【摘要】 目的探讨12q13.2区域单核苷酸多态（SNP）rs10876864位点与白癜风临床表型（发病年龄、家族史、临床类型、伴发疾病）的相关性。方法选取6 857例患者和12 025例正常对照的（本课题组前期白癜风GWAS数据）rs10876864位点基因分型数据,χ²检验用于比较各组间基因型和等位基因频率的分布。结果 12q13.2区域rs10876864位点基因型分布在早发型（发病年龄≤20岁）患者与晚发型（发病年龄>20岁）患者(P_基因型=5.10×10^-5),不伴发免疫性疾病患者与伴发免疫性疾病患者(P_基因型=1.38×10（-3）),局限型白癜风患者、寻常型白癜风患者、泛发型白癜风患者及肢端型白癜风患者(P_基因型=5.00×10^-3)之间差异均具有统计学意义。结论 12q13.2区域rs10876864位点基因型分布影响白癜风发病年龄、临床类型及伴发免疫性疾病。更多还原

【Abstract】 Objective To investigate the associations between rs10876864 in 12q13. 2 and phenotype including age at onset,familial history,clinical types,concomitant disease of vitiligo in the Chinese Han population. Methods The genotyping data of rs10876864 of 6 857 vitiligo patients and 12 025 normal control selected from the early vitiligo GWAS data. χ²test used for the comparison between groups of genotype and allele frequency distribution. Results The frequency of genotypic distribution among SNP rs10876864 in patients with early-onset（ ≤20） vitiligo patients and late-onset（ > 20） vitiligo patients( P_genotype= 5. 10 × 10^{- 5}),generalized vitiligo patients with and without immune-related diseases( P_genotype= 1. 38 × 10^{- 3}),clinical types of vitiligo including focal vitiligo,vulgaris vitiligo,universal vitiligo,acrofacial vitiligo( P_genotype= 5. 00 ×10^{- 3}) all have a statistical significance. Conclusion The frequency of genotypic distribution of SNP rs10876864 have statistical significance with age at onset,familial history,clinical types,concomitant disease of vitiligo in the Chinese Han population.更多还原