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目的检测胆囊结石病人和正常对照个体线粒体DNA第一高变区(HVS1)单核苷酸多态性(SNPs),分析胆囊结石病的可能易感因素。方法对上海地区96个来自不同家系的胆囊结石病人和204例正常对照个体进行线粒体DNA第一高变区序列检测,将测序结果与标准序列对比,寻找存在的单核苷酸多态性,并据此进行线粒体单倍型类群划分。比较单倍群在两组之间的分布差异,估算各种单倍群人群胆囊结石病相对发病风险。结果B单倍群、B4和B4b1亚群在胆囊结石病组的出现频率明显高于对照组(P<0·05);胆囊结石病组和正常对照组B单倍群的比值比(OR)为2·005;B4亚群OR值为2·200;B4b1亚群OR值为3·9331,P均<0·05。结论线粒体DNA B4b1单倍型亚群是胆囊结石病的易感因素。
Objective To detect single nucleotide polymorphisms (SNPs) of mitochondrial DNA hypervariable region 1 (HVS1) in gallstone patients and normal controls and to analyze possible susceptibility factors of gallstone disease. Methods The first hypervariable region of mitochondrial DNA was sequenced in 96 pediatric patients with gallstone masses and 204 normal controls in Shanghai. The sequencing results were compared with the standard sequences to find out the existence of single nucleotide polymorphisms According to this mitochondrial haplotype grouping. Comparison of haplogroups distribution differences between the two groups to estimate the relative risk of gallstone disease in all haplogroups. Results The frequencies of haplogroup B, B4 and B4b1 in gallstone disease group were significantly higher than those in control group (P <0.05). The odds ratio (OR) of B haplotype in gallstone disease group and normal control group Was 2.005. The OR of B4 subgroup was 2.200. The OR of B4b1 subgroup was 3.9333, both P <0.05. Conclusion Mitochondrial DNA B4b1 haplotype subtype is a susceptible factor to gallstone disease.