CCDC122基因单核苷酸多态性与彝族麻风相关性研究

Association study on CCDC122 gene variants and leprosy in Yi minority

目的:确定CCDC122基因单核苷酸多态性(SNP)位点与中国彝族人群麻风的关联。方法:采用单碱基延伸法(SNaP shot)检测300例彝族麻风患者和300名彝族正常健康者CCDC122基因的两个SNP位点:rs3088362和rs9533634的基因型。结果:rs3088362和rs9533634这两个位点的基因型分布均符合Hardy-Weinberg平衡(P>0.05),并且其等位基因频率在麻风组和对照组间的差异具有统计学意义(P<0.05)。结论:CCDC122基因单核苷酸多态性位点rs3088362和rs9533634与中国彝族人群麻风相关。

Objective： To determine the relationship between the single nucleotide polymorphisms （SNPs） of CCDC 122 gene and leprosy in Yi minority, China. Methods： The SNPs of CCDC122 gene （rs3088362,rs9533634） in 300 patients with leprosy and 300 ethnic matched healthy controls were genotyped by SNaP shot method. Results： The genotype frequencies of the 2 SNPs were in Hardy - Weinberg equilibrium （HWE） （ P 〉 0.05）. The allele fre- quencies of rs3088362 and rs9533634 in the leprosy patients were significantly different from those of the healthy con- trol group （ P 〈 0.05）. Conclusion： rs3088362 and rs9533634 of CCDC122 gene are associated with leprosy in Yi Chinese population.