中文摘要：

目的了解固醇12α羟化酶（Sterol 12α-hydroxylase，CYP881）基因单核苷酸多态性（SNP）与中国汉族人群胆囊结石病的关系。方法采用直接测序法检测CYP881基因启动子和编码区序列，确定SNP的位置及类型。对频率〉10％的SNP，在胆囊结石病患者和对照者中进行关联研究。结果在5119bp测序长度中，共发现11个SNP，1个位于编码区，启动子区5个，3’-非翻译区5个，其中3个为新发现的SNP，而数据库中有12个SNP在本次研究没有检测到。SNPrs3732860的等位基因频率在病例一对照组之间分布差异有统计学意义，病例组A等位基因频率明显低于对照组（P=0．022），携带A等位基因者发生胆石病的危险低于携带G等位基因者（OR=1．465，95％CI1．055～2．034，P=0．023）。结论CYP881基因SNPrs3732860和中国汉族人群胆囊结石形成有关，A等位基因可能对胆囊结石病发病有保护作用。

英文摘要：

Objective To identify the single nucleotide polymorphisms of human CYPSBlgene and explore the association of some of these SNPs with gallstone disease in Chinese population. Methods The exon and part of promoter were sequenced by a fluorescent labeling automatic method to identify and characterize the SNPs in Chinese population. For SNPs with an allelic frequency of over 10% , a case-control study was performed in patients and controls. Results Eleven SNPs were found within a 5119 bp region. Among them, 1 was in coding region, 5 in promoter and 5 in 3＇-UTR. There were 3 novel SNPs and 12 SNPs in SNP database were not found. The allelic frequency of rs3732860 polymorphism showed a significant difference （ P = 0. 022 ） in the association study. The subjects with A allele had a significantly lower frequency of gallstone disease than those with G allele （ OR = 1. 465, 95 % CI 1. 055 - 2. 034, P = 0. 023 ）. Conclusion SNP rs3732860 of CYPSB1 gene is associated with gallstone disease in Chinese population. And A allele may play a protective role in the pathogenesis of gallstone.