中文摘要：

目的：对中国汉族人群白癜风6q27易感区域进行精细定位研究,以期发现白癜风易感基因。方法：收集2942例白癜风患者和2850名正常对照标本,对6q27易感区域内的24个标签SNP位点进行基因分型。采用Plink 1.07和SPSS19.0软件进行统计分析,同时进行条件回归分析和连锁不平衡分析。结果：（1）SNP位点rs2236313、rs9457258、rs720325、rs968334、rs3093025、rs55802221、rs1012656、rs6930998和rs1331299的等位基因频率在病例组和对照组之间具有显著差异,但是通过条件回归分析结果提示没有新的独立信号存在;（2）连锁不平衡分析结果显示rs2236313、rs9457258、rs720325、rs968334和rs30930255位点间具有中度连锁关系（D＇〉0.7,r2〉0.4）。结论：本文证实既往报道的SNP是标签SNP,根据基因型填补以后的注释结果认为白癜风6q27区域的关联基因为RNASET2基因。

英文摘要：

Objective：To perform the fine mapping study for vitiligo susceptibility region 6q27 in order to identify the susceptibility gene in Chinese Han population. Methods： Total 24 tag SNPs were genotyped in2942 patients with vitiligo and 2850 healthy controls. The PLINK 1. 07 and SPSS19. 0 software were used for statistical analysis,linkage disequilibrium and regression analysis. Results：（ 1） There were significant differences in the allele frequencies of rs2236313,rs9457258,rs720325,rs968334,rs3093025,rs55802221,rs1012656,rs6930998 and rs1331299 between the cases and controls. The regression analysis revealed that there was no independent signals in these SNPs.（ 2） The linkage disequilibrium analysis showed there was moderate linkage among rs2236313,rs9457258,rs720325,rs968334 and rs3093025（ D ＇〉 0. 7,r2〉 0. 4）.Conclusion： This study identified the previous report,in which SNP rs2236313 is the tag SNP in the vitiligo patients of Chinese Han and the RNASET2 gene is an associated gene in 6q27 region.