NOD2基因单核苷酸多态性与彝族麻风病相关性研究

Correlation analysis between NOD2 gene single nucleotide polymorphisms and leprosy in Chinese Yi population

目的探讨NOD2基因单核苷酸多态性（SNP）位点与中国彝族人群麻风病的关系。方法单碱基延伸法（SNaPshot）检测300例彝族麻风病患者和300例彝族健康对照NOD2基因的4个SNP位点：rs9302752、rs7194886、rs8057341、rs3135499的基因型。结果4个位点的基因型分布均符合Hardy—Weinberg平衡（P〉0．05），rs3135499位点的基因型频率和等位基因频率在麻风病组和对照组问的差异有统计学意义（均P〈0．叭）。rs9302752、rs7194886、rs8057341位点的基因型频率和等位基因频率在麻风病组和对照组间的差异无统计学意义（均P〉0．05）。结论NOD2基因单核甘酸多态性位点rs3135499与中国彝族人群麻风病发病相关。

Objective To assess the association between INUI）A gene stogie nuceouue polymorpnlsms （SNPs） and leprosy in Chinese Yi population. Methods Whole blood samples were obtained from 300 patients with leprosy and 300 healthy human controls of Yi nationality in Sichuan province. Genomic DNA was extracted, and a SNaPshot assay was performed to determine the genotypes of four single nucleotide polymorphisms （SNPs） of the NOD2 gene, including rs9302752, rs7194886, rs8057341 and rs3135499. Chi-square test was conducted to compare allele frequency, and Hardy-Weinberg equilibrium was tested. Results The genotype distribution of all the four SNPs was consistent with Hardy-Weinberg equilibrium （all P 〉 0.05）. Significant differences were observed between the patients with leprosy and healthy controls in both genotype distribution and allele frequency of the SNP rs3135499 （both P 〈 0.01）, but not in those of the other three SNPs （all P 〉 0.05）. Conclusion The SNP rs3135499 of the NOD2 gene may be associated with the development of leprosy in Chinese Yi population.