IL2RA-RBM17基因区域单核苷酸多态性与中国蒙古族白癜风关联研究

目的 探讨IL2RA-RBM17基因区域单核苷酸多态性与中国蒙古族白癜风的遗传关联性.方法 收集白癜风患者425例,健康对照503例.用AxyPrep(AP-MX-BL-GDNA-25)基因组DNA抽提试剂盒抽提基因组DNA.选择位于IL2RA-RBM17基因区域的9个单核苷酸多态性(rs706779、rs3134883、rs7090530、rs12251307、rs4750005、rs3920615、rs4747887、rs4750012、rs7099083),用连接酶链反应进行基因分型.用PLINK1.07及SPSS11.0进行统计分析,x2检验比较白癜风组及健康对照组等位基因频率及基因型频率.对5个差异有统计学意义的SNP间进行连锁不平衡检验,计算两两间的r2和D'值.用5个具有相关性的SNP构建单倍型,分析每个单倍型频率在白癜风组和健康对照组中的分布.结果 5个SNP (rs4750005、rs3920615、rs4747887、rs4750012、rs7099083)的等位基因频率与健康对照组差异有统计学意义(P＜0.05).5个SNP在显性遗传模式下,白癜风组中的基因型频率均显著低于健康对照组(P＜ 0.005 6).5个差异有统计学意义的SNP间存在中等至强的连锁不平衡(D'=0.424 ～1,r2=0.137 ～ 0.985).用5个具有相关性的SNP构建单倍型,分析每个单倍型频率的分布,发现1个单倍型(H2:CGCTA)在白癜风组频率明显低于健康对照组,并达到Bonferroni校正水平(P=0.001 6,OR=0.674).结论 IL2RA-RBM17区域基因多态性与蒙古族白癜风具有相关性.

Association of single nucleotide polymorphisms in the IL2RA-RBM17 region with vitiligo in the Chinese Mongolian population

Objective To investigate the association between single nucleotide polymorphisms (SNPs) in the IL2RA-RBM17 region and vitiligo in the Chinese Mongolian population.Methods Five milliliters of venous blood samples were collected from 425 patients with vitiligo (patient group) and 503 healthy human controls (control group) of Mongolian nationality after informed consent,and genomic DNA was extracted with the AxyPrep DNA extraction kit (AP-MX-BL-GDNA-25).Nine SNPs were selected across the IL2RA-RBM17 region,including rs706779,rs3134883,rs7090530,rs12251307,rs4750005,rs3920615,rs4747887,rs4750012 and rs7099083.Ligase detection reaction (LDR) was performed for SNP genotyping.With the PLINK 1.07 and SPSS 11.0 packages,statistical analysis was carried out by the chi-square test for comparisons of allele and genotype frequencies between the patient group and control group.Linkage disequilibrium analysis was performed for 5 SNPs by calculating the r2 and D' values.Haplotype analysis of 5 related SNPs was conducted to investigate differences in haplotype frequencies between the patient group and control group.Results There were significant differences in allele frequencies of 5 SNPs,including rs4750005,rs3920615,rs4747887,rs4750012 and rs7099083,between the patient group and control group (all P ＜ 0.05).Under a dominant mode of inheritance,a significant decrease was observed in the frequencies of GG/GC genotypes of rs3920615,CT/CC genotypes of rs4747887,CT/CC genotypes of rs4750005,TC/TT genotypes of rs4750012 and AG/AA genotypes of rs7099083 in the patient group compared with the control group (all P ＜ 0.005 6).Moderate to strong linkage disequilibrium was observed between the 5 SNPs (D' =0.424-1,r2=0.137-0.985).Haplotype analysis showed that the frequency of a haplotype (H2:CGCTA) was significantly lower in the patient group than in the control group,and the difference reached statistical significance after Bonferroni adjustment (P=0.001 6,OR =0.674).Conclusion SNPs in the IL2RA-RBM17 region are associated with vitiligo in the Chinese Mongolian population.