新疆维吾尔族ABCG8和NPC1L1基因多态性与胆囊结石病的关系

目的:研究新疆维吾尔族ATP结合盒G8(ABCG8)基因和尼曼-匹克C1样1蛋白(NPC1L1)基因单核苷酸多态性与胆囊结石病的关系。方法:采集43例新疆维吾尔族胆囊结石病人和96例无胆结石对照病人的外周静脉血,提取基因组DNA。用实时定量PCR的等位基因分型法确定ABCG8基因T400K、Y54C、D19H和NPC1L1基因-762 TC、1679 CG的基因型。结果:在所有病人中,NPC1L1基因1679 G在胆石组与对照组中的分布无统计学差异(32.6%比26.6%,P=0.306);但在女性胆石组中,1679 G频率明显高于对照组(36.7%比19.4%,P0.05)。NPC1L1基因-762 TC位点以及ABCG8基因3个位点在两组间的分布无差异。结论:携带NPC1L1基因1679 G等位基因可能与新疆维吾尔族女性胆石病发病存在相关性。

Relation of single nucleotide polymorphisms of ABCG8 and NPC1L1 genes with gallstone disease in XinjiangUygur population

Objective To investigate the relation of single nucleotide polymorphism of the ATP binding cassette （ABC） G8 and the Niemann-Pick Cl-like 1 （NPC1L1） gene with gallstone disease in Xinjiang Uygur population. Methods Forty-three patients with gallstone disease and 96 patients without gallstone as controls were studied. The T40OK, Y54C and D19H of ABCG8 gene and the -762 T〉C and 1679 C〉G of NPC1L1 gene were genotyped by real-time PCR based on allelic discrimination method. Results In the overall patients, no difference was found for the distribution of 1679 G allele between the gallstone patients and the controls （32.6% vs 26.6%, P=0.306）. However, the frequency of 1679 G was significantly higher in female gallstone patients than in the female gallstone-free controls （36.7% vs 19.4%, P〈0.05）. No difference was found for the distribution of alleles of the other polymorphisms studied between the gallstone patients and the gallstone-free controls. Conclusions Our study showed that the 1679 G allele of NPCIL1 gene may be related with gallstone disease in the female Uygur population.