痰湿质酒精性股骨头坏死CYP2C8基因 rs17110453位点多态性研究

摘要

目的：探讨酒精性股骨头坏死（AIONFH）高发中医体质类型痰湿质与CYP2C8基因多态性关系。方法选取2014年2月－2015年9月于甘肃省中医院门诊及住院部汉族非创伤性股骨头坏死（NONFH）患者152例，其中AIONFH患者50例作为病例组，同期纳入无血缘关系的健康志愿者45人作为对照组，建立所有患者及志愿者病例资料数据库。判定AIONFH患者中医体质类型，采用溶液型DNA提取试剂盒提取DNA，检测DNA浓度及纯度，采用普通PCR扩增出目的片段，凝胶电泳检测扩增的目的基因，并确认其片段长度，进行目的基因测序，结合凝胶电泳及基因测序结果进行统计分析，得出 AIONFH 痰湿质、非痰湿质患者与对照组的CYP2C8基因多态性与AIONFH发病关系。结果比较病例组与对照组的CYP2C8基因rs17110453位点多态性，2组各基因型间差异无统计学意义（χ2＝0.253，P＞0.05）；2组等位基因差异无统计学意义（χ2＝0.077，P＞0.05）；病例组CC基因型的发病风险是AA基因型的1.37倍（95%CI：0.339～5.540），两者比较差异无统计学意义（P＞0.05）。AIONFH痰湿质患者与非痰湿质、对照组的基因型及等位基因分布差异均无统计学意义（P＞0.05）。结论 CYP2C8基因rs17110453位点多态性A/C突变与痰湿质AIONFH的发病风险无明显联系，未发现CYP2C8基因rs17110453位点多态性与AIONFH明确关系。%Objective To study the relation between alcohol-induced osteonecrosis of femoral head (AIONFH) related with high morbidity TCM constitution type with CYP2C8 gene polymorphisms.Methods Totally 152 Han nationality NONFH cases from Feburary 2014 to September 2015 from outpatient and the inpatient departments in Gansu Province Hospital of TCM were collected. 50 AIONFH cases were set as medical case group; meanwhile, 45 healthy volunteers were enrolled as control group. Database for medical materials of all patients and volunteers was established. TCM distribution for AIONFH patients was determined. Solution DNA extraction kit was used to extract DNA, and detect the concentration and purity of DNA. The target gene was amplified by PCR and the target gene was amplified by gel electrophoresis. The length of the fragment was confirmed to conduct target gene sequencing. With the results of sequencing and gel electrophoresis, the relation of AIONFH with CYP2C8 gene polymorphism in AIONFH patients with phlegm-dampness syndrome and the control group.ResultsThe CYP2C8 gene loci rs17110453 gene polymorphism was not statistically significant between the two groups (χ2=0.253,P>0.05). There was no significant difference in allele between the two groups (χ2=0.077,P>0.05). The risk of disease in CC genotype was 1.37 times higher than the AA genotype (95%CI: 0.339-5.540), without statistical significance (P>0.05). There was no significant difference in genotype and allele distribution between AIONFH patients with phlegm-dampness and non-phlegm-dampness and the control group (P>0.05).Conclusion CYP2C8 gene loci rs17110453 gene polymorphism A/C mutation has no obvious relation with AIONFH risk. There is no clear relationship between CYP2C8 gene loci rs17110453 gene polymorphism with AIONFH.