HOXA1基因与先天性小耳畸形相关性研究

Association study between HOXA1 gene and congenital microtia

目的:研究同源框A1(HOXA1)基因与先天性小耳畸形之间是否存在关联,为小耳畸形的候选基因研究提供线索。方法:在HapMap数据库中选出HOXA1基因的标签SNP rs17449024,利用飞行时间质谱在1152例非综合征型小耳畸形(病例组)及1152例相匹配的健康对照中对该SNP位点进行基因分型,统计检验HOXA1与小耳畸形之间相关性。结果:Rs17449024的等位基因频率及基因型分布在病例组和对照组中不存在统计学差异(P=0.279、0.186)。在显性和隐性模型下也未观察到差异。结论:在本研究人群中,HOXA1基因与非综合征型小耳畸形之间不存在关联。还需利用多种方法探究该基因在小耳畸形发生中的作用。

Objective：To explore whether HOXA1 gene associated with congenital microtia and to provide clues for candidate gene study of microtia.Methods：One tag SNP（rs17449024）of HOXA1 was selected from Hapmap database,and genotyping were detected by using Time of Flight Mass Spectrometry（TOF MS）in 1152 nonsyndromic microtia patients and 1152 healthy controls.The association between HOXA1 and microtia was analyzed by chi-square test.Results：There was no significant difference in allele frequency and genotypic distribution of rs17449024 between patients in observation group and control group（P value was 0.186 and 0.276,respectively）.Significant differences were not observed in both recessive and dominant modes.Conclusion：The results showed that HOXA1 gene is not associated with nonsyndromic microtia.So other various methods were further used to explore the role of HOXA1 gene in nonsyndromic microtia patients.