亚甲基氢叶酸还原酶多态性与全聋型突发性聋患者高压氧和药物治疗效果的关系

Relationship between MTHFR polymorphism and the effect of hyperbaric oxygenation combined with drug therapy in the patients with profound sudden deafness

目的通过了解亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与全聋型突发性聋(SD)患者疗效的关系,探讨该基因突变对SD疗效的作用,为研究SD的治疗提供参考数据.方法99例全聋型SD患者取静脉血并提取DNA,以qPCR法对MTHFR基因进行单核苷酸多态性(SNP)分型.对患者行高压氧和药物治疗,观察疗效并比较不同基因型与治疗效果的关系.结果MTHFR基因基因型在本研究人群中的突变类型及频率为:C/C 17.17%,C/T 51.51%,T/T 31.32%;全聋型SD患者高压氧配合药物治疗有效率为75.76%,C/C与C/T+T/T基因型在治疗有效组和无效组之间分布的差异无统计学意义(P>0.05).结论未发现MTHFR基因多态性与全聋型SD患者接受高压氧配合药物治疗疗效有关.

Objective To explore the effect of gene mutation on sudden deafness through investigation on the relationship between MTHFR C677T polymorphism and the effect on such patients,so as to provide solid evidence for the treatment of sudden deafness.Methods Samples of venous blood in 99 patients with profound sudden deafness were collected and DNA was extracted from them.Real-time PCR was used for SNP genotyping of MTHFR gene.The patients underwent HBO and drug therapy and therapeutic effects were observed,then,the relationship between different genotypes and therapeutic effects were compared.Results The mutation types and frequencies of MTHFR genotype in the study population were:C/C 17.17%,C/T 51.51% and T/T 31.32%.The effective rate in the patients with profound sudden deafness treated with HBO and drug therapy was 75.76%,and there was no statistical significance in the distribution of C/C and C/T+T/T genotypes,when comparisons were made between the effective and non-effective groups(P>0.05).Conclusion Study results revealed that MTHFR gene polymorphism was not associated with the efficacy of HBO combined with drug therapy in the patients with profound sudden deafness.