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中国湖南慢性丙型肝炎病毒感染患者胆盐输出泵基因单核苷酸多态性rs2287622的初步调查

A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China.

作者信息

Lei Jian-Hua, Yang Xu, Xiao Xin-Qiang, Chen Zi, Peng Feng

机构信息

Department of Infectious Diseases, the Second Xiangya Hospital, Central South University, No.139 Middle Renmin Road, Changsha, Hunan, 410011, People's Republic of China.

出版信息

BMC Gastroenterol. 2017 Mar 14;17(1):42. doi: 10.1186/s12876-017-0594-9.

Abstract

BACKGROUND

European researchers have underscored associations between single nucleotide polymorphism (SNP) rs2287622 of the hepatobiliary bile salt export pump (BSEP) gene and the risk of hepatitis C virus (HCV) infection. The distributions of SNP rs2287622 are racially specific. This study was aimed to preliminarily investigate the distribution of BSEP gene SNP rs2287622 in the Han patients with chronic HCV-infection (CHC) in Hunan, China.

METHODS

BSEP gene SNP rs2287622 of 165 CHC patients, 99 patients with chronic hepatitis B virus infection (CHB) and 99 healthy individuals were analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis and nucleotide sequencing.

RESULTS

The overall frequencies of the C allele of BESP gene SNP rs2287622 in the CHC patients, CHB patients and healthy individuals were 74.2, 72.7 and 74.2%, respectively (P > 0.05). The overall odds ratios (ORs) aiming at predicting CHC risk by comparing the ratios of the frequency distribution of alleles or genotypes in the CHC group with those in the non-CHC group had no statistical significance (P > 0.05). However, the CHC ORs of CC vs TT, TC vs TT and CC + CT vs TT among the individuals aged over 40 years were 2.680, 3.122 and 2.824 respectively (P < 0.05), and the higher risk did not relate to gender, HCV genotypes and presence of HCV-related liver cirrhosis.

CONCLUSIONS

Among the Han individuals aged over 40 years in Hunan, China, genotype CC or CT of BSEP gene SNP rs2287622 may correlate with higher risk of CHC in comparison with genotype TT. Further study with a larger cohort is essential.

摘要

背景

欧洲研究人员强调了肝胆胆汁盐输出泵(BSEP)基因的单核苷酸多态性(SNP)rs2287622与丙型肝炎病毒(HCV)感染风险之间的关联。SNP rs2287622的分布具有种族特异性。本研究旨在初步调查中国湖南汉族慢性HCV感染(CHC)患者中BSEP基因SNP rs2287622的分布情况。

方法

采用聚合酶链反应-限制性片段长度多态性分析和核苷酸测序,对165例CHC患者、99例慢性乙型肝炎病毒感染(CHB)患者和99例健康个体的BSEP基因SNP rs2287622进行分析。

结果

CHC患者、CHB患者和健康个体中,BESP基因SNP rs2287622的C等位基因总体频率分别为74.2%、72.7%和74.2%(P>0.05)。通过比较CHC组与非CHC组等位基因或基因型频率分布的比值来预测CHC风险的总体优势比(OR)无统计学意义(P>0.05)。然而,40岁以上个体中CC与TT、TC与TT以及CC+CT与TT的CHC OR分别为2.680、3.122和2.824(P<0.05),且较高风险与性别、HCV基因型及HCV相关肝硬化的存在无关。

结论

在中国湖南40岁以上的汉族个体中,与基因型TT相比,BSEP基因SNP rs2287622的基因型CC或CT可能与更高的CHC风险相关。有必要进行更大样本队列的进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c478/5351046/0e859e5ad76f/12876_2017_594_Fig1_HTML.jpg

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