目的探讨谷胱甘肽S-转移酶(glutathione S-transferase,GST)GSTT1和GSTM1基因多态性是否与老年性耳聋遗传易感性相关。方法在解放军总医院耳鼻咽喉科研究所聋病分子诊断中心样本库中选取本研究的研究对象,提取基因组DNA;利用多重PCR(Polymerase chain reaction,PCR)的方法同时扩增所有研究对象GSTT/GSTM基因编码区并进行GSTM1和GSTT1基因多态性的分型;通过病例-对照关联性分析方法进行统计学分析,明确GSTT1和GSTM1的多态性和老年性耳聋遗传易感性是否相关。结果本研究共选取了224名研究对象,包括110例老年性耳聋病例(平均阈值PTA=51±11dB)及114例相同年龄构成的对照组(PTA=18±4dB);所有研究对象的年龄均在60至80岁之间,病例组(男77人,女33人)的平均年龄为72.93±5.080岁,对照组(男76人,女38人)的平均年龄73.10±5.787岁。通过GSTM1和GSTT1基因多态性分型及统计学分析结果显示:GSTM1、GSTT1基因型阳性率及GSTT1+/GSTM1+、GSTT1+/GSTM1-、GSTT1-/GSTT1+和GSTT1-/GSTM1-不同基因多态性频率在病例-对照组间差异均无显著的统计学意义(P〉0.05)。结论中国人群中GSTT1和GSTM1基因的多态性与老年性耳聋之间并不存在较强的关联性。
Objective To determine the relationship between GSTM1 and GSTT1 genetic polymorphisms and here-ditary susceptibility to age-related hearing loss. Methods Specimens in this study were selected from the database at the Deafness Molecular Diagnosis Center, Institute of Otorhinolaryngology, Chinese PLA General Hospital for genomic DNA extraction. The genetic polymorphisms of GSTM1 and GSTT1 were detected by multiplex polymerase chain reaction. The results were compared to the control and χ2 test was used to determine the frequency and association of genotype of GSTM1 and GSTT1. Results This study included 224 specimens, including those from cases of age-related hearing loss (n=110, PTA=51±11 dB HL) and from age-matched controls(n=114, PTA=18±4 dB HL) All subjects were between 60° to 80 years of age. The average age of the age related hearing loss group(77 males and 33 females) was 72.93 ± 5.08 years, and that of the control group (76 males and 38 females) was 73.10 ± 5.787 years. Genotyping and statistical analysis revealed no difference between patients with age related hearing loss and the controls regarding GSTM1, GSTT1 genotype positive rate and frequencies of GSTT1+/GSTM1+, GSTT1+/GSTM1-, GSTT1-/GSTT1+ and GSTT1-/GSTM1- genotypes (P 0.05). Conclusion We are unable to detect a strong association between GSTM1、 GSTT1 gene and age related hearing loss in this Chinese population.