平和质酒精性股骨头坏死患者CYP4501A2*1C基因多态性研究

Gene Polymorphism of CYP4501A2*1C in Patients with Alcoholic Avascular Necrosis of the Femoral Head of Yin-yang Balanced Physique

目的:研究平和质酒精性股骨头坏死患者CYP4501A2*1C的基因多态性,探讨平和质及CYP4501A2*1C与酒精性股骨头坏死发病的相关性。方法:对酒精性股骨头坏死的患者进行中医体质问卷调查,确定高发体质(平和质)进行CYP4501A2*1C基因多态性检测并与非股骨头坏死正常人群(对照组)作对照。结果:平和质酒精性股骨头坏死(平和质组)和非股骨头坏死正常人群(对照组)中共检测出多态性位点5处,平和质组在135位点检出A碱基占10.87%,G碱基占89.13%;149位点插入一个C碱基;397位点检出T碱基占10.87%,G碱基占89.13%;401位点检出T碱基占79.35%,G碱基占20.65%;494位点检出杂合子GA占1.09%,纯合子GG碱基占1.09%;杂合子CG占97.82%;对照组在135位点检出A碱基占12.5%,G碱基占87.5%;149位点无碱基插入;397位点检出T碱基占7.5%,G碱基占92.5%;401位点检出T碱基占52.5%,G碱基占47.5%;494位点检出杂合子CG占100%.平和质组和对照组中CYP4501A2*1C401位点碱基分布有差异,且差异有统计学意义(P<0.05),平和质组CYP4501A2*1C401位点T碱基出现频率明显高于对照组(P<0.05),G碱基出现频率明显低于对照组(P<0.05)。结论:平和质酒精性股骨头坏死患者与非股骨头坏死正常人群在CYP4501A2*1C基因多态性位点碱基分布有差异,CYP4501A2*1C401位点T/G碱基的置换可能更易于形成酒精性股骨头坏死,在中医体质类型中CYP4501A2*1C401位点T/G碱基的置换可能更易于形成平和质酒精性股骨头坏死。

Objective：To explore the gene polymorphism of CYP4501A2＊1Cin patients with alcoholic avascular necrosis of the femoral head of yin-yang balanced physique,and to investigate the correlation between CYP4501A2＊1C,yin-yang balanced physique and alcoholic avascular necrosis of the femoral head.Methods：TCM constitution questionnaire survey was conducted among patients with alcoholic avascular necrosis of the femoral head.Those who belonged to yin-yang balanced physique were enrolled in the study for CYP4501A2＊1Cgene polymorphism detection.Subjects without avascular necrosis of the femoral head were taken as control group.The analysis was performed by SPSS17.0software.Results：Five polymorphic loci were detected in the two groups.For patients belonging to yin-yang balanced physique,A base accounted for10.87% and G base accounted for 89.13% at 135 loci.One C base was inserted at 149 loci.T base accounted for 10.87%and G base accounted for 89.13%at 397 loci.T base accounted for 79.35%and G base accounted for 20.65%at 401 loci.Heterozygous GA accounted for 1.09%,homozygous GG accounted for 1.09%,and heterozygote CG was accounted for97.82% at 494 loci.As for control group,A base accounted for 12.5%and G base for 87.5%at 135 loci.No base was inserted at 149 loci.T base accounted for 7.5% and G base for 92.5% at 397 loci.T base accounted for 52.5% and G base for 47.5% at 494 loci.Heterozygous CG accounted for 100% at 494 loci.There was significant difference in the distribution of bases at CYP4501A2＊1C401site between yin-yang balanced physique group and control group（P〈0.05）.There were remarkably higher frequencies of T base in yin-yang balanced physique group than in control group（P〈0.05）,while frequencies of G base apparently lower（P〈0.05）.Conclusion：The distribution of bases at CYP4501A2＊1C401site is different between normal population and patients of yin-yang balanced physique with alcoholic avascular necrosis of the femoral head.The substitution of T/G base at CYP4501A2＊1C401site may be more vulnerable to the formation of alcoholic avascular necrosis of the femoral head.In TCM constitution types,the substitution of T/G base at CYP4501A2＊1C401site may make it easier to form ethanol osteonecrosis of the femoral head in yin-yang balanced physique.