoB C7623T位点TT基因型和T等位基因出现的频率在激素性股骨头坏死组明显高于对照组(P < 0.05)。提示CYP1A2G2964A与ApoB C7623T的基因多态性可能与激素性股骨头坏死的遗传易感性有关。CYP1A2G2964A与ApoB C7623T的基因多态性的协同作用与激素性股骨头坏死相关联。

Relationship between gene polymorphisms and hereditary susceptibility of steroid-induced femoral head osteonecrosis in Linyi City of Shandong Province

BACKGROUND:Recent studies have shown that steroid-induced osteonecrosis of the femoral head (ONFH) is associated with hereditary susceptibility. OBJECTIVE:To investigate the relationship between single-nucleotide polymorphisms and syndrome types in steroid-induced ONFH in populations from Linyi city, China.  METHODS:The total dose of steroid, and the genetic polymorphisms of ApoB C7623T, G12619A, CYP1A2 G2964A sites were determined by polymerase chain reaction-ligase detection reaction combined with the sequencing analysis in 63 cases with ONFH by consecutive steroid therapy and 71 controlled cases without ONFH. RESULTS AND CONCLUSION:There were no significant differences in the total dose of steroid between two groups. The frequencies of ApoB C7623T TT genotype and CYP1A2 G2964A AG genotype in patients with ONFH were significantly higher than those without ONFH (P < 0.05). These experimental findings indicate that, ApoB C7623T and CYP1A2 G2964A polymorphisms may be associated to the susceptibility to steroid-induced ONFH, and the synergetic effect of these polymorphisms contributes to the onset of ONFH.