目的：研究哈尔滨地区汉族人群老年性耳聋与GRHL2基因SNP位点的相关性，探讨GRHL2基因与老年性耳聋的遗传易感性的可能关系方法选择哈尔滨市区或郊县50岁以上449位中老年人作为研究对象，听力下降至少25分贝以上的224例为病例（老年性耳聋）组，听力下降小于25分贝的225例作为正常组。采用Sequenom MassARRAY特定SNP基因分析检测的方法，计数rs10955255，rs2127034，rs1981361多态位点的各组基因型频数和等位基因频数，应用卡方检验进行统计分析判断各组间差异。结果rs10955255与rs2127034多态位点病例组与对照组比较，基因型及等位基因分布差别均无统计学意义(P>0.05)；rs1981361多态位点病例组与对照组比较，基因型及等位基因分布差别具有统计学意义(P<0.05)。结论哈尔滨地区汉族老年性耳聋与GRHL2基因rs1981361SNP位点具有相关性，GRHL2基因可能是研究老年性耳聋遗传易感性的一个有意义的基因，本结果为进一步进行大规模多中心的相关方面研究提供了基础。%Objective To study the correlation between presbycusis among the Han ethnic group in Harbin area and sin-gle-nucleotide polymorphism (SNP) of GRHL2 and determine if there is GRHL2 genetic predisposition to presbycusis. Meth-ods Two hundred and twenty five normal hearing (audiometric thresholds at 25 dB HL or better) ethnic Han people older than 50 years (the control group) and 224 Han people older than 50 years with hearing thresholds greater than 25 dB HL (the study group) in urban or suburban areas of Harbin were included in the study , The Sequenom Mass ARRAY specific SNP gene anal-ysis method was employed to analyze genotype frequency and allele frequency in each group.χ2-test was used in statistical analysis to evaluate differences between groups. Results There was no difference in respect to the distribution of genotypes or alleles between these two groups (P> 0.05) by χ2-test. Distributions of genotypes and alleles of rs10955255 and rs2127034 SNP in both groups attained Hardy-Weinberg balance. Distributions of genotypes and alleles of rs1981361 SNP did not attain Hardy-Weinberg balance in the two groups (P<0.05 byχ2-test). Conclusion There appears to be a correlation between presby-cusis among the Han people in Harbin and the GRHL2 rs1981361 SNP. The GRHL2 gene may be a meaningful gene for re-search on genetic susceptibility to presbycusis. Our results provide the basis for future relevant large-scale multicenter studies.
展开▼
