含易感基因的HLA单倍型与终末期肾功能衰竭易感性的关系

Relationship between susceptibility of HLA haplotype with susceptible gene and end-stage renal failure

目的探讨含易感基因的人类白细胞抗原(HLA)单倍型与终末期肾功能衰竭(ESRD)易感性的关系。方法应用人口遗传学软件Arlequin统计分析ESRD组和对照组HLA两个位点单倍型频率,通过χ2检验筛选两组具有统计学差异的单倍型,计算其优势比(OR)。结果 ESRD组和对照组均表达出易感基因HLA-B*75-A位点单倍型5条、易感基因HLA-DR*04-B位点单倍型22条、易感基因HLA-DR*17-B位点单倍型16条;两组单倍型频率相比,ESRD组中频率显著升高(Pc<0.05)的单倍型是B*75-DR*04、B*13-DR*04、B*46-DR*04、B*58-DR*04。结论单倍型B*75-DR*04由独立易感基因B75、DR4组成,具有集合易感意义,可能为与ESRD易感关联的HLA单倍型。

Objective To investigate the relationship between susceptibility of HLA haplotypes with the susceptible gene and end-stage renal failure disease（ESRD）.Methods The population genetics software Arlequin was used to calculate HLA two loci haplotype frequencies.χ2 test was applied to filter HLA haplotype of which the frequencies were with statistical difference in two groups.Then the odds ratio（odds ratio,OR） of these haplotypes were calculated.Results ESRD group and control group expressed 5 A-B two loci haplotypes containing susceptible gene HLA-B75,22 B-DR loci haplotypes containing susceptible genes HLA-DR ＊ 04,16 B-DR loci haplotypes including susceptible gene HLA-DR＊17.Compared the two groups,the frequencies of haplotypes that were B75-DR4,B13-DR4,B46-DR4,B58-DR4 were significantly higher in ESRD patient group.Conclusion The haplotype B75-DR4 which is composed of the susceptible gene B75,DR4 may be the susceptible haplotype to ESRD.