Abstract: XIONG Jun-hao, MAO Chong, SHA Xiao-wei, JIN Zheng, WANG Hao, LIU Yang-ying, NING Yong. Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences and Sichuan Provincial People′s Hospital, Chengdu 610072, China Corresponding author: NING Yong, Email: maoc11@sohu.com 【Abstract】 Objective To assess the association between NOD2 gene single nucleotide polymorphisms （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. 【Key words】 Leprosy; Yi nationality; Polymorphism, single nucleotide; Genes, NOD2

Key words: lepriasis, NOD2, Yi Chinese